25
Genome Analyzer Selected Publications Genome sequence analysis Genome sequence analysis Stark, A., Lin, M., Kheradpour, P., Pedersen, J. S., Parts, L., Carlson, J. W., Crosby, M. A., Rasmussen, M. D., Roy, S., Deoras, A. N., Ruby, J. G., Brennecke, J., Harvard FlyBase curators, Berkeley Drosophila Genome Project, Hodges, E., Hinrichs, A. S., Caspi, A., Paten, B., Park, S-W., Han, M. V., Maeder, M. L., Polansky, B. J., Robson, B. E., Aerts, S., van Helden, J., Hassan, B., Gilbert, D. G., Eastman, D. A., Rice, M., Weir, M., Hahn, M. W., Park, Y.,Dewey, C. N., Pachter, L., Kent, W. J., Haussler, D., Lai, E. C., Bartel, D. P., Hannon, G. J., Kaufman, T. C., Eisen, M. B., Clark, A. G., Smith, D., Celniker, S. E., Gelbart, W. M., Kellis, M. (2007) Discovery of functional elements in 12 Drosophila genomes using evolutionary signatures. Nature. 450, 219-232. Blow, M. J., Zhang, T., Woyke, T., Spelle, C. F., Krivoshapkin, A., Yang, D., Derevianko, A., Rubin, E. (2008) Identification of the source of ancient remains through genomic sequencing. Genome Res. 18(8), 1347 - 1353. Suchland RJ, Jeffrey BM, Xia M, Bhatia A, Chu HG, Rockey DD, Stamm WE (2008) Identification of concomitant infection with Chlamydia trachomatis IncA-negative mutant and wild-type strains by genomic, transcriptional, and biological characterizations. Infect Immun. 76(12), 5438-5446. Amacher SL (2008) Emerging gene knockout technology in zebrafish: zinc-finger nucleases. Brief Funct Genomic Proteomic. 7(6), 460-464. Bennett, S. (2004) Solexa Ltd. Pharmacogenomics. 5, 433-438. Blow, N. (2007) The Personal side of Genomics. Nature. 449, 627-630. Hall, N. (2007) Advanced sequencing technologies and their wider impact in microbiology. J Exptl Biol. 209, 1518 -1525. Hutchinson III, CA (2007) DNA sequencing: bench to bedside and beyond. Nucl Acids Res. 35(18), 6227-6237. Mardis, E. R. (2006) Anticipating the 1,000 dollar genome. Genome Biol. 7, 112. Pennisi, E. (2007) DNA SEQUENCING: A New Window on How Genomes Work. Science. 316(5828), 1120-1121. Petretto, E., Liu, E. T., Aitman, T. J. (2007) A gene harvest revealing the archeology and complexity of human disease. Nat Genetics. 39, 1299-1301. Service, R. F. (2006) The Race for the $1000 Genome. Science. 311(5767), 1544-1546. Shendure, J., Mitra, R. D., Varma, C., Church, G. M. (2004) Advanced Sequencing technologies: methods and goals. Nat Genetics. 5, 335-344. Wakefield M. J. (2006) Genomics--from Neanderthals to high-throughput sequencing. Genome Biol. 7(8), 326. Ashburner, M. (2007) Drosophila Genomes by the Baker’s Dozen. Genetics. 177, 1263-1268. Birney, A. (2007) Come fly with us. Nature. 450, 184-185. Carter, D. M., Liti, G., Moses, A. M., Parts, L., James, S. A., Davey, R. P., Roberts, I. N., Blomberg, A., Warringer, J., Burt, A., Koufopanou, V., Tsai, I. J., Bergman, C. M., Bensasson, D., O’Kelly, M. J. T., van Oudenaarden, A., Barton, D. B. H., Bailes, E., Jones, M., Quail, M. A., Goodhead, I., Sims, S., Smith, F., Richard Durbin, R., Loui, E. J. (2008) Population genomics of domestic and wild yeasts. Nat Precedings. Epub, hdl:10101/npre.2008.1988.1. Margulies, E. H., Birney, E. (2008) Approaches to comparative sequence analysis: towards a functional view of vertebrate genomes. Nat Genetics. 9, 303-313. Ossowski, S., Schneeberger, K., Clark, R. M., Lanz, C., Warthmann, N., Weigel, D. (2008) Sequencing of natural strains of Arabidopsis thaliana with short reads. Genome Res. 18(12), 2024-2033. Hudson, M. E. (2008) Sequencing breakthroughs for genomic ecology and evolutionary biology. Mol Ecol Resources. 8(1), 3-17. GA Publications www.illumina.com 1 2/4/2009

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Page 1: Genome sequence analysis - bip.weizmann.ac.il fileGenome Analyzer Selected Publications Genome sequence analysis McCutcheon,J.P.,Moran,N.A.(2007)Parallelgenomicevolutionandmetabolicinterdependenceinanancient

Genome AnalyzerSelected Publications

Genome sequence analysis

Genome sequence analysis

Stark, A., Lin, M., Kheradpour, P., Pedersen, J. S., Parts, L., Carlson, J. W., Crosby, M. A., Rasmussen, M. D.,

Roy, S., Deoras, A. N., Ruby, J. G., Brennecke, J., Harvard FlyBase curators, Berkeley Drosophila Genome

Project, Hodges, E., Hinrichs, A. S., Caspi, A., Paten, B., Park, S-W., Han, M. V., Maeder, M. L., Polansky, B. J.,

Robson, B. E., Aerts, S., van Helden, J., Hassan, B., Gilbert, D. G., Eastman, D. A., Rice, M., Weir, M., Hahn, M.

W., Park, Y.,Dewey, C. N., Pachter, L., Kent, W. J., Haussler, D., Lai, E. C., Bartel, D. P., Hannon, G. J.,

Kaufman, T. C., Eisen, M. B., Clark, A. G., Smith, D., Celniker, S. E., Gelbart, W. M., Kellis, M. (2007) Discovery of

functional elements in 12 Drosophila genomes using evolutionary signatures. Nature. 450, 219-232.

Blow, M. J., Zhang, T., Woyke, T., Spelle, C. F., Krivoshapkin, A., Yang, D., Derevianko, A., Rubin, E. (2008)

Identification of the source of ancient remains through genomic sequencing. Genome Res. 18(8), 1347 - 1353.

Suchland RJ, Jeffrey BM, Xia M, Bhatia A, Chu HG, Rockey DD, Stamm WE (2008) Identification of concomitant

infection with Chlamydia trachomatis IncA-negative mutant and wild-type strains by genomic, transcriptional, and

biological characterizations. Infect Immun. 76(12), 5438-5446.

Amacher SL (2008) Emerging gene knockout technology in zebrafish: zinc-finger nucleases. Brief Funct Genomic

Proteomic. 7(6), 460-464.

Bennett, S. (2004) Solexa Ltd. Pharmacogenomics. 5, 433-438.

Blow, N. (2007) The Personal side of Genomics. Nature. 449, 627-630.

Hall, N. (2007) Advanced sequencing technologies and their wider impact in microbiology. J Exptl Biol. 209, 1518

-1525.

Hutchinson III, CA (2007) DNA sequencing: bench to bedside and beyond. Nucl Acids Res. 35(18), 6227-6237.

Mardis, E. R. (2006) Anticipating the 1,000 dollar genome. Genome Biol. 7, 112.

Pennisi, E. (2007) DNA SEQUENCING: A New Window on How Genomes Work. Science. 316(5828), 1120-1121.

Petretto, E., Liu, E. T., Aitman, T. J. (2007) A gene harvest revealing the archeology and complexity of human

disease. Nat Genetics. 39, 1299-1301.

Service, R. F. (2006) The Race for the $1000 Genome. Science. 311(5767), 1544-1546.

Shendure, J., Mitra, R. D., Varma, C., Church, G. M. (2004) Advanced Sequencing technologies: methods and

goals. Nat Genetics. 5, 335-344.

Wakefield M. J. (2006) Genomics--from Neanderthals to high-throughput sequencing. Genome Biol. 7(8), 326.

Ashburner, M. (2007) Drosophila Genomes by the Baker’s Dozen. Genetics. 177, 1263-1268.

Birney, A. (2007) Come fly with us. Nature. 450, 184-185.

Carter, D. M., Liti, G., Moses, A. M., Parts, L., James, S. A., Davey, R. P., Roberts, I. N., Blomberg, A., Warringer,

J., Burt, A., Koufopanou, V., Tsai, I. J., Bergman, C. M., Bensasson, D., O’Kelly, M. J. T., van Oudenaarden, A.,

Barton, D. B. H., Bailes, E., Jones, M., Quail, M. A., Goodhead, I., Sims, S., Smith, F., Richard Durbin, R., Loui, E.

J. (2008) Population genomics of domestic and wild yeasts. Nat Precedings. Epub, hdl:10101/npre.2008.1988.1.

Margulies, E. H., Birney, E. (2008) Approaches to comparative sequence analysis: towards a functional view of

vertebrate genomes. Nat Genetics. 9, 303-313.

Ossowski, S., Schneeberger, K., Clark, R. M., Lanz, C., Warthmann, N., Weigel, D. (2008) Sequencing of natural

strains of Arabidopsis thaliana with short reads. Genome Res. 18(12), 2024-2033.

Hudson, M. E. (2008) Sequencing breakthroughs for genomic ecology and evolutionary biology. Mol Ecol

Resources. 8(1), 3-17.

GA Publications www.illumina.com 12/4/2009

Page 2: Genome sequence analysis - bip.weizmann.ac.il fileGenome Analyzer Selected Publications Genome sequence analysis McCutcheon,J.P.,Moran,N.A.(2007)Parallelgenomicevolutionandmetabolicinterdependenceinanancient

Genome AnalyzerSelected Publications

Genome sequence analysis

McCutcheon, J. P., Moran, N. A. (2007) Parallel genomic evolution and metabolic interdependence in an ancient

symbiosis. PNAS. 104(49), 19392-19397.

Millar, C. D., Huynen, L., Subramanian, S., Mohandesan, E. Lambert, D. M. (2008) New developments in ancient

genomics. Trends Eco Evol. 23(7), 386-393.

Rancati G, Pavelka N, Fleharty B, Noll A, Trimble R, Walton K, Perera A, Staehling-Hampton K, Seidel CW, Li R

(2008) Aneuploidy underlies rapid adaptive evolution of yeast cells deprived of a conserved cytokinesis motor.

Cell. 135(5), 879-893.

Sela DA, Chapman J, Adeuya A, Kim JH, Chen F, Whitehead TR, Lapidus A, Rokhsar DS, Lebrilla CB, German

JB, Price NP, Richardson PM, Mills DA (2008) The genome sequence of Bifidobacterium longum subsp. infantis

reveals adaptations for milk utilization within the infant microbiome. PNAS. Epub, doi: 10.1073/pnas.0809584105.

Blow, N. (2008) Exploring unseen communities. Nature. 453, 687-690.

Hugenholtz P, Tyson GW (2008) Microbiology: Metagenomics. Nature. 455(7212), 481-483.

Boonham, N., Glover, R., Tomlinson, J., Mumford, R. (2008) Exploiting generic platform technologies for the

detection and identification of plant pathogens. Eur J Plant Pathol. 121, 355-363.

Fidock DA, Eastman RT, Ward SA, Meshnick SR (2008) Recent highlights in antimalarial drug resistance and

chemotherapy research. Trends Parasitol. 24(12), 537-544.

Flintoft L (2008) Microbial genomics: Sequencing gets a handle on pathogen variation. Nat Rev Genetics. 9, .

Galperin, M. Y. (2008) Social bacteria and asocial eukaryotes. Environ Microbiol. 10(2), 281-288.

Holt KE, Thomson NR, Wain J, Langridge GC, Hasan R, Bhutta ZA, Quail MA, Norbertczak H, Walker D,

Simmonds M, White B, Bason N, Mungall K, Dougan G, Parkhill J (2009) Pseudogene accumulation in the

evolutionary histories of Salmonella enterica serovars Paratyphi A and Typhi. BMC Genomics. 10(1), 36.

Holt, K. E., Parkhill, J., Mazzoni CJ, Roumagnac P, Weill FX, Goodhead I, Rance R, Baker S, Maskell DJ, Wain J,

Dolecek C, Achtman M, Dougan G. (2008) High-throughput sequencing provides insights into genome variation

and evolution in Salmonella Typhi. Nat Genetics. 40(8), 987-93.

Kistler, A. L., Gancz, A., Clubb, S., Skewes-Cox, P., Fischer, K., Sorber, K., Chiu, C. Y., Lublin, A., Mechani, S.,

Farnoushi, Y., Greninger, A., Wen, C. C., Karlene, S. B., Ganem, D., DeRisi, J. L. (2008) Recovery of divergent

avian bornaviruses from cases of proventricular dilatation disease: identification of a candidate etiologic agent.

Virol J. 5, 88.

Koenig R (2007) Tuberculosis. Few mutations divide some drug-resistant TB strains. Science. 318(5852), 901

-902.

Lamour KH, Win J, Kamoun S (2008) Oomycete genomics: new insights and future directions. FEMS Microbiol

Lett. 274(1), 1-8.

Loman, N. J., Pallen, M. J. (2008) XDR-TB genome sequencing: a glimpse of the microbiology of the future.

Future Microbiol. 3(2), 111-113.

Medini D, Serruto D, Parkhill J, Relman DA, Donati C, Moxon R, Falkow S, Rappuoli R (2008) Microbiology in the

post-genomic era. Nat Rev Microbiol. 6(6), 419-430.

Moran NA, McLaughlin HJ, Sorek R (2009) The Dynamics and Time Scale of Ongoing Genomic Erosion in

Symbiotic Bacteria. Science. 323(5912), 379-382.

