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ITMO Genetics, Genomics and Bioinformatics

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ITMO Genetics, Genomics and Bioinformatics. Personalized medicine in the Next Generation Sequencing (NGS) era: Scientific and Medical challenges, Ethical considerations September 24, 2013 / Bruxelles Thierry Frebourg. CEA. CHRU. CNRS. CPU. INRA. INRIA. INSERM. INSTITUT PASTEUR. - PowerPoint PPT Presentation

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ITMO Genetics, Genomics and BioinformaticsPersonalized medicine in the Next Generation Sequencing (NGS) era: Scientific and Medical challenges, Ethical considerations

September 24, 2013 / Bruxelles

Thierry Frebourg

CEACHRUCNRSCPUINRAINRIAINSERMINSTITUT PASTEURIRD

ARIISEFSINERISINSTITUT CURIEINSTITUT MINES-TELECOMUNICANCER

IRBAIRSN

CIRAD

FONDATION MERIEUX

11985 PCR (Mullis)

2004-Genomic era

2004End of sequencing of the human genome2007Whole genome analyses: CGH

1865 1975Pre-molecular era 1975 2004Molecular era 1865 Mendel

1953 DNAStructure Watson andCrick1959 Trisomy 21 LejeuneTurpin Jacobs

A SHORT HISTORY OF HUMAN GENETICS

1975 Southern 1993 Automated sequencers

Beginning of sequencing of the human genome

Sanger sequencing

2009New generation Sequencing(NGS)

THE NGS REVOLUTION : FROM TARGETED TO GLOBAL SEQUENCING

Human exome sequencing 160.000 exons = 30 Mb (30 106) 1.2% of the human genome 3 Gb 100x 3000 Mb = 3 Gb 50 Gb (50. 109 pb) sequenced within 7 days Sanger sequencing on amplicons : 500 bp1000 Kb (106 bp) sequenced within 7 daysX 100 000

The human genome : 3 Gb (3.109 )3De plus, ce labo bnficie au quotidien dune trs forte interaction avec linserm U614 dirige par TF, unit spcialise ds le dvt de nv mthodes dexploration du gnome.NGS : BIOINFORMATICS EXPERTISE

Quality - Alignment - Annotation - Filtration - Comparison - Storage

pb -KbGbX 1 000 000

Per exome 34 Mb : 1.2% of the total genome :

17000 Single Nucleotide Variations (SNV)50% non synonymous500 rare (