Mwangi, M. M., Wu, S. W., Zhou, Y., Sieradzki, K., de Lencastre, H., Richardson, P., Bruce, D., Rubin, E., Myers,

E., Siggia, E. D., Tomasz, A. (2007) Tracking the in vivo evolution of multidrug resistance in Staphylococcus

aureus by whole-genome sequencing. PNAS. 104(22), 9451-9456.

GA Publications www.illumina.com 22/4/2009

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Genome AnalyzerSelected Publications

Genome sequence analysis

Nusbaum C, Ohsumi TK, Gomez J, Aquadro J, Victor TC, Warren RM, Hung DT, Birren BW, Lander ES, Jaffe DB

(2008) Sensitive, specific polymorphism discovery in bacteria using massively parallel sequencing. Nat Methods.

Epub, DOI:10.1038/NMETH.1286.

Snyder LA, Loman N, Pallen MJ, Penn CW (2008) Next-Generation Sequencing-the Promise and Perils of

Charting the Great Microbial Unknown. Microb Ecol. Epub, 10.1007/s00248-008-9465-9.

Srivatsan, A., Han, Y., Peng, J., Tehranchi, A. K., Gibbs, R., Wang, J. D., Chen, R. (2008) High-precision, whole-

genome sequencing of laboratory strains facilitates genetic studies. PLoS Genetics. 4(8), e1000139.

Flintoft L (2008) Human genomics: Towards an individual view. Nat Rev Genetics. 9, 893.

Fox JL (2008) What price personal genome exploration?. Nat Biotech. 26(10), 1105-1108.

Pennisi E (2008) Personal genomics. Number of sequenced human genomes doubles.. Science. 322(5903), 838.

Bau S, Schracke N, Kränzle M, Wu H, Stähler PF, Hoheisel JD, Beier M, Summerer D (2008) Targeted next-

generation sequencing by specific capture of multiple genomic loci using low-volume microfluidic DNA arrays. Anal

Bioanal Chem. 393(1), 171-175.

Hardiman, G. (2008) Ultra-high-throughput sequencing, microarray-based genomic selection and

pharmacogenomics. Future Medicine. 9(1), 5-9.

Hodges, E., Xuan, Z., Balija, V., Kramer, M., Molla, M. N., Smith, S. W., Middle, C. M., Rodesch, M. J., Albert, T.

J., Hannon, G. J., McCombie, W. R. (2007) Genome-wide in situ exon capture for selective resequencing. Nat

Genetics. 39, 1522-1527.

Olson, M. (2007) Enrichment of super-sized resequencing targets from the human genome. Nat Methods. 4, 891

-892.

Porreca, G. J., Zhang, K., Li, J. B., Xie, B., Austin, D., Vassallo, S. L., Leproust, E. M., Peck, B. J., Emig, C. J.,

Dahl, F., Gao, Y., Church, G. M., Shendure, J. (2007) Multiplex amplification of large sets of human exons. Nat

Methods. 4, 931-936.

Rodriguez JA, Guiteau JJ, Nazareth L, Reid JG, Goss JA, Gibbs RA, Gingras MC (2008) Sequencing the Full-

Length of the Phosphatase and Tensin Homolog (PTEN) Gene in Hepatocellular Carcinoma (HCC) Using the 454

GS20 and Illumina GA DNA Sequencing Platforms.. World J Surg. Epub, 10.1007/s00268-008-9852-x.

Topol, E. J., Frazer, K. A. (2007) The resequencing imperative. Nat Genetics. 39, 439-440.

Zhu, C., Gore, M.,Buckler, E. S., Yu, J. (2008) Status and Prospects of Association Mapping in Plants. Plant

Genome. 1(1), 5-20.

Aury J-M, Cruaud C, Barbe V, Rogier O, Mangenot S, Samson G, Poulain P, Anthouard V, Scarpelli C,

Artiguenave F, Wincker P (2008) High quality draft sequences for prokaryotic genomes using a mix of new

sequencing technologies. BMC Genomics. 9, 603.

Baird NA, Etter PD, Atwood TS, Currey MC, Shiver AL, Lewis ZA, Selker EU, Cresko WA, Johnson EA (2008)

Rapid SNP discovery and genetic mapping using sequenced RAD markers. PLoS One. 3(10), e3376.

Baker, S., Holt, K., Whitehead, S., Goodhead, I., Perkins, T., Stocker, B., Hardy, J., Dougan, G. (2007) A linear

plasmid truncation induces unidirectional flagellar phase change in H:z66 positive Salmonella Typhi. Molecular

Microbiology. 66(5), 1207-1218.

Bansal, A. T., Barnes, M. R. (2008) Genomics in drug discovery: the best things come to those who wait. Curr

Opin Drug Discov Devel. 11(3), 303-311.

Beals JK () Genomes of Asian and African Individuals Sequenced Using Less Costly Approach. Medscape. , .

GA Publications www.illumina.com 32/4/2009

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Genome AnalyzerSelected Publications

Genome sequence analysis

Beck J, Urnovitz HB, Riggert J, Clerici M, Schütz E (2009) Profile of the Circulating DNA in Apparently Healthy

Individuals. Clin Chem. Epub, 10.1373/clinchem.2008.113597.

Becker, N. S., Rodriguez, J. A., Gingras, M-C., Reid, J. G., Brunicardi, F. C., Goss, J. A., Gibbs, R. A. (2008)

QS445. Phosphatase and Tensin Homolog (PTEN) Mutation Detection in Hepatocellular Carcinoma Using The

454 GS and Solexa DNA Sequencing Platforms. J Surgical Res. 144(2), 444-445.

Bennett, S. T., Barnes, C., Cox, A., Davies, L., Brown, C. (2005) Toward the 1,000 dollars human genome.

Pharmacogenomics. 6, 373-382.

Bentley DR, Balasubramanian S, Swerdlow HP et al (2008) Accurate whole human genome sequencing using

reversible terminator chemistry. Nature. 456(7218), 53-59.

Bentley, D. R. (2006) Whole-genome re-sequencing. Curr Opin Genet Dev. 16, 545-552.

Campbell, P. J., Stephens, P. J., Pleasance, E. D., O’Meara, S., Li, H., Santarius, T., Stebbings, L. A., Leroy, C.,

Edkins, S., Hardy, C., Teague, J. W., Menzies, A., Goodhead, I., Turner, D. J., Clee, C. M., Quail, M. A., Cox, A.,

Brown, C., Durbin, R., Hurles, M. E., Edwards, P. A. W., Bignell, G. R., Stratton, M. R., Futreal, P. A. (2008)

Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end

sequencing. Nat Genetics. 40(6), 722-729.

Chen, W., Kalscheu, V., Tzschach, A., Menzel, C., Ullmann, R., Schulz, M., Erdogan, F., Li, N., Kijas, Z.,

Arkesteijn, G., Pajares, I. L., Goetz-Sothmann, M., Heinrich, U., Rost, I., Dufke, A., Grasshoff, U., Glaeser, B. G.,

Vingron, M., Ropers, H. H. (2008) Mapping translocation breakpoints by next-generation sequencing. Genome

Res. 18(7), 1143-1149.

Chiang DY, Getz G, Jaffe DB, O'Kelly MJ, Zhao X, Carter SL, Russ C, Nusbaum C, Meyerson M, Lander ES

(2008) High-resolution mapping of copy-number alterations with massively parallel sequencing. Nat Methods.

Epub, .

Chiu RWK, Chan KCA, Gao Y, Lau VYM, Zheng W, Leung TY, Foo CHFF, Xie B, Tsui NBY, Lun FMF, Zee BCY,

Lau TK, Cantor CR, Lo YMD (2008) Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively

parallel genomic sequencing of DNA in maternal plasma. PNAS. 105(51), 20458–20463.

Craig, D. W., Pearson, J. V., Szelinger, S., Sekar. A., Redman, M., Corneveaux, J. J., Pawlowski, T. L., Laub, T.,

Nunn, G., Stephan, D. A., Homer, N., Huentelman, M. J. (2008) Identification of genetic variants using bar-coded

multiplexed sequencing. Nat Methods. 5(10), 887-893.

Cronn, R., Liston, A., Parks, M., Gernandt, D. S., Shen, R., Mockler, T. (2008) Multiplex sequencing of plant

chloroplast genomes using Solexa sequencing-by-synthesis technology. Nucl Acids Res. 36(19), e122.

Darby AC, Hall N (2008) Fast forward genetics. Nat Biotech. 26(11), 1248-1249.

Enserink M (2008) Genomics. Read all about it--the first female genome! Or is it?. Science. 320(5881), 1274.

Estivill, X., Armengol, L. (2007) Copy Number Variants and Common Disorders: Filling the Gaps and Exploring

Complexity in Genome-Wide Association Studies. PLoS Genetics. 3(10), 1787-1799.

Fan HC, Blumenfeld YJ, Chitkara U, Hudgins L, Quake SR (2008) Noninvasive diagnosis of fetal aneuploidy by

shotgun sequencing DNA from maternal blood. PNAS. 105(42), 16266-16271.

Fay DS (2008) Classical genetics goes high-tech. Nat Methods. 5, 863-864.

Ganal MW, Altmann T, Röder MS (2009) SNP identification in crop plants. Curr Opin Plant Biol. Epub,

doi:10.1016/j.pbi.2008.12.009.

Goodier JL, Kazazian HH Jr (2008) Retrotransposons revisited: the restraint and rehabilitation of parasites. Cell.

135(1), 23-35.

GA Publications www.illumina.com 42/4/2009

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Genome AnalyzerSelected Publications

Genome sequence analysis

Hayes BJ, Bowman PJ, Chamberlain AJ, Goddard ME (2009) Genomic selection in dairy cattle: Progress and

challenges. J Dairy Sci. 92, 433-443.

Hayton K, Su XZ (2008) Drug resistance and genetic mapping in Plasmodium falciparum. Curr Genetics. 54(5),

223-239.

Hillier, L. W., Marth, G. T., Quinlan, A. R., Dooling, D., Fewell, G., Barnett, D., Fox, P., Glasscock, J. I.,

Hickenbotham, M., Huang, W., Magrini, V. J., Richt, R. J., Sander, S. N., Stewart, D. A., Stromberg, M., Tsung, E.

F., Wylie, T., Schedl, T., Wilson, R. K., Mardis, E. R. (2008) Whole-genome sequencing and variant discovery in

C. elegans. Nat Methods. 5, 183-188.

Jao LE, Maddison L, Chen W, Burgess SM (2008) Using retroviruses as a mutagenesis tool to explore the

zebrafish genome. Brief Funct Genomic Proteomic. Epub, doi:10.1093/bfgp/eln038 .

Käller M, Lundeberg J, Ahmadian A (2008) Arrayed identification of DNA signatures. Expert Rev Mol Diagn. 7(1),

65-76.

Lang L (2008) Three Sequencing Companies Join the 1000 Genomes Project. Gastroenterology. 135(2), 336-337.

Levy S, Strausberg RL (2008) Human genetics: Individual genomes diversify. Nature. 456(7218), 49-51.

Ley TJ, Mardis ER, Ding L et al (2008) DNA sequencing of a cytogenetically normal acute myeloid leukaemia

genome. Nature. 456(7218), 66-72.

Li B, Leal SM (2008) Methods for detecting associations with rare variants for common diseases: application to

analysis of sequence data. Am J Hum Genet. 83(3), 311-321.

Lin, J., Li, M. (2008) Molecular profiling in the age of cancer genomics. Expert Rev Mol Diagn. 8(3), 263-276.

Maher B (2008) Personal genomes: The case of the missing heritability. Nature. 456(7218), 18-21.

Marguerat S, Wilhelm BT, Bähler J (2008) Next-generation sequencing: applications beyond genomes. Biochem

Soc Trans. 36(Pt 5), 1091-1096.

Messing J (2009) Synergy of Two Reference Genomes for the Grass Family. Plant Physiol. 149, 117-124.

Moens CB, Donn TM, Wolf-Saxon ER, Ma TP (2008) Reverse genetics in zebrafish by TILLING. Brief Funct

Genomic Proteomic. Epub, .

Moerman DG, Barstead RJ (2008) Towards a mutation in every gene in Caenorhabditis elegans. Brief Funct

Genomic Proteomic. 7(3), 195-204.

Morozova, O., Marra, M. A. (2008) From cytogenetics to next-generation sequencing technologies: advances in

the detection of genome rearrangements in tumors1. Biochem Cell Biol. 86, 81-91.

Quail MA, Kozarewa I, Smith F, Scally A, Stephens PJ, Durbin R, Swerdlow H, Turner DJ (2008) A large genome

center's improvements to the Illumina sequencing system. Nat Methods. 5, 1005-1010.

Ropers HH (2007) New Perspectives for the Elucidation of Genetic Disorders. Am J Hum Genet. 81(2), 199-207.

Sarin, S., Prabhu, S., O'Meara, M. M., Pe'er, I., Hobert, O. (2008) Caenorhabditis elegans mutant allele

identification by whole-genome sequencing. Nat Methods. 5(10), 865-867.

Schuster SC (2008) Next-generation sequencing transforms today’s biology. Nat Methods. 5(1), 16-18.

Sellner EM, Kim JW, McClure MC, Taylor KH, Schnabel RD, Taylor JF (2007) Board-invited review: Applications

of genomic information in livestock. J Anim Sci. 85(12), 3148-3158.

Shen Y, Sarin S, Liu Y, Hobert O, Pe'er I (2008) Comparing Platforms for C. elegans Mutant Identification Using

High-Throughput Whole-Genome Sequencing. PLoS One. 3(12), e4012.

GA Publications www.illumina.com 52/4/2009

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Genome AnalyzerSelected Publications

Genome sequence analysis

Smith, D. R., Quinlan, A. R., Peckham, H. E., Makowsky, K., Tao, W., Woolf, B., Shen, L., Donahue, W. F.,

Tusneem, N., Stromberg, M. P., Stewart, D. A., Zhang, L., Ranade, S. S., Warner, J. B., Lee, C. C., Coleman, B.

E., Zhang, Z., McLaughlin, S. F., Malek, J. A., Sorenson, J. M., Blanchard, A. P., Chapman, J., Hillman, D., Chen,

F., Rokhsar, D. S., McKernan, K. J., Jeffries, T. W., Marth, G. T., Richardson, P. M. (2008) Rapid whole-genome

mutational profiling using next-generation sequencing technologies. Genome Res. Epub,

doi:10.1101/gr.077776.108.

Sturre MJG, Shirzadian-Khorramabad R, Schippers JHM, Chin-A-Woeng TFC, Hille J, Dijkwel PP (2008) Method

for the identification of single mutations in large genomic regions using massive parallel sequencing. Mol

Breeding. 23(1), 51-59.

Takahashi JS, Shimomura K, Kumar V (2008) Searching for genes underlying behavior: lessons from circadian

rhythms. Science. 322(5903), 909-912.

van Ommen GJ (2008) Popper revisited: GWAS here, last year. Eur J Hum Genet. 16(1), 1-2.

Van Tassell, C. P., Smith, T. P. L., Matukumalli, L. K., Taylor, J. F., Schnabel, R. D., Lawley, C. T., Haudenschild,

C. D., Moore, S. S., Warren, W. C., Sonstegard, T. S. (2008) SNP discovery and allele frequency estimation by

deep sequencing of reduced representation libraries. Nat Methods. 5, 247 - 252.

Voisey, J., Morris, C. P. (2008) SNP technologies for drug discovery: a current review. Curr Drug Discov Technol.

5(3), 230-235.

Wang J, Wang W, Li R et al (2008) The diploid genome sequence of an Asian individual. Nature. 456(7218), 60

-65.

Wendl, M.C., Wilson, R. K. (2008) Aspects of coverage in medical DNA sequencing. BMC Bioinformatics. 9, 239

(doi:10.1186/1471-2105-9-239).

Wicker T, Narechania A, Sabot F, Stein J, Vu GT, Graner A, Ware D, Stein N (2008) Low-pass shotgun

sequencing of the barley genome facilitates rapid identification of genes, conserved non-coding sequences and

novel repeats. BMC Genomics. 9(1), 518.

Wicker W, Krattinger S, Lagudah ES, Komatsuda T, Pourkheirandish M, Matsumoto T, Cloutier S, Reiser L,

Kanamori H, Sato K, Perovic D, Stein N, Keller B (2008) Analysis of intraspecies diversity in wheat and barley

genomes identifies breakpoints of ancient haplotypes and provides insight in the structure of diploid and hexaploid

Triticeae gene pools. Plant Physiol. Epub, 10.1104/pp.108.129734.

Woods IG, Schier AF (2008) Targeted mutagenesis in zebrafish. Nat Biotech. 26(6), 650-651.

GA Publications www.illumina.com 62/4/2009

Page 7: Genome sequence analysis - bip.weizmann.ac.il fileGenome Analyzer Selected Publications Genome sequence analysis McCutcheon,J.P.,Moran,N.A.(2007)Parallelgenomicevolutionandmetabolicinterdependenceinanancient

Genome AnalyzerSelected Publications

Epigenome analysis

Epigenome analysis

Rouhi, A., Mager, D. L., Humphries, R. K., Kuchenbauer, F. (2008) MiRNAs, epigenetics, and cancer. Mamm

Genome. epub, 10.1007/s00335-008-9133-x.

Bock, C., Lengauer, T. (2007) Computational epigenetics. Bioinformatics. 24(1), 1-10.

Appasani, K. (2007) Epigenomics and sequencing: an intertwined and emerging big science of the next decade.

Pharmacogenomics. 8(9), 1109-1113.

Baylin SB, Schuebel KE (2007) Genomic biology: the epigenomic era opens. Nature. 448(7153), 548-549.

Beck, S., Rakyan, V. K. (2008) The methylome: approaches for global DNA methylation profiling. Trends Genet.

24(5), 231-237.

Bonetta, L. (2008) Epigenomics: Detailed analysis. Nature. 454, 795-798.

Brennecke J, Malone CD, Aravin AA, Sachidanandam R, Stark A, Hannon GJ (2008) An epigenetic role for

maternally inherited piRNAs in transposon silencing. Science. 322(5906), 1387-92.

Cokus, S. J., Feng, S., Zhang, X., Chen, Z., Merriman, B., Haudenschild, C. D., Pradhan, S., Nelson, S. F.,

Pellegrini, M., Jacobsen, S. E. (2008) Shotgun bisulphite sequencing of the Arabidopsis genome reveals DNA

methylation patterning. Nature. 452(7184), 215-219.

Jeddeloh, J. A., Greally, J. M., Rando, O. J. (2008) Reduced-representation methylation mapping. Genome Biol. 9

(8), 231.

Lister, R., O'Malley, R. C., Tonti-Filippini, J., Gregory, B. D., Berry, C. C., Millar, A. H., Ecker, J. R. (2008) Highly

integrated single-base resolution maps of the epigenome in Arabidopsis. Cell. 133(3), 523-536.

Meissner A, Bernstein BE (2008) Sequencing the Epigenome. Epigenomics. 10.1007/978-1-4020-9187-2, 19-35.

Meissner, A., Mikkelsen, T. S., Gu, H., Wernig, M., Hanna, J., Sivachenko, A., Zhang, X., Bernstein, B. E.,

Nusbaum, C., Jaffe, D. B., Gnirke, A., Jaenisch, R., Lander, E. S. (2008) Genome-scale DNA methylation maps of

pluripotent and differentiated cells. Nature. 454(7205), 766-770.

Muhonen P, Holthofer H (2009) Epigenetic and microRNA-mediated regulation in diabetes. Nephrol Dial

Transplant. Epub, doi:10.1093/ndt/gfn728.

Pflumm, M. (2008) Tuning in to flower power. Nat Methods. 5, 463.

Pomraning KR, Smith KM, Freitag M (2008) Genome-wide high throughput analysis of DNA methylation in

eukaryotes. Methods. Epub, .

Rusk N (2008) Mapping the plant methylome. Nat Methods. 5(4), 284-285.

Stöger R (2008) Epigenetics and obesity. Pharmacogenomics. 9(12), 1851-1860.

Suzuki MM, Bird A (2008) DNA methylation landscapes: provocative insights from epigenomics. Nat Rev

Genetics. 9(6), 465-476.

Zhang, X. (2008) The Epigenetic Landscape of Plants. Science. 320(5875), 489-492.

Zhu, J. K. (2008) Epigenome sequencing comes of age. Cell. 133(3), 395-397.

Zilberman, D., Henikoff, S. (2007) Genome-wide analysis of DNA methylation patterns. Development. 134, 3959

-3965.

Goymer, P. (2007) Mapping the methylome without chips. Nat Genetics. 8, 489 - 489.

GA Publications www.illumina.com 72/4/2009

Page 8: Genome sequence analysis - bip.weizmann.ac.il fileGenome Analyzer Selected Publications Genome sequence analysis McCutcheon,J.P.,Moran,N.A.(2007)Parallelgenomicevolutionandmetabolicinterdependenceinanancient

Genome AnalyzerSelected Publications

Epigenome analysis

Henderson, I. R., Jacobsen, S. E. (2008) Tandem repeats upstream of the Arabidopsis endogene SDC recruit

non-CG DNA methylation and initiate siRNA spreading. Genes Dev. 22, 1597-1606.

Wang, Z., Zang, C., Rosenfeld, J. A., Schones, D. E., Barski, A., Cuddapah, S., Cui, K., Roh, T. Y., Peng, W.,

Zhang, M. Q., Zhao, K. (2008) Combinatorial patterns of histone acetylations and methylations in the human

genome. Nat Genetics. 40(7), 897-903.

Xu, H., Wei, C. L., Lin, F., Sung, W. K. (2008) An HMM approach to genome-wide identification of differential

histone modification sites from ChIP-seq data. Bioinformatics. 24(20), 2344-2349.

Zheng, D. (2008) Asymmetric histone modifications between the original and derived loci of human segmental

duplications. Genome Biol. 9(7), R105.

Gargiulo G, Minucci S (2009) Epigenomic profiling of cancer cells. Int J Biochem Cell Biol. 41(1), 127-135.

Park PJ (2008) Epigenetics meets next-generation sequencing. Epigenetics. 3(6), Epub.

Tanurdzic M, Vaughn MW, Jiang H, Lee TJ, Slotkin RK, Sosinski B, Thompson WF, Doerge RW, Martienssen RA

(2008) Epigenomic Consequences of Immortalized Plant Cell Suspension Culture. PLoS Biol. 6(12), e302.

GA Publications www.illumina.com 82/4/2009

Page 9: Genome sequence analysis - bip.weizmann.ac.il fileGenome Analyzer Selected Publications Genome sequence analysis McCutcheon,J.P.,Moran,N.A.(2007)Parallelgenomicevolutionandmetabolicinterdependenceinanancient

Genome AnalyzerSelected Publications

Transcriptome analysis

Transcriptome analysis

Asmann YW, Wallace MB, Thompson EA (2008) Transcriptome Profiling Using Next-Generation Sequencing.

Gastroenterology. 135(5), 1466-1468.

Bonetta, L. (2006) Gene expression: one size does not fit all. Nat Methods. 3(5), 401-409.

Buell CR (2009) Poaceae Genomes: Going from Unattainable to Becoming a Model Clade for Comparative Plant

Genomics. Plant Physiol. 149(1), 111-116.

Buratowski S (2008) Transcription. Gene expression--where to start?. Science. 322(5909), 1804-1805.

Chen, X., Ba, Y., Ma, L., Cai, X., Yin, Y., Wang, K., Guo, J., Zhang, Y., Chen, J., Guo, X., Li, Q., Li, X., Wang, W.,

Zhang, Y., Wang, J., Jiang, X., Xiang, Y., Xu, C., Zheng, P., Zhang, J., Li, R., Zhang, H., Shang, X., Gong, T.,

Ning, G., Wang, J., Zen, K., Zhang, J., Zhang, C. Y. (2008) Characterization of microRNAs in serum: a novel class

of biomarkers for diagnosis of cancer and other diseases. Cell Res. Epub, doi: 10.1038/cr.2008.282.

Core LJ, Waterfall JJ, Lis JT (2008) Nascent RNA Sequencing Reveals Widespread Pausing and Divergent

Initiation at Human Promoters. Science. 322(5909), 1845-1848.

de Hoon, M., Hayashizaki, Y. (2008) Deep cap analysis gene expression (CAGE): genome-wide identification of

promoters, quantification of their expression, and network inference. Biotechniques. 44(5), 627-632.

Denoeud F, Aury JM, Da Silva C, Noel B, Rogier O, Delledone M, Morgante M, Valle G, Wincker P, Scarpelli C,

Jaillon O, Artiguenave F (2008) Annotating genomes with massive-scale RNA-sequencing. Genome Biol. 9(12),

R175.

Flintoft, L. (2008) Transcriptomics: Digging deep with RNA-Seq. Nat Genetics. 9, 568-568.

Graveley, B. R. (2008) Molecular Biology: Power Sequencing. Nature. 453, 1197-1198.

Hanriot L, Keime C, Gay N, Faure C, Dossat C, Wincker P, Scoté-Blachon C, Peyron C, Gandrillon O. (2008) A

combination of LongSAGE with Solexa sequencing is well suited to explore the depth and the complexity of

transcriptome. BMC Genomics. 9, 418.

Hillier LW, Reinke V, Green P, Hirst M, Marra MA, Waterston RH (2009) Massively parallel sequencing of the poly-

adenylated transcriptome of C. elegans. Genome Res. Epub, doi:10.1101/gr.088112.108.

Huang M-D, Wei F-J, Wu C-C, Hsing Y-I C, Huang AHC (2008) Analyses of advanced rice anther transcriptomes

reveal global tapetum secretory functions and potential proteins for lipid exine formation. Plant Physiol. Epub,

10.1104/pp.108.131128.

Jones, S., Zhang, X., Parsons, D. W., Lin, J. C., Leary, R. J., Angenendt, P., Mankoo, P., Carter, H., Kamiyama,

H., Jimeno, A., Hong, S. M., Fu, B., Lin, M. T., Calhoun, E. S., Kamiyama, M., Walter, K., Nikolskaya, T., Nikolsky,

Y., Hartigan, J., Smith, D. R., Hidalgo, M., Leach, S. D., Klein, A. P., Jaffee, E. M., Goggins, M., Maitra, A.,

Iacobuzio-Donahue, C., Eshleman, J. R., Kern, S. E., Hruban, R. H., Karchin, R., Papadopoulos, N., Parmigiani,

G., Vogelstein, B., Velculescu, V. E., Kinzler, K. W. (2008) Core signaling pathways in human pancreatic cancers

revealed by global genomic analyses. Science. 321(5897), 1801-1806.

Kapur K, Jiang H, Xing Y, Wong WH (2008) Cross-Hybridization Modeling on Affymetrix Exon Arrays.

Bioinformatics. Epub, .

Ledford H (2008) Human genes are multitaskers. Nature. Epub, doi:10.1038/news.2008.1199.

Lehrach H (2008) Gen-Sequenzierung und Expressionsprofile in Diagnostik und Prognose. J Verbr Lebensm. 3

(1), 47-48.

GA Publications www.illumina.com 92/4/2009

Page 10: Genome sequence analysis - bip.weizmann.ac.il fileGenome Analyzer Selected Publications Genome sequence analysis McCutcheon,J.P.,Moran,N.A.(2007)Parallelgenomicevolutionandmetabolicinterdependenceinanancient

Genome AnalyzerSelected Publications

Transcriptome analysis

Li H, Lovci MT, Kwon Y-S, Rosenfeld MG, Fu X-D, Yeo GW (2008) Determination of tag density required for digital

transcriptome analysis: Application to an androgen-sensitive prostate cancer model. PNAS. Epub,

10.1073/pnas.0807121105.

Maher CA, Kumar-Sinha C, Cao X, Kalyana-Sundaram S, Han B, Jing X, Sam L, Barrette T, Palanisamy N,

Chinnaiyan AM. (2009) Transcriptome sequencing to detect gene fusions in cancer. Nature. Epub,

doi:10.1038/nature07638.

Marioni, J., Mason, C., Mane, S., Stephens, M., Gilad, Y. (2008) RNA-seq: An assessment of technical

reproducibility and comparison with gene expression arrays. Genome Res. 18(8), DOI: 10.1101/gr.079558.108.

McGhee JD, Fukushige T, Krause MW, Minnema SE, Goszczynski B, Gaudet J, Kohara Y, Bossinger O, Zhao Y,

Khattra J, Hirst M, Jones SJ, Marra MA, Ruzanov P, Warner A, Zapf R, Moerman DG, Kalb JM (2009) ELT-2 is

the predominant transcription factor controlling differentiation and function of the C. elegans intestine, from embryo

to adult. Dev Bio. Epub, doi:10.1016/j.ydbio.2008.11.034 .

Morin, R. D., Bainbridge, M., Fejes, A., Hirst, M., Krzywinski, M., Pugh, T. J., McDonald, H., Varhol, R., Jones, S.

J. M., Marra, M. A. (2008) Profiling the HeLa S3 transcriptome using randomly primed cDNA and massively

parallel short-read sequencing. Biotechniques. 44(8), online.

Mortazavi, A., Williams, B. A., McCue, K., Schaeffer, L., Wold, B. (2008) Mapping and quantifying mammalian

transcriptomes by RNA-Seq. Nat Methods. 5, 621-628.

Mudge J, Miller NA, Khrebtukova I, Lindquist IE, May GD, Huntley JJ, Luo S, Zhang L, van Velkinburgh JC,

Farmer AD, Lewis S, Beavis WD, Schilkey FD, Virk SM, Black CF, Myers MK, Mader LC, Langley RJ, Utsey JP,

Kim RW, Roberts RC, Khalsa SK, Garcia M, Ambriz-Griffith V, Harlan R, Czika W, Martin S, Wolfinger RD,

Perrone-Bizzozero NI, Schroth GP, Kingsmore SF (2008) Genomic convergence analysis of schizophrenia: mRNA

sequencing reveals altered synaptic vesicular transport in post-mortem cerebellum. PLoS One. 3(11), e3625.

Nagalakshmi, U., Wang, Z., Waern, K., Shou, C., Raha, D., Gerstein, M., Snyder, M. (2008) The Transcriptional

Landscape of the Yeast Genome Defined by RNA Sequencing. Science. 320(5881), 1344-1349.

Pan Q, Shai O, Lee LJ, Frey BJ, Blencowe BJ (2008) Deep surveying of alternative splicing complexity in the

human transcriptome by high-throughput sequencing. Nat Genetics. Epub, .

Parsons DW, Jones S, Zhang X, Lin JC, Leary RJ, Angenendt P, Mankoo P, Carter H, Siu IM, Gallia GL, Olivi A,

McLendon R, Rasheed BA, Keir S, Nikolskaya T, Nikolsky Y, Busam DA, Tekleab H, Diaz LA Jr, Hartigan J, Smith

DR, Strausberg RL, Marie SK, Shinjo SM, Yan H, Riggins GJ, Bigner DD, Karchin R, Papadopoulos N, Parmigiani

G, Vogelstein B, Velculescu VE, Kinzler KW. (2008) An integrated genomic analysis of human glioblastoma

multiforme. Science. 321(5897), 1807-1812.

Redding KE, Cole DG (2008) Chlamydomonas: a sexually active, light-harvesting, carbon-reducing, hydrogen-

belching 'planimal'. Conference on the Cell & Molecular Biology of Chlamydomonas. EMBO Rep.. 9(12), 1182

-1187.

Rosenkranz, R., Borodina, T., Lehrach, H., Himmelbauer, H. (2008) Characterizing the mouse ES cell

transcriptome with Illumina sequencing. Genomics. 92(4), 187-194.

Rupert, J. L. (2008) Genomics and environmental hypoxia: what (and how) we can learn from the transcriptome.

High Alt Med Biol. 9(2), 115–122.

Shao YM, Dong K, Tang ZH, Zhang CX (2008) Molecular characterization of a sodium channel gene from the

Silkworm Bombyx mori. Insect Biochem Mol Biol. Epub, doi:10.1016/j.ibmb.2008.10.005 .

Shendure, J. (2008) The beginning of the end for microarrays?. Nat Methods. 5(7), 585-587.

Simon SA, Zhai J, Nandety RS, McCormick KP, Zeng J, Mejia D, Meyers BC (2009) Short-Read Sequencing

Technologies for Transcriptional Analyses. Annu Rev Plant Biol. 60, Epub.

GA Publications www.illumina.com 102/4/2009

Page 11: Genome sequence analysis - bip.weizmann.ac.il fileGenome Analyzer Selected Publications Genome sequence analysis McCutcheon,J.P.,Moran,N.A.(2007)Parallelgenomicevolutionandmetabolicinterdependenceinanancient

Genome AnalyzerSelected Publications

Transcriptome analysis

Sultan, M., Schulz, M. H., Richard, H., Magen, A., Klingenhoff, A., Scherf, M., Seifert, M., Borodina, T., Soldatov,

A., Parkhomchuk, D., Schmidt, D., O'Keeffe, S., Haas, S., Vingron, M., Lehrach, H., Yaspo, M. L. (2008) A Global

View of Gene Activity and Alternative Splicing by Deep Sequencing of the Human Transcriptome. Science. 321

(5891), 956-960.

't Hoen PA, Ariyurek Y, Thygesen HH, Vreugdenhil E, Vossen RH, de Menezes RX, Boer JM, van Ommen GJ,

den Dunnen JT (2008) Deep sequencing-based expression analysis shows major advances in robustness,

resolution and inter-lab portability over five microarray platforms. Nucl Acids Res. Epub, doi:10.1093/nar/gkn705.

Trinkle-Mulcahy, L., Lamond, A. (2008) Nuclear functions in space and time: Gene expression in a dynamic,

constrained environment. FEBS Letters. 582(14), 1960-1970.

Vega-Sáncheza, M. E., Gowdaa, M., Wang, G-L. (2007) Tag-based approaches for deep transcriptome analysis in

plants. Plant Sci. 173(4), 371-380.

Wakaguri H, Suzuki Y, Katayama T, Kawashima S, Kibukawa E, Hiranuka K, Sasaki M, Sugano S, Watanabe J

(2008) Full-Malaria/Parasites and Full-Arthropods: databases of full-length cDNAs of parasites and arthropods,

update 2009. Nucl Acids Res. Epub, doi:10.1093/nar/gkn856.

Wakaguri, H., Yamashita, R., Suzuki, S., Sugano, S., Nakai, K. (2007) DBTSS: database of transcription start

sites, progress report 2008. Nucl Acids Res. 36, D97-D101.

Wang ET, Sandberg R, Luo S, Khrebtukova I, Zhang L, Mayr C, Kingsmore SF, Schroth GP, Burge CB (2008)

Alternative isoform regulation in human tissue transcriptomes. Nature. Epub, .

Wang X, Sun Q, McGrath SD, Mardis ER, Soloway PD, Clark AG (2008) Transcriptome-wide identification of

novel imprinted genes in neonatal mouse brain. PLoS One. 3(12), e3839.

Wang Z, Gerstein M, Snyder M (2008) RNA-Seq: a revolutionary tool for transcriptomics. Nat Rev Genetics.

Epub, .

Wilhelm, B. T., Marguerat, S., Watt, S., Schubert, F., Wood, V., Goodhead, I., Penkett, C. J., Rogers, J., Ba¨hler,

J. (2008) Dynamic repertoire of a eukaryotic transcriptome surveyed at single-nucleotide resolution. Nature. Epub,

doi:10.1038/nature07002.

Wilson, M. D., Barbosa-Morais, N. L., Schmidt, D., Conboy, C. M., Vanes, L., Tybulewicz, V. L., Fisher, E. M.,

Tavaré, S., Odom, D. T. (2008) Species-Specific Transcription in Mice Carrying Human Chromosome 21. Science.

Epub, DOI: 10.1126/science.1160930.

Xiang Z, Mita K, Xia Q, Wang J, Morishita S, Shimada T (2008) The genome of a lepidopteran model insect, the

silkworm Bombyx mori. Insect Biochem Mol Biol. Epub, 10.1016/j.ibmb.2008.11.004.

Addo-Quaye, C., Eshoo, T. W., Bartel, D. P., Axtell, M. J. (2008) Endogenous siRNA and miRNA targets identified

by sequencing of the Arabidopsis degradome. Curr Biol. 18(10), 758-762.

Aravin AA, Sachidanandam R, Bourc'his D, Schaefer C, Pezic D, Toth KF, Bestor T, Hannon GJ (2008) A piRNA

pathway primed by individual transposons is linked to de novo DNA methylation in mice. Molecular Cell. 31(6), 785

-799.

Babiarz JE, Ruby JG, Wang Y, Bartel DP, Blelloch R (2008) Mouse ES cells express endogenous shRNAs,

siRNAs, and other Microprocessor-independent, Dicer-dependent small RNAs. Genes Dev. 22(20), 2773-2785.

Carninci, P. (2008) Hunting hidden transcripts. Nat Methods. 5(7), 587-589.

Chellappan P, Jin H (2009) Discovery of Plant MicroRNAs and Short-Interfering RNAs by Deep Parallel

Sequencing. Methods Mol Biol. 495, 1-12.

GA Publications www.illumina.com 112/4/2009

Page 12: Genome sequence analysis - bip.weizmann.ac.il fileGenome Analyzer Selected Publications Genome sequence analysis McCutcheon,J.P.,Moran,N.A.(2007)Parallelgenomicevolutionandmetabolicinterdependenceinanancient

Genome AnalyzerSelected Publications

Transcriptome analysis

Chen, J., Lozach, J., Garcia, E. W., Barnes, B., Luo, S., Mikoulitch, I., Zhou, L., Schroth, G., Fan, J. B. (2008)

Highly sensitive and specific microRNA expression profiling using BeadArray technology. Nucl Acids Res. 36(14),

e87.

Chin LJ, Slack FJ (2008) A truth serum for cancer--microRNAs have major potential as cancer biomarkers. Cell

Res. 18(10), 983-984.

Chung, W. J., Okamura, K., Martin, R., Lai, E. C. (2008) Endogenous RNA interference provides a somatic

defense against Drosophila transposons. Curr Biol. 18(11), 795-802.

Czech, B., Malone, C. D., Zhou, R., Stark, A., Schlingeheyde, C., Dus, M., Perrimon, P., Kellis, M., Wohlschlegel,

J. A., Sachidanandam, R., Hannon, G. J., Brennecke, J. (2008) An endogenous small interfering RNA pathway in

Drosophila. Nature. 453, doi:10.1038/nature07007.

German, M. A., Pillay, M., Jeong, D-H., Hetawal, A., Luo, S., Janardhanan, P., Kannan, V., Rymarquis, L. A.,

Nobuta, K., German, R., De Paoli, E., Lu, C., Schroth, G., Meyers, B. C., Green, P. J. (2008) Global identification

of microRNA–target RNA pairs by parallel analysis of RNA ends. Nat Biotech. 26(8), 941-946.

Ghildiyal, M., Seitz, H., Horwich, M. D., Li, C., Du, T., Lee, S., Xu, J., Ellen L.W. Kittler, E. L. W., Zapp, M. L.,

Weng, Z., Zamore, P. D. (2008) Endogenous siRNAs Derived from Transposons and mRNAs in Drosophila

Somatic Cells. Science. 320(5879), 1077 - 1081.

Glazov, E. A., Cottee, P. A., Barris, W. C., Moore, R. J., Dalrymple, B. P., Tizard, M. L. (2008) A microRNA catalog

of the developing chicken embryo identified by a deep sequencing approach. Genome Res. 18, 957-964.

Gregory, B. D., O’Malley, R. C., Lister, R., Urich, M. A., Tonti-Filippini, J., Chen, H., Millar, A. H., Ecker, J. R.

(2008) A Link between RNA Metabolism and Silencing Affecting Arabidopsis Development. Developmental Cell.

14, 854–866.

Grimson, A., Srivastava, M., Fahey, B., Woodcroft, B. J., Chiang, H. R., King, N., Degnan, B. M., Rokhsar; D. S.,

Bartel, D. P. (2008) Early origins and evolution of microRNAs and Piwi-interacting RNAs in animals. Nature. Epub,

doi:10.1038/nature07415.

Hafner, M., Landgraf, P., Ludwig, J., Rice, A., Ojo, T., Lin, C., Holoch, D., Lim, C., Tuschl, T. (2008) Identification

of microRNAs and other small regulatory RNAs using cDNA library sequencing. Methods. 44, 3-12.

Henderson, I. R., Jacobsen, S. E. (2008) Sequencing sliced ends reveals microRNA targets. Nat Biotech. 26(8),

881-882.

Ibarra, I., Erlich, Y., Muthuswamy, S. K., Sachidanandam, R., and Hannon, G. J. (2008) A role for microRNAs in

maintenance of mouse mammary epithelial progenitor cells. Genes Dev. 21, 3238-3243.

Kawamura, Y., Saito, K., Kin, T., Ono, Y., Asai, K., Sunohara, T., Okada, T. N., Siomi, M. C., Siomi, H. (2008)

Drosophila endogenous small RNAs bind to Argonaute 2 in somatic cells. Nature. 453, 793-797.

Kuchenbauer F, Morin RD, Argiropoulos B, Petriv OI, Griffith M, Heuser M, Yung E, Piper J, Delaney A, Prabhu

AL, Zhao Y, McDonald H, Zeng T, Hirst M, Hansen CL, Marra MA, Humphries RK (2008) In-depth characterization

of the microRNA transcriptome in a leukemia progression model. Genome Res. 18(11), 1787-1797.

Lehrbach, N. J., Miska, E. A. (2008) Functional genomic, computational and proteomic analysis of C. elegans

microRNAs. Brief Funct Genomic Proteomic. 7(3), 228-35.

Lu, C., Meyers, B. C., Green, P. J. (2007) Construction of small RNA cDNA libraries for deep sequencing.

Methods. 43(2), 110-117.

Meyers, B. C., Souret, F. F., Lu, C., Green, P. J. (2006) Sweating the small stuff: microRNA discovery in plants.

Curr Opin Biotech. 17(2), 139-146.

GA Publications www.illumina.com 122/4/2009

Page 13: Genome sequence analysis - bip.weizmann.ac.il fileGenome Analyzer Selected Publications Genome sequence analysis McCutcheon,J.P.,Moran,N.A.(2007)Parallelgenomicevolutionandmetabolicinterdependenceinanancient

Genome AnalyzerSelected Publications

Transcriptome analysis

Mi, S., Cai, T., Hu, Y., Chen, C., Hodges, E., Ni, F., Wu, L., Li, S., Zhou, H., Long, C., Chen, S., Hannon, G. J., Qi,

Y. (2008) Sorting of Small RNAs into Arabidopsis Argonaute Complexes Is Directed by the 5' Terminal Nucleotide.

Cell. 133, 116-127.

Montgomery TA, Yoo SJ, Fahlgren N, Gilbert SD, Howell MD, Sullivan CM, Alexander A, Nguyen G, Allen E, Ahn

JH, Carrington JC (2008) AGO1-miR173 complex initiates phased siRNA formation in plants. PNAS. 105(51),

20055–20062.

Montgomery, T. A., Howell, M. D., Cuperus, J. T., Li, D., Hansen, J. E., Alexander, A. L., Chapman, E. J.,

Fahlgren, N., Allen, E., Carrington, J. C. (2008) Specificity of ARGONAUTE7-miR390 Interaction and Dual

Functionality in TAS3 Trans-Acting siRNA Formation. Cell. 133(1), 128-141.

Morgan R, Anderson A, Bernberg E, Kamboj S, Huang E, Lagasse G, Isaacs G, Parcells M, Meyers BC, Green

PJ, Burnside J (2008) Sequence Conservation and Differential Expression of Marek's Disease Virus MicroRNAs. J

Virol. 82(24), 12213-12220.

Morin, R. D., O’Connor, M. D., Griffith, M., Kuchenbauer, F., Delaney, A., Prabhu, A., Zhao, Y., McDonald, H.,

Zeng, T., Hirst, M., Eaves, C. J., Marra, M. A. (2008) Application of massively parallel sequencing to microRNA

profiling and discovery in human embryonic stem cells. Genome Res. 18(4), 610-621.

Murchison EP, Kheradpour P, Sachidanandam R, Smith C, Hodges E, Xuan Z, Kellis M, Grützner F, Stark A,

Hannon GJ (2008) Conservation of small RNA pathways in platypus. Genome Res. , 18(6):995-1004.

Nagaraja AK, Andreu-Vieyra C, Franco HL, Ma L, Chen R, Han DY, Zhu H, Agno JE, Gunaratne PH, DeMayo FJ,

Matzuk MM (2008) Deletion of Dicer in Somatic Cells of the Female Reproductive Tract Causes Sterility. Mol

Endocrinol. 22(10), 2336-2352.

Nelson KM, Weiss GJ (2008) MicroRNAs and cancer: past, present, and potential future. Mol Cancer Ther. 7(12),

3655–3660.

Nobuta, K., Lu, C., Shrivastava, R., Pillay, M., De Paoli, E., Accerbi, M., Arteaga-Vazquez, M., Sidorenko, L.,

Jeong, D. H., Yen, Y., Green, P. J., Chandler, V. L., Meyers, B. C. (2008) Distinct size distribution of endogeneous

siRNAs in maize: Evidence from deep sequencing in the mop1-1 mutant. PNAS. 105(39), 14958-63.

Okamura, K., Chung, W-J., Ruby, J. G., Guo, H., Bartel, D. P., Lai, E. C. (2008) The Drosophila hairpin RNA

pathway generates endogenous short interfering RNAs. Nature. 453, 803-806.

Reid, J. G., Nagaraja, A. K., Lynn, F. C., Drabek, R. B., Muzny, D. M., Shaw, C. A., Weiss, M. K., Naghavi, A. O.,

Khan, M., Zhu, H., Tennakoon, J., Gunaratne, G. H., Corry, D. B., Miller, J., McManus, M. T., German, M. S.,

Gibbs, R. A., Matzuk, M. M., Gunaratne, P. H. (2008) Mouse let-7 miRNA populations exhibit RNA editing that is

constrained in the 5'-seed/ cleavage/anchor regions and stabilize predicted mmu-let-7a:mRNA duplexes. Genome

Res. Epub, doi:10.1101/gr.078246.108.

Rogaev EI, Islamgulov DV, Grigorenko AP (2008) MicroRNA in Neuropsychiatric Diseases. Current Perspectives

in microRNAs. Ying, S-Y (ed.), p 225-244.

Sasidharan R, Gerstein M (2008) Genomics: protein fossils live on as RNA. Nature. 453(7196), 729-731.

Stacey A, Simon SA, Zhai J, Zeng J, Meyers BC (2008) The Cornucopia of Small RNAs in Plant Genomes. Rice. 1

(1), 52-62.

Stark, A., Bushati, N., Jan, C. H., Kheradpour, P., Hodges, E., Brennecke, J. (2008) A single Hox locus in

Drosophila produces functional microRNAs from opposite DNA strands. Genes Dev. 22, 8-13.

Stark, A., Kheradpour, P., Parts, L., Brennecke, J., Hodges, E., Hannon, G. J., Kellis, M. (2007) Systematic

discovery and characterization of fly microRNAs using 12 Drosophila genomes. Genome Res. 17, 1865-1879.

GA Publications www.illumina.com 132/4/2009

Page 14: Genome sequence analysis - bip.weizmann.ac.il fileGenome Analyzer Selected Publications Genome sequence analysis McCutcheon,J.P.,Moran,N.A.(2007)Parallelgenomicevolutionandmetabolicinterdependenceinanancient

Genome AnalyzerSelected Publications

Transcriptome analysis

Szittya G, Moxon S, Santos DM, Jing R, Fevereiro MP, Moulton V, Dalmay T (2008) High-throughput sequencing

of Medicago truncatula short RNAs identifies eight new miRNA families. BMC Genomics. 9(1), 593.

Technau U (2008) Evolutionary biology: Small regulatory RNAs pitch in. Nature. 455, 1184-1185.

Tyler, D. M., Okamura, K., Chung, W., Hagen, J. W., Berezikov, E., Hannon, G. J., Lai, E. C. (2008) Functionally

distinct regulatory RNAs generated by bidirectional transcription and processing of microRNA loci. Genes Dev. 22,

26-36.

Wei Y, Chen S, Yang P, Ma Z, Kang L (2009) Characterization and comparative profiling of the small RNA

transcriptomes in two phases of locust. Genome Biol. 10(1), R6.

Yi R, Pasolli HA, Landthaler M, Hafner M, Ojo T, Sheridan R, Sander C, O'Carroll D, Stoffel M, Tuschl T, Fuchs E

(2009) DGCR8-dependent microRNA biogenesis is essential for skin development. PNAS. 106(2), 498-502.

Zhu, Q. H., Spriggs, A., Matthew, L., Fan, L., Kennedy, G., Gubler, F., Helliwell, C. (2008) A diverse set of

microRNAs and microRNA-like small RNAs in developing rice grains. Genome Res. 18(9), 1456-1465.

Ender C, Krek A, Friedländer MR, Beitzinger M, Weinmann L, Chen W, Pfeffer S, Rajewsky N, Meister G (2008) A

human snoRNA with microRNA-like functions. Mol Cell. 32(4), 519-528.

He Y, Vogelstein B, Velculescu VE, Papadopoulos N, Kinzler KW (2008) The Antisense Transcriptomes of Human

Cells. Science. Epub, 10.1126/science.1163853.

Myles KM, Wiley MR, Morazzani EM, Adelman ZN (2008) Alphavirus-derived small RNAs modulate pathogenesis

in disease vector mosquitoes. PNAS. 105(50), 19938-19943.

Petherick, A. (2008) Genetics: The production line. Nature. 454(7208), 1042-1045.

Seila AC, Calabrese JM, Levine SS, Yeo GW, Rahl PB, Flynn RA, Young RA, Sharp PA (2008) Divergent

Transcription from Active Promoters. Science. Epub, 10.1126/science.1162253.

Tam, O. H., Aravin, A. A., Stein, P., Girard, A., Murchison, E. P., Cheloufi, S., Hodges, E., Anger, M.,

Sachidanandam, R., Schultz, R. M., Hannon, G. J. (2008) Pseudogene-derived small interfering RNAs regulate

gene expression in mouse oocytes. Nature. 453(7194), 534-538.

Trafton, A (2008) MIT: Reversing The Conventional DNA Wisdom - Researchers Find DNA Is Transcribed By

Divergent Polymerases. Medical News Today. N, N.

Zimmer C (2008) Now: The Rest of the Genome. NY Times. Nov 11, Epub.

Silva, J. M., Marran, K., Parker, J. S., Silva, J., Golding, M., Schlabach, M. R., Elledge, S. J., Hannon, G. J.,

Chang, K. (2008) Profiling essential genes in human mammary cells by multiplex RNAi screening. Science. 319

(5863), 617-620.

GA Publications www.illumina.com 142/4/2009

Page 15: Genome sequence analysis - bip.weizmann.ac.il fileGenome Analyzer Selected Publications Genome sequence analysis McCutcheon,J.P.,Moran,N.A.(2007)Parallelgenomicevolutionandmetabolicinterdependenceinanancient

Genome AnalyzerSelected Publications

Protein-nucleic acid interactions

Protein-nucleic acid interactions

Alekseyenko, A. A., Peng, S., Larschan, E., Gorchakov, A. A., Lee, O. K., Kharchenko, P., McGrath, S. D., Wang,

C. I., Mardis, E. R., Park, P. J., Kuroda, M. I. (2008) A sequence motif within chromatin entry sites directs MSL

establishment on the Drosophila X chromosome. Cell. 134(4), 599-609.

Boyle, A. P., Davis, S., Shulha, H. P., Meltzer, P., Margulies, E. H., Weng, Z., Furey, T. S., Crawford, G. E.

(2008) High-Resolution Mapping and Characterization of Open Chromatin across the Genome. Cell. 132, 311-322.

Collas P, Dahl JA (2008) Chop it, ChIP it, check it: the current status of chromatin immunoprecipitation. Front

Biosci. 13, 929-943.

Cuddapah S, Jothi R, Schones DE, Roh T-Y, Cui K, Zhao K (2009) Global analysis of the insulator binding protein

CTCF in chromatin barrier regions reveals demarcation of active and repressive domains. Genome Res. 19(1), 24

-32.

Fu, Y., Sinha, M., Peterson, C. L., Weng, Z. (2008) The insulator binding protein CTCF positions 20 nucleosomes

around its binding sites across the human genome. PLoS Genetics. 4(7), e1000138.

Guenther MG, Lawton LN, Rozovskaia T, Frampton GM, Levine SS, Volkert TL, Croce CM, Nakamura T, Canaani

E, Young RA (2008) Aberrant chromatin at genes encoding stem cell regulators in human mixed-lineage leukemia.

Genes Dev. 22, 3403-3408 .

Hoffman B, Jones S (2009) Genome-wide identification of DNA-protein interactions using chromatin

immunoprecipitation coupled with flow cell sequencing (ChIP-Seq). J Endocrinol. , .

Kao CF, Chuang CY, Chen CH, Kuo HC (2008) Human pluripotent stem cells: current status and future

perspectives. Chin J Physiol. 51(4), 214-25.

Mendenhall, E. M., Bernstein, B. E. (2008) Chromatin state maps: new technologies, new insights. Curr Opin

Genet Dev. 18(2), 109-115.

Mikkelsen, T. S., Ku, M., Jaffe, D. B., Issac, B., Lieberman, E., Giannoukos, G., Alvarez, P., Brockman, W., Kim,

T-K., Koche, R. P., Lee, W., Mendenhall, E., O'Donovan, A., Presser, A., Russ, C., Xie, X., Meissner, A., Wernig,

M., Jaenisch, R., Nusbaum, C., Lander, E. S., Bernstein, B. (2007) Genome-wide maps of chromatin state in

pluripotent and lineage-committed cells. Nature. 448, 553-560.

Pauler FM, Sloane MA, Huang R, Regha K, Koerner M, Tamir I, Sommer A, Aszodi A, Jenuwein T, Barlow D

(2008) H3K27me3 forms BLOCs over silent genes and intergenic regions and specifies a histone banding pattern

on a mouse autosomal chromosome. Genome Res. Epub, .

Pflumm, M. (2008) Unraveling the nucleosome. Nat Methods. 5(8), 666.

Robertson AG, Bilenky M, Tam A, Zhao Y, Zeng T, Thiessen N, Cezard T, Fejes AP, Wederell ED, Cullum R,

Euskirchen G, Krzywinski M, Birol I, Snyder M, Hoodless PA, Hirst M, Marra MA, Jones SJ (2008) Genome-wide

relationship between histone H3 lysine 4 mono- and tri-methylation and transcription factor binding. Genome Res.

18(12), 1906-1917.

Sasaki S, Mello CC, Shimada A, Nakatani Y, Hashimoto S, Ogawa M, Matsushima K, Gu SG, Kasahara M, Ahsan

B, Sasaki A, Saito T, Suzuki Y, Sugano S, Kohara Y, Takeda H, Fire A,Morishita S (2008) Chromatin-Associated

Periodicity in Genetic Variation Downstream of Transcriptional Start Sites. Science. Epub,

10.1126/science.1163183.

Schmidt D, Stark R, Wilson MD, Brown GD, Odom DT (2008) Genome-scale validation of deep-sequencing

libraries. PLoS One. 3(11), e3713.

GA Publications www.illumina.com 152/4/2009

Page 16: Genome sequence analysis - bip.weizmann.ac.il fileGenome Analyzer Selected Publications Genome sequence analysis McCutcheon,J.P.,Moran,N.A.(2007)Parallelgenomicevolutionandmetabolicinterdependenceinanancient

Genome AnalyzerSelected Publications

Protein-nucleic acid interactions

Shivaswamy, S., Bhinge, A., Zhao, Y., Jones, S., Hirst, M., Iyer, V. I. (2008) Dynamic Remodeling of Individual

Nucleosomes Across a Eukaryotic Genome in Response to Transcriptional Perturbation. PLoS Biol. 6(3), e65.

doi:10.1371/journal.pbio.0060065.

Weddington N, Stuy A, Hiratani I, Ryba T, Yokochi T, Gilbert DM (2008) ReplicationDomain: a visualization tool

and comparative database for genome-wide replication timing data. BMC Bioinformatics. 9, 530.

Fields, S. (2007) Site-Seeing by Sequencing. Science. 316(5830), 1441-1442.

Mardis ER (2007) ChIP-seq: welcome to the new frontier. Nat Methods. 4, 651-657.

Massie, C. E., Mills, I. G. (2008) ChIPping away at gene regulation. EMBO Rep.. 9(4), 337-343.

Schones, D. E., Zhao, K. (2008) Genome-wide approaches to studying chromatin modifications. Nat Genetics. 9,

179-191.

Wang X, Xuan Z, Zhao X, Li Y, Zhang MQ (2008) High-resolution human core-promoter prediction with

CoreBoost_HM. Genome Res. Epub, .

Yu, H., Zhu, S., Zhou, B., Xue, H., Han, J-D. J. (2008) Inferring Causal Relationships among Different Histone

Modifications and Gene Expression. Genome Res. Epub, doi:10.1101/gr.073080.107.

Barski A, Zhao K (2009) Genomic location analysis by ChIP-Seq. J Cell Biochem. Epub, 10.1002/jcb.22077.

Espinosa JM (2008) Histone H2B ubiquitination: the cancer connection. Genes Dev. 22(20), 2743-2749.

Jiang, X., Tan, J., Li, J., Kivimäe, S., Yang, X., Zhuang, L., Lee, P. L., Chan, M. T., Stanton, L. W., Liu, E. T.,

Cheyette, B. N., Yu, Q. (2008) DACT3 is an epigenetic regulator of Wnt/beta-catenin signaling in colorectal cancer

and is a therapeutic target of histone modifications. Cancer Cell. 13(6), 529-541.

Robertson, A. G., Bilenky, M., Tam, A., Zhao, Y., Zeng, T., Thiessen, N., Cezard, T., Fejes, A. P., Wederell, E. D.,

Cullum, R., Euskirchen, G., Krzywinski, M., Birol, I., Snyder, M., Hoodless, P. A., Hirst, M., Marra, M. A., Jones, S.

J. (2008) Genome wide relationship between histone H3 lysine 4 mono- and tri-methylation and transcription factor

binding. Genome Res. Epub, doi:10.1101/gr.078519.108.

Schmid, C. D., Bucher, P. (2007) ChIP-Seq Data Reveal Nucleosome Architecture of Human Promoters. Cell.

131, 831-832.

Schones, D. E., Cui, K., Cuddapah, S., Roh,T-Y., Barski, A., Wang, Z., Wei, G., Zhao, K. (2008) Dynamic

Regulation of Nucleosome Positioning in the Human Genome. Cell. 132, 887–898.

Shechter, D., David Allis, C. (2007) A lasting marriage: Histones and DNA tie a knot that is here to stay. Nat

Milestones. S23, doi:10.1038/nrg2249.

Shema E, Tirosh I, Aylon Y, Huang J, Ye C, Moskovits N, Raver-Shapira N, Minsky N, Pirngruber J, Tarcic G,

Hublarova P, Moyal L, Gana-Weisz M, Shiloh Y, Yarden Y, Johnsen SA, Vojtesek B, Berger SL, Oren M (2008)

The histone H2B-specific ubiquitin ligase RNF20/hBRE1 acts as a putative tumor suppressor through selective

regulation of gene expression. Genes Dev. 22(19), 2664-2676..

Zheng D, Zhao K, Mehler MF (2009) Profiling RE1/REST-mediated histone modifications in the human genome.

Genome Biol. 10(1), R9.

Meng, X., Noyes, M. B., Zhu, L. J., Lawson, N. D., Wolfe, S. A. (2008) Targeted gene inactivation in zebrafish

using engineered zinc-finger nucleases. Nat Biotech. 26(6), 695-701.

Batista, P. J., Ruby, J. G., Claycomb, J. M., Chiang, R., Fahlgren, N., Kasschau, K. D., Chaves, D. A., Gu, W.,

Vasale, J. J., Duan, S., Conte, Jr., D., Luo, S., Schroth, G. P., Carrington, J. C., Bartel, D. P., Mello, C. C. (2008)

PRG-1 and 21U-RNAs Interact to Form the piRNA Complex Required for Fertility in C. elegans. Molecular Cell.

31, doi:10.1016/j.molcel.2008.06.002.

GA Publications www.illumina.com 162/4/2009

Page 17: Genome sequence analysis - bip.weizmann.ac.il fileGenome Analyzer Selected Publications Genome sequence analysis McCutcheon,J.P.,Moran,N.A.(2007)Parallelgenomicevolutionandmetabolicinterdependenceinanancient

Genome AnalyzerSelected Publications

Protein-nucleic acid interactions

Das, P. P., Bagijn,M. P., Goldstein, L. D., Woolford, J. R., Lehrbach, N. J., Sapetschnig, A., Buhecha, H. R.,

Gilchrist, M. J., Howe, K. L., Stark, R., Matthews, N., Berezikov, E., Ketting, R. F., Tavaré, S., Miska, E. A. (2008)

Piwi and piRNAs Act Upstream of an Endogenous siRNA Pathway to Suppress Tc3 Transposon Mobility in the

Caenorhabditis elegans Germline. Molecular Cell. 31(1), 79-90.

Marson, A., Levine, S.S., Cole, M. F., Frampton, G. M., Brambrink, T., Johnstone, S., Guenther, M. G., Johnston,

W. K., Wernig, M., Jamie Newman, J., Calabrese, J. M., Lucas M. Dennis, L. M., Volkert, T. L., Gupta, S., Love, J.,

Hannett, N., Sharp, P. A., Bartel, D. P., Jaenisch, R., Young, R. A. (2008) Connecting microRNA Genes to the

Core Transcriptional Regulatory Circuitry of Embryonic Stem Cells. Cell. 134(3), 521-533.

Barski, A., Cuddapah, S., Cui, K., Roh, T. Y., Schones, D. E., Wang, Z., Wei, G., Chepelev, I., Zhao, K. (2007)

High-resolution profiling of histone methylations in the human genome. Cell. 129, 823-837.

Ben-Ami O, Pencovich N, Lotem J, Levanon D, Groner Y (2008) A regulatory interplay between miR-27a and

Runx1 during megakaryopoiesis. PNAS. 106(1), 238-243.

Bourque G, Leong B, Vega VB, Chen X, Lee YL, Srinivasan KG, Chew JL, Ruan Y, Wei CL, Ng HH, Liu ET (2008)

Evolution of the mammalian transcription factor binding repertoire via transposable elements. Genome Res. 18

(11), 1752-1762.

Chen, X., Xu, H., Yuan, P., Fang, F., Huss, M., Vega, V. B., Wong, E., Orlov, Y. L., Zhang, W., Jiang, J., Loh, Y-

H., Yeo, H. C., Yeo, Z. X., Narang, V., Govindarajan, K. R., Leong, B., Shahab, A., Ruan, Y., Bourque, G., Sung,

W-K., Clarke, N. D., Wei, C-L., Ng, H-H. (2008) Integration of External Signaling Pathways with the Core

Transcriptional Network in Embryonic Stem Cells. Cell. 133, 1106–1117.

Dietz, S. C., Carroll, J. S. (2008) Interrogating the genome to understand oestrogen-receptor-mediated

transcription. Expert Rev Mol Med. 10, e10.

Eilers M, Eisenman RN (2008) Myc's broad reach. Genes Dev. 22(20), 2755-2766.

Gao N, LeLay J, Vatamaniuk MZ, Rieck S, Friedman JR, Kaestner KH (2008) Dynamic regulation of Pdx1

enhancers by Foxa1 and Foxa2 is essential for pancreas development. Genes Dev. 22, 3435-3448 .

Johnson, D. S., Mortazavi, A., Myers, R. M. and Wold, B. (2007) Genome-wide mapping of in vivo protein DNA

interactions. Science. 316(5830), 1497-1502.

Jothi, R., Cuddapah, S., Barski, A., Cui, K., Zhao, K. (2008) Genome-wide identification of in vivo protein-DNA

binding sites from ChIP-Seq data. Nucl Acids Res. 36(16), 5221-5231.

Kang J, Gemberling M, Nakamura M, Whitby FG, Handa H, Fairbrother WG, Tantin T (2009) A general

mechanism for transcription regulation by Oct1 and Oct4 in response to genotoxic and oxidative stress. Genes

Dev. 23, 208-222.

Krebs A, Frontini M, Tora L (2008) GPAT: Retrieval of genomic annotation from large genomic position datasets.

BMC Bioinformatics. 9(1), 533.

Ku M, Koche RP, Rheinbay E, Mendenhall EM, Endoh M, Mikkelsen TS, Presser A, Nusbaum C, Xie X, Chi AS,

Adli M, Kasif S, Ptaszek LM, Cowan CA, Lander ES, Koseki H, Bernstein BE (2008) Genomewide analysis of

PRC1 and PRC2 occupancy identifies two classes of bivalent domains. PLoS Genetics. 4(10), e1000242.

Lefrancois P, Euskirchen GM, Auerbach RK, Rozowsky J, Gibson T, Yellman CM, Gerstein M, Snyder M (2009)

Efficient yeast ChIP-Seq using multiplex short-read DNA sequencing. BMC Genomics. 10(1), 37.

Liao W, Schones DE, Oh J, Cui Y, Cui K, Roh TY, Zhao K, Leonard WJ (2008) Priming for T helper type 2

differentiation by interleukin 2-mediated induction of interleukin 4 receptor alpha-chain expression. Nat Immmunol.

9(11), 1288-1296.

GA Publications www.illumina.com 172/4/2009

Page 18: Genome sequence analysis - bip.weizmann.ac.il fileGenome Analyzer Selected Publications Genome sequence analysis McCutcheon,J.P.,Moran,N.A.(2007)Parallelgenomicevolutionandmetabolicinterdependenceinanancient

Genome AnalyzerSelected Publications

Protein-nucleic acid interactions

Mikkelsen, T. S., Hanna, J., Zhang, X., Ku, M., Wernig, M., Schorderet, P., Bernstein, B. E., Jaenisch, R., Lander,

E. S., Meissner, A. (2008) Dissecting direct reprogramming through integrative genomic analysis. Nature. 454

(7200), 49-55.

Nielsen R, Pedersen TA, Hagenbeek D, Moulos P, Siersbæk R, Megens E, Denissov S, Børgesen M, Francoijs

KJ, Mandrup S, Stunnenberg HG (2008) Genome-wide profiling of PPAR{gamma}:RXR and RNA polymerase II

occupancy reveals temporal activation of distinct metabolic pathways and changes in RXR dimer composition

during adipogenesis. Genes Dev. 22(21), 2953-2967.

Palomero T, Ferrando AA (2009) Genomic tools for dissecting oncogenic transcriptional networks in human

leukemia. Leukemia. Epub, doi: 10.1038/leu.2008.394.

Ribeiro de Almeida CR, Heath H, Krpic S, Dingjan GM, van Hamburg JP, Bergen I, van de Nobelen S, Sleutels F,

Grosveld F, Galjart N, Hendriks RW (2009) Critical Role for the Transcription Regulator CCCTC-Binding Factor in

the Control of Th2 Cytokine Expression. J Immunol. 182, 999-1010.

Robertson, G., Hirst, M., Bainbridge, M., Bilenky, M., Zhao, Y., Zeng, T., Euskirchen, G., Bernier, B., Varhol, R.,

Delaney, A., Thiessen, N., Griffith, O. L., He, A., Marra, M., Snyder, M., Jones, S. (2007) Genome-wide profiles of

STAT1 DNA association using chromatin immunoprecipitation and massively parallel sequencing. Nat Methods. 4,

651-657.

Wederell, E. D., Bilenky, M., Cullum, R., Thiessen, N., Dagpinar, M., Delaney, A., Varhol, R., Zhao, Y., Zeng, T.,

Bernier, B., Ingham, M., Hirst, M., Robertson, G., Marra, M. A., Jones, S., Hoodless, P. A. (2008) Global analysis

of in vivo Foxa2-binding sites in mouse adult liver using massively parallel sequencing. Nucl Acids Res. 36(14),

4549-4564.

Wold, B., Myers, R. M. (2008) Sequence census methods for functional genomics. Nat Methods. 5, 19-21.

Yaragatti M, Basilico C, Dailey L (2008) Identification of active transcriptional regulatory modules by the functional

assay of DNA from nucleosome-free regions. Genome Res. 18(6), 930-938.

Zhu J, Davidson TS, Wei G, Jankovic D, Cui K, Schones DE, Guo L, Zhao K, Shevach EM, Paul WE (2009)

Down-regulation of Gfi-1 expression by TGF-{beta} is important for differentiation of Th17 and CD103+ inducible

regulatory T cells. J Exp Med. Epub, .

GA Publications www.illumina.com 182/4/2009

Page 19: Genome sequence analysis - bip.weizmann.ac.il fileGenome Analyzer Selected Publications Genome sequence analysis McCutcheon,J.P.,Moran,N.A.(2007)Parallelgenomicevolutionandmetabolicinterdependenceinanancient

Genome AnalyzerSelected Publications

Data analysis

Data analysis

Bashir, A., Volik, S., Collins, C., Bafna, V., Raphael, B. J. (2008) Evaluation of Paired-End Sequencing Strategies

for Detection of Genome Rearrangements in Cancer. PLoS Comput Biol. 4(4), e1000051.

Coarfa, C., Milosavljevic, A. (2008) Pash 2.0: scaleable sequence anchoring for next-generation sequencing

technologies. Pac Symp Biocomput. 0, 102-13.

De Bona, F., Ossowski, S., Schneeberger, K., Rätsch, G. (2008) Optimal spliced alignments of short sequence

reads. Bioinformatics. 24(16), 174-80.

Jiang, H., Wong, W. H. (2008) SeqMap: mapping massive amount of oligonucleotides to the genome.

Bioinformatics. 24(20), 2395-2396.

Li H, Ruan J, Durbin R (2008) Mapping short DNA sequencing reads and calling variants using mapping quality

scores. Genome Res. Epub, doi:10.1101/gr.078212.108.

Lin, H., Zhang, Z., Zhang, M. Q., Ma, B., Li, M. (2008) ZOOM! Zillions Of Oligos Mapped. Bioinformatics. 24, 2431

-2437.

Malhis N, Butterfield Y, Ester M, Jones SJ (2008) Slider - Maximum use of probability information for alignment of

short sequence reads and SNP detection. Bioinformatics. Epub, .

Prüfer, K., Stenzel, U., Dannemann, M., Green, R. E., Lachmann, M., Kelso, J. (2008) PatMaN: rapid alignment of

short sequences to large databases. Bioinformatics. 24(13), 1530–1532.

Sanchez-Villeda, H., Schroeder, S., Flint-Garcia, S., Guill, K. E., Yamasaki, M., McMullen, M. D. (2008)

DNAAlignEditor: DNA alignment editor tool. BMC Bioinformatics. 9, 154.

Brudno M, Craig D, Li H, Roe B, Smith A, Tang H, Sundquist A, René Warren R (2008) Assembly and Alignment

Algorithms for Next-Gen Sequence Data: A Troubleshooting Guide. Genome Tech. 5, .

Butler, J., MacCallum, I., Kleber, M., Shlyakhter, I. A., Belmonte, M. K., Lander, E. S., Nusbaum, C., Jaffe, D. B.

(2008) ALLPATHS: De novo assembly of whole-genome shotgun microreads. Genome Res. 18(5), 810-820.

Chaisson MJ, Brinza D, Pevzner PA (2008) De novo fragment assembly with short mate-paired reads: Does the

read length matter?. Genome Res. 18(12), Epub.

Chaisson, M. J., Pevzner, P. A. (2008) Short read fragment assembly of bacterial genomes. Genome Res. 18, 324

-330.

Dohm, J. C., Lottaz, C., Borodina, T., Himmelbauer, H. (2007) SHARCGS, a fast and highly accurate short-read

assembly algorithm for de novo genomic sequencing. Genome Res. 17, 1697-1706.

Farrer RA, Kemen E, Jones JD, Studholme DJ (2008) De novo assembly of the Pseudomonas syringae pv.

syringae B728a genome using Illumina/Solexa short sequence reads. FEMS Microbiol Lett. Epub, .

Hernandez, D., François, P., Farinelli, L., Østerås, M., Schrenzel, J. (2008) De novo bacterial genome sequencing:

millions of very short reads assembled on a desktop computer. Genome Res. 18(8), 802 - 809.

Jeck, W. R., Reinhardt, J. A., Baltrus, D. A., Hickenbotham, M. T., Magrini, V., Mardis, E. R., Dangl, J. L., Jone, C.

D. (2007) Extending assembly of short DNA sequences to handle error. Bioinformatics. 23, 2942-2944.

Li, R., Li, Y., Kristiansen, K., Wang, J. (2008) SOAP: short oligonucleotide alignment program. Bioinformatics. 24

(5), 713-4.

Nagarajan, N., Read, T. D., Pop, M. (2008) Scaffolding and validation of bacterial genome assemblies using

optical restriction maps. Bioinformatics. 24(10), 1229-1235.

GA Publications www.illumina.com 192/4/2009

Page 20: Genome sequence analysis - bip.weizmann.ac.il fileGenome Analyzer Selected Publications Genome sequence analysis McCutcheon,J.P.,Moran,N.A.(2007)Parallelgenomicevolutionandmetabolicinterdependenceinanancient

Genome AnalyzerSelected Publications

Data analysis

Pop, M., Salzberg, S. L. (2008) Bioinformatics challenges of new sequencing technology. Trends Genet. 24(3),

142-149.

Reinhardt JA, Baltrus DA, Nishimura MT, Jeck WR, Jones CD, Dangl JL (2009) De novo assembly using low-

coverage short read sequence data from the rice pathogen Pseudomonas syringae pv. oryzae. Genome Res.

Epub, doi: 10.1101/gr.083311.108 .

Reinhardt JA, Baltrus DA, Nishimura MT, Jeck WR, Jones CD, Dangl JR (2008) Efficient de novo assembly of

bacterial genomes using low coverage short read sequencing. Genome Res. Epub, .

Salzberg SL, Sommer DD, Puiu D, Lee VT (2008) Gene-Boosted Assembly of a Novel Bacterial Genome from

Very Short Reads. PLoS Comput Biol. 4(9), e1000186.

Schatz, M. C., Trapnell, C., Delcher, A. L., Varshney, A. (2007) High-throughput sequence alignment using

Graphics Processing Units. BMC Bioinformatics. 8, 474.

Smith, A. D., Xuan, Z., Zhang, M. Q. (2008) Using quality scores and longer reads improves accuracy of Solexa

read mapping. BMC Bioinformatics. 9, 128.

Warren, R. L., Sutton, G. G., Jones, S. J., Holt, R. A. (2007) Assembling millions of short DNA sequences using

SSAKE. Bioinformatics. 23, 500-501.

Whiteford, N., Haslam, N., Weber, G., Prugel-Bennett, A., Essex, J. W., Roach, P. L., Bradley, M., Neylon, C.

(2005) An analysis of the feasibility of short read sequencing. Nucl Acids Res. 33(19), e171.

Zerbino, D., Birney, E. (2008) Velvet: Algorithms for De Novo Short Read Assembly Using De Bruijn Graphs.

Genome Res. 18, 821-829.

Erlich, Y., Mitra, P. P., delaBastide, M., McCombie, W. R., Hannon, G. J. (2008) Alta-Cyclic: a self-optimizing base

caller for next-generation sequencing. Nat Methods. 5(8), 679-82.

Rougemont J, Amzallag A, Iseli C, Farinelli L, Xenarios I, Naef F (2008) Probabilistic base calling of Solexa

sequencing data. BMC Bioinformatics. 9(1), 431.

Boyle, A. P., Guinney, J., Crawford, G. E., Furey, T. S. (2008) F-Seq: A Feature Density Estimator for High-

Throughput Sequence Tags. Bioinformatics. , .

Down, T. A., Rakyan, V. K., Turner, D. J., Flicek, P., Li, H., Kulesha, E., Gräf, S., Johnson, N., Herrero, J.,

Tomazou, E. M., Thorne, N. P., Bäckdahl, L., Herberth, M., Howe, K. L., Jackson, D. K., Miretti, M. M., Marioni, J.

C., Birney, E., Hubbard, T. J., Durbin, R., Tavaré, S., Beck, S. (2008) A Bayesian deconvolution strategy for

immunoprecipitation-based DNA methylome analysis. Nat Biotech. 26(7), 779-785.

Fejes, A. P., Robertson, G., Bilenky, M., Varhol, R., Bainbridge, M., Jones, S. J. M. (2008) FindPeaks 3.1: A Tool

for Identifying Areas of Enrichment from Massively Parallel Short-Read Sequencing Technology. Bioinformatics.

24(15), 1729-1730.

Feng W, Liu Y, Wu J, Nephew KP, Huang TH, Li L. (2008) A Poisson mixture model to identify changes in RNA

polymerase II binding quantity using high-throughput sequencing technology. BMC Genomics. 9(Suppl 2):S23,

doi:10.1186/1471-2164-9-S2-S23.

Hon G, Ren B, Wang W (2008) ChromaSig: A Probabilistic Approach to Finding Common Chromatin Signatures in

the Human Genome. PLoS Comput Biol. 4(10), 18927605.

Rozowsky J, Euskirchen G, Auerbach RK, Zhang ZD, Gibson T, Bjornson R, Carriero N, Snyder M, Gerstein MB

(2009) PeakSeq enables systematic scoring of ChIP-seq experiments relative to controls. Nat Biotech. 27(1), 66

-75.

Schmid CD, Sengstag T, Bucher P, Delorenzi M (2007) MADAP, a flexible clustering tool for the interpretation of

one-dimensional genome annotation data. Nucl Acids Res. 35, W201-205.

GA Publications www.illumina.com 202/4/2009

Page 21: Genome sequence analysis - bip.weizmann.ac.il fileGenome Analyzer Selected Publications Genome sequence analysis McCutcheon,J.P.,Moran,N.A.(2007)Parallelgenomicevolutionandmetabolicinterdependenceinanancient

Genome AnalyzerSelected Publications

Data analysis

Valouev, A., Johnson, D. S., Sundquist, A., Medina, C., Anton, E., Batzoglou, S., Myers, R. M., Sidow, A. (2008)

Genome-wide analysis of transcription factor binding sites based on ChIP-Seq data. Nat Methods. 5, 829 - 834.

Zhang, Z. D., Rozowsky, J., Snyder, M., Chang, J., Gerstein, M. (2008) Modeling ChIP sequencing in silico with

applications. PLoS Comput Biol. 4(8), e1000158.

Zhang. Y., Liu, T., Meyer, C. A., Eeckhoute, J., Johnson, D. S., Bernstein, B. E., Nussbaum, C., Myers, R. M.,

Brown, M., Li, W., Liu, X. S. (2008) Model-based Analysis of ChIP-Seq (MACS). Genome Biol. 9(9), R137.

Dohm, J. C., Lottaz, C., Borodina, T., Himmelbauer, H. (2008) Substantial biases in ultra-short read data sets from

high-throughput DNA sequencing. Nucl Acids Res. 36, e105.

Jiang R, Tavare S, Marjoram P (2008) Population Genetic Inference from Resequencing Data. Genetics. Epub, .

Li G, Ma L, Song C, Yang Z, Wang X, Huang H, Li Y, Li R, Zhang X, Yang H, Wang J, Wang J (2009) The YH

database: the first Asian diploid genome database. Nucl Acids Res. 37, D1025–D1028.

Nature Publishing (2008) Prepare for the deluge. Nat Biotech. 26(10), 1099.

Richter DC, Ott F, Auch AF, Schmid R, Huson DH (2008) MetaSim: a sequencing simulator for genomics and

metagenomics. PLoS One. 3(10), e3373.

Benson DA, Karsch-Mizrachi I, Lipman DJ, Ostell J, Sayers EW (2009) GenBank. Nucl Acids Res. 37, D26–D31.

Doctorow C (2008) Big data: Welcome to the petacentre. Nature. 455(7209), 16-21.

Lawson D, Arensburger P, Atkinson P, Besansky NJ, Bruggner RV, Butler R, Campbell KS, Christophides GK,

Christley S, Dialynas E, Hammond M, Hill CA, Konopinski N, Lobo NF, Maccallum RM, Madey G, Megy K, Meyer

J, Redmond S, Severson DW, Stinson EO, Topalis P, Birney E, Gelbart WM, Kafatos FC, Louis C, Collins FH.

(2009) VectorBase: a data resource for invertebrate vector genomics. Nucl Acids Res. 37, D583–D587.

Lima T, Auchincloss AH, Coudert E, Keller G, Michoud K, Rivoire C, Bulliard V, de Castro E, Lachaize C, Baratin

D, Phan I, Bougueleret L, Bairoch A (2008) HAMAP: a database of completely sequenced microbial proteome sets

and manually curated microbial protein families in UniProtKB/Swiss-Prot. Nucl Acids Res. , .

Sugawara H, Ikeo K, Fukuchi S, Gojobori T, Tateno Y (2009) DDBJ dealing with mass data produced by the

second generation sequencer. Nucl Acids Res. 37, D16 - D18.

Wheeler, D. L., Barrett, T., Benson D. A., Bryant, S. H., Canese, K., Chetvernin, V., Church, D. M., DiCuccio, M.,

Edgar, R., Federhen, S., Feolo, M., Geer, L. Y., Helmberg, W., Kapustin, Y., Khovayko, O., Landsman, D.,

Lipman, D. J., Madden, T. L., Maglott, D. R., Miller, V., Ostell, J., Pruitt, K. D., Schuler, G. D., Shumway, M.,

Sequeira, E., Sherry, S. T., Sirotkin, K., Souvorov, A., Starchenko, G., Tatusov, R. L., Tatusova, T. A., Wagner, L.,

Yaschensko, E. (2008) Database resources of the National Center for Biotechnology Information. Nucl Acids Res.

36, D13-D21.

Rakyan VK, Down TA, Thorne NP, Flicek P, Kulesha E, Gräf S, Tomazou EM, Bäckdahl L, Johnson N, Herberth

M, Howe KL, Jackson DK, Miretti MM, Fiegler H, Marioni JC, Birney E, Hubbard TJ, Carter NP, Tavaré S, Beck S

(2008) An integrated resource for genome-wide identification and analysis of human tissue-specific differentially

methylated regions (tDMRs). Genome Res. 18(9), 1518-1529.

Ahsan B, Saito TL, Hashimoto SI, Muramatsu K, Tsuda M, Sasaki A, Matsushima K, Aigaki T, Morishita S (2009)

MachiBase: a Drosophila melanogaster 5'-end mRNA transcription database. Nucl Acids Res. 37, D49 - D53.

Barrett T, Troup DB, Wilhite SE, Ledoux P, Rudnev D, Evangelista C, Kim IF, Soboleva A, Tomashevsky M,

Marshall KA, Phillippy KH, Sherman PM, Muertter RN, Edgar R (2008) NCBI GEO: archive for high-throughput

functional genomic data. Nucl Acids Res. Epub, doi:10.1093/nar/gkn764.

GA Publications www.illumina.com 212/4/2009

Page 22: Genome sequence analysis - bip.weizmann.ac.il fileGenome Analyzer Selected Publications Genome sequence analysis McCutcheon,J.P.,Moran,N.A.(2007)Parallelgenomicevolutionandmetabolicinterdependenceinanancient

Genome AnalyzerSelected Publications

Data analysis

Galante, P. A. F., Trimarchi, J., Cepko, C. L., de Souza, S. J., Ohno-Machado, L., Kuo, W. P. (2007) Automatic

correspondence of tags and genes (ACTG): a tool for the analysis of SAGE, MPSS and SBS data. Bioinformatics.

23(7), 903-905.

Klebanov, L. B., Yakovlev, A. Y. (2008) A nitty-grritty aspect of correlation and network inference from gene

expression data. Biol Direct. 3(1), 35.

Parkinson H, Kapushesky M, Kolesnikov N, Rustici G, Shojatalab M, Abeygunawardena N, Berube H, Dylag M,

Emam I, Farne A, Holloway E, Lukk M, Malone J, Mani R, Pilicheva E, Rayner TF, Rezwan F, Sharma A, Williams

E, Bradley XZ, Adamusiak T, Brandizi M, Burdett T, Coulson R, Krestyaninova M, Kurnosov P, Maguire E, Neogi

SG, Rocca-Serra P, Sansone S, Sklyar N, Zhao M, Sarkans U, Brazma A (2009) ArrayExpress update--from an

archive of functional genomics experiments to the atlas of gene expression. Nucl Acids Res. 37, D868 - D872.

Friedländer, M. R., Chen, W., Adamidi, C., Maaskola, J., Einspanier, R., Knespel, S., Rajewsky, N. (2008)

Discovering microRNAs from deep sequencing data using miRDeep. Nat Biotech. 26, 407-415.

Montgomery, K. T., Iartchouck, O., Li, L., Perera, A., Yassin, Y., Tamburino, A., Loomis, S., Kucherlapati, R.

(2008) Mutation detection using automated fluorescence-based sequencing. Curr Protoc Hum Genet. 57, 7.9.1

-7.9.31.

Hajirasouliha, I., Hormozdiari, F., Sahinalp, S. C., Birol, I. (2008) Optimal pooling for genome re-sequencing with

ultra-high-throughput short-read technologies. Bioinformatics. 24, 132-140.

Albert I, Wachi S, Jiang C, Pugh BF (2008) GeneTrack – a genomic data processing and visualization framework.

Bioinformatics. 24(10), 1305-1306.

Chan CS, Song JS (2008) CCCTC-binding factor confines the distal action of estrogen receptor. Cancer Res. 68

(21), 9041-9049.

Hubbard TJP, Aken BL, Ayling S, Ballester B, Beal K, Bragin E, Brent S, Chen Y, Clapham P, Clarke L, Coates G,

Fairley S, Fitzgerald S, Fernandez-Banet J, Gordon L, Graf S, Haider S, Hammond M, Holland R, Howe K,

Jenkinson A, Johnson N, Kahari A, Keefe D, Keenan S, Kinsella R, Kokocinski F, Kulesha E, Lawson D, Longden

I, Megy K, Meidl P, Overduin B, Parker A, Pritchard B, Rios D, Schuster M, Slater G, Smedley D, Spooner W,

Spudich G, Trevanion S, Vilella A, Vogel J, White S, Wilder S, Zadissa A, Birney E, Cunningham F, Curwen V,

Durbin R, Fernandez-Suarez XM, Herrero J, Kasprzyk A, Proctor G, Smith J, Searle S, Flicek P (2008) Ensembl

2009. Nucl Acids Res. 37, D690 - D697.

Ji H, Jiang H, Ma W, Johnson DS, Myers RM, Wong WH (2008) An integrated software system for analyzing

ChIP-chip and ChIP-seq data. Nat Biotech. 26(11), 1293-1300.

Kharchenko PV, Tolstorukov MY, Park PJ (2008) Design and analysis of ChIP-seq experiments for DNA-binding

proteins. Nat Biotech. Epub, .

Nix DA, Courdy SJ, Boucher KM (2008) Empirical methods for controlling false positives and estimating

confidence in chIP-seq peaks. BMC Bioinformatics. 9(1), 523.

Whitington T, Perkins AC, Bailey TL (2008) High-throughput chromatin information enables accurate tissue-

specific prediction of transcription factor binding sites. Nucl Acids Res. Epub, .

Won KJ, Chepelev I, Ren B, Wang W (2008) Prediction of regulatory elements in mammalian genomes using

chromatin signatures. BMC Bioinformatics. 9(1), 547.

Xie X, Rigor P, Baldi P (2009) MotifMap: a human genome-wide map of candidate regulatory motif sites.

Bioinformatics. 25(2), 167-174.

Zhang Y, Shin H, Song JS, Lei Y, Liu XS (2008) Identifying Positioned Nucleosomes with Epigenetic Marks in

Human from ChIP-Seq. BMC Genomics. 9(1), 537.

GA Publications www.illumina.com 222/4/2009

Page 23: Genome sequence analysis - bip.weizmann.ac.il fileGenome Analyzer Selected Publications Genome sequence analysis McCutcheon,J.P.,Moran,N.A.(2007)Parallelgenomicevolutionandmetabolicinterdependenceinanancient

Genome AnalyzerSelected Publications

Data analysis

Dolan, P. C., Denver, D. R. (2008) TileQC: a system for tile-based quality control of Solexa data. BMC

Bioinformatics. 9: 250, doi:10.1186/1471-2105-9-250.

Moretti S, Wilm A, Higgins DG, Xenarios I, Notredame C (2008) R-Coffee: a web server for accurately aligning

noncoding RNA sequences. Nucl Acids Res. 36, W10-3.

Anon (2008) Byte-ing off more than you can chew. Nat Methods. 5(7), 577.

Cochrane G, Akhtar R, Bonfield J, Bower L, Demiralp F, Faruque N, Gibson R, Hoad G, Hubbard T, Hunter C,

Jang M, Juhos S, Leinonen R, Leonard S, Lin Q, Lopez R, Lorenc D, McWilliam H, Mukherjee G, Plaister S,

Radhakrishnan R, Robinson S, Sobhany S, Hoopen PT, Vaughan R, Zalunin V, Birney E (2008) Petabyte-scale

innovations at the European Nucleotide Archive. Nucl Acids Res. Epub, doi:10.1093/nar/gkn765.

Wang LY, Abyzov A, Korbel JO, Snyder M, Gerstein M (2008) MSB: A mean-shift-based approach for the analysis

of structural variation in the genome. Genome Res. Epub, doi/10.1101/gr.080069.108.

Durinck S, Bullard J, Spellman PT, Dudoit S (2009) GenomeGraphs: integrated genomic data visualization with R.

BMC Bioinformatics. 10, 2.

Huang, W., Marth, G. T. (2008) EagleView: a genome assembly viewer for next-generation sequencing

technologies. Genome Res. Epub, DOI: 10.1101/gr.076067.108.

GA Publications www.illumina.com 232/4/2009

Page 24: Genome sequence analysis - bip.weizmann.ac.il fileGenome Analyzer Selected Publications Genome sequence analysis McCutcheon,J.P.,Moran,N.A.(2007)Parallelgenomicevolutionandmetabolicinterdependenceinanancient

Genome AnalyzerSelected Publications

Sequencing technology

Sequencing technology

Fedurco, M., Romieu, A., Williams, S., Lawrence, I., Turcatti, G. (2006) BTA, a novel reagent for DNA attachment

on glass and efficient generation of solid-phase amplified DNA colonies. Nucl Acids Res. 34(3), e22.

Turcatti, G., Romieu, A., Fedurco, M., Tairi, A-P. (2008) A new class of cleavable fluorescent nucleotides:

synthesis and optimization as reversible terminators for DNA sequencing by synthesis. Nucl Acids Res. 36(4),

e25.

Bonetta, L. (2006) Genome sequencing in the fast lane. Nat Methods. 3(2), 142-147.

Check E (2007) Faster still and faster. Nature. 448(7149), 10-11.

Chi, K. R. (2008) The year of sequencing. Nat Methods. 5, 11-14.

Coombs A (2008) The sequencing shakeup. Nat Biotech. 26(10), 1109-1112.

Coppée, J. Y. (2008) Do DNA microarrays have their future behind them?. Microbes Infect. Epub, doi:10.1016/j.

micinf.2008.07.003 .

Gresham, D., Kruglyak, L. (2008) Rise of the Machines. PLOS Genetics. 4(8), e1000134.

Gupta, P. K. (2008) Single-molecule DNA sequencing technologies for future genomics research. Trends Biotech.

Epub, doi:10.1016/j.tibtech.2008.07.003.

Hert DG, Fredlake CP, Barron AE (2008) Advantages and limitations of next-generation sequencing technologies:

A comparison of electrophoresis and non-electrophoresis methods. Electrophoresis. 29(23), 4618-4626.

Holt, R. A., Jones, S. J. M. (2008) The new paradigm of flow cell sequencing. Genome Res. 18, 839-846.

Kahvejian A, Quackenbush J, Thompson JF (2008) What would you do if you could sequence everything?. Nat

Biotech. 26(10), 1125-1133.

Mardis, E. R. (2008) The impact of next-generation sequencing technology on genetics. Trends Genet. 24(3), 133

-141.

Mardis, E. R. (2008) Next-Generation DNA Sequencing Methods. Annu Rev Genomics Hum Genet. 9, 387-402.

Metzker ML (2008) Sequencing technologies — the next generation (poster). Nat Rev Genetics. 9(11), Epub.

Metzker, M. L. (2005) Emerging technologies in DNA sequencing. Genome Res. 15, 1767–1776.

ML Metzker (2008) Advances in Next-Generation DMA Sequencing Technologies. Comparative Genomics: Basic

and Applied Research. Brown J (ed.), p13-27.

Morozova, O., Marra, M. A. (2008) Applications of next-generation sequencing technologies in functional

genomics. Genomics. Epub, doi:10.1016/j.ygeno.2008.07.001 .

Nature Publishing (2008) Method of the year - editorial. Nat Methods. 5(1), 1.

Nature Publishing (2008) Next-generation genome. Nat Methods. 5(12), 989.

Pettersson E, Lundeberg J, Ahmadian A (2008) Generations of sequencing technologies. Genomics. Epub,

doi:10.1016/j.ygeno.2008.10.003 .

Pühler, A., Selbitschka, W. (2008) Genome research in the light of ultrafast sequencing technologies. J Biotech.

Epub, doi:10.1016/j.jbiotec.2008.06.004.

Rusk N, Kiermer V (2008) Primer: Sequencing--the next generation. Nat Methods. 5(1), 15.

Schloss JA (2008) How to get genomes at one ten-thousandth the cost. Nat Biotech. 26(10), 1113-1115.

GA Publications www.illumina.com 242/4/2009

Page 25: Genome sequence analysis - bip.weizmann.ac.il fileGenome Analyzer Selected Publications Genome sequence analysis McCutcheon,J.P.,Moran,N.A.(2007)Parallelgenomicevolutionandmetabolicinterdependenceinanancient

Genome AnalyzerSelected Publications

Sequencing technology

Shaffer, C. (2007) Next-generation sequencing outpaces expectations. Nat Biotech. 25(2), 149.

Shendure, J., Ji, H. (2008) Next-generation DNA sequencing. Nat Biotech. 26(10), 1135-1145.

Strausberg RL, Levy S, Rogers YH (2008) Emerging DNA sequencing technologies for human genomic medicine.

Drug Discov Today. 13(13-14), 569-77.

ten Bosch JR, Grody WW (2008) Keeping up with the next generation: massively parallel sequencing in clinical

diagnostics. J Mol Diagn. 10(6), 484-492.

von Bubnoff, A. (2008) Next-generation sequencing: the race is on. Cell. 132(5), 721-723.

Yosef N, Käll L (2008) Reading a DNA Sequence - From Sequencing

to Assembling. Genome Biol. 9(11), 326.

White III, R. A, Blainey, P., Fan, H. C., Quake, S. R. (2008) Digital PCR provides sensitive and absolute

calibration for high throughput sequencing. ?. ?, ?.

Garber K (2008) Fixing the front end. Nat Biotech. 26(10), 1101-4.

Sorber K, Chiu C, Webster D, Dimon M, Ruby JG, Hekele A, DeRisi JL (2008) The long march: a sample

preparation technique that enhances contig length and coverage by high-throughput short-read sequencing. PLoS

One. 3(10), e3495.

GA Publications www.illumina.com 252/4/2009