Exome sequencing (Ekzom Dizileme)

Hemofili gen terapi genetik imprinting

EKZOM DZLEME(EXOME SEQUENCING)Hazrlayan - Sunan: Kbra SOLAKATATRK NVERSTES-MOLEKLER BYOLOJ VE GENETK BLM11050500807.05.2015

O TEST SONRASI HEKMLER 814 HASTAYI TEKRAR DEERLENDRD

Calvin Lapidus

Uyumlu bir ocuk, her eyi sever. zellikle insanlar ok seviyor. Sarlmay seviyor. Ablasn ok seviyor.

YryemiyorKonuamyor Zihinsel Engelli

California niversitesinin Los Angeles Kampsndeki Klinik Genetik Merkezi

Whole-Exome Sequencing

Test, genleri teker teker deil, tm genomun protein reten paralarn ayn anda incelemeyi salyor.

Target-enrichment strategies

Hedef Zenginletirme Yntemleri

DNA Miktar ve Maliyet

Byk rnekten Kk DNA enzymatic technique

Hibrid Yakalamatime-saving and cost-effective

In-solution capture

Ekzom dizileme ile vakalarn %25ine pozitif ve doru tan konuldu. Bu oran dier genetik testlerden ok yksekti.

homozigotluk haritalamas yaparak aday blgelerini belirlemeye yardmc

Son yllarda gelien ekzom dizileme yntemi, tek bir deney yaplarak, hem homozigot blgelerin, hem de aday varyasyonlarn bulunmasn mmkn klar. Bu balamda, ekzom dizileme verilerini kullanarak homozigotluk haritalamas yapan bir program gelitirdik. Bu program, pek ok otozomal resesif hastalk iin denendi ve homozigot blgeler baarl bir ekilde tesbit edildi. nanyoruz ki ekzom dizilemesi ile resesif hastalklarn genetik kkenini alan aratrmaclar gelitirdiimiz yntem sayesinde homozigotluk haritalamas yaparak aday blgelerini kolaylkla belirleyebilecekler ve bu sayede bu almalar ivmelenmi olacaktr. Gelitirdiimiz yntemin, ekzom dizilemesi ile resesif hastalklarn genetik kkenini alan aratrmaclar iin homozigotluk haritalamas yaparak aday blgelerini belirlemeye yardmc olacan ve bu sayede almalarn hzlandracan mit ediyoruz.18

Ortalama genomdaki her lokasyon 100 kere gzlemleniyor. Bylece anneden alnan DNAnn 50 farkl rneini gryoruz. Babadan alnan 50 rnei de gryoruz. Bunlar egzomun temel pozisyonunda ya da genomun st katmannda gzlemliyoruz. Bu ok yksek kalite anlamna geliyor.

Calvinin semptomlar olas 5 bin genetik hastalktanPitt-Hopkins Sendorumuyla rtm.Calvin became the first child at UCLA to get a whole-exome genetic test at UCLA, in 2012.

Pitt-Hopkins Syndrome, bir genetik hastalktr ve tm dnyada sadece 500 ocuk etkilenmiti

18. Kromozomda tek bir mutasyonGenelde ocuklar yardm almadan konumay renemezler

Audrey Lapidus ac verici olsa Calvinin hastalnn ne olduunu bilmenin kendilerini rahatlattn sylyor: Tehis benim gelecee hazrlanmama yardmc oldu. Bizi neyin beklediini biliyoruz. Pitt Hopkins Aratrma Vakf

Tehisten bu yana daha nceden doktorlarn tehis koyamad 814 hasta (2012-2014) bu yntemle incelenmi. Calvininki gibi en karmak vakalarn yzde 41i kesin tehis edilmi (the Journal of the American Medical Association).20 sene nce bu rakam yzde 5ti.

TEEKKR EDERM

Exome sequencing (Ekzom Dizileme)

Text of Exome sequencing (Ekzom Dizileme)

Whole Exome and Whole Genome Sequencing · PDF file Whole exome sequencing (WES) is defined as targeted sequencing of the subset of the human genome that contains functionally important

Shriram belge (exome sequencing) 27 2003

Allelic Imbalance for Pre-capture Whole Exome Sequencing

Whole-Exome Sequencing Identifies Rare and Low-Frequency ...dlin.web.unc.edu/files/2015/02/whole-exome- ARTICLE Whole-Exome Sequencing Identiﬁes Rare and Low-Frequency Coding Variants

Whole exome sequencing implicates eye development, the ... · PDF file the economical next-generation sequencing technique of whole exome sequencing (WES), the current costs and bioinformatics

Whole Exome and Whole Genome Sequencing - OXHP Whole Genome Sequencing (WGS) and Whole Exome Sequencing (WES) are increasingly clinically available due to significant advances in DNA

Whole Exome Sequencing for Variant Discovery and Prioritisation

Exome sequencing and complex disease :

Exome Sequencing Links Corticospinal Motor ... Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders Gaia Novarino, 1*† Ali G. Fenstermaker,

Whitepaper Exome Sequencing and

Whole exome sequencing(wes)

Using whole exome sequencing and bacterial pathogen

Exome sequencing in amyotrophic lateral sclerosis ... sequencing in amyotrophic lateral sclerosis identifies risk genes ... John P. Carulli, 8Aaron G. Day ... Exome sequencing in amyotrophic

Whole-Exome Sequencing: Technical Details

Exome sequencing in amyotrophic lateral sclerosis identifies risk

Whole exome sequencing reveals novel EYS mutations in Chinese · PDF file 2019. 2. 1. · With the rapid development of next-generation sequencing technology, whole exome sequencing

Supplementary Table 1: Coverage depth of Exome-Seq, RNA ... Supplementary Table 1: Coverage depth of Exome-Seq, RNA-Seq, and Whole Genome Sequencing !! Exome! Sequencing! RNA1Seq!

Letter Whole exome sequencing detects variants of genes

Exome and genome sequencing in clinical practice

Clinical exome sequencing facilitates the understanding of

Clinical Exome Sequencing for the Diagnosis of

NHLBI Exome Sequencing Program: Myocardial Infarction

Genomic microarray and whole exome sequencing · PDF file Genomic microarray and whole exome sequencing ... Chromosomal Microarray and Whole Exome Sequencing in Children with Intellectual

Next Generation Mendelian Genetics by Exome Sequencing

Whole-exome sequencing of endometriosis identifies frequent

Genome & Exome Sequencing Read Mapping

Clinical exome sequencing for fetuses with ultrasound ... ... RESEARCH Open Access Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder

Exome sequencing identifies recurrent somatic RAC1 ... · PDF file1 Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma Michael Krauthammer1, Yong Kong2,3, Byung

Whole Exome Sequencing in genetic diseases

Estimating statistical signiﬁcance of exome sequencing ... · PDF fileEstimating statistical signiﬁcance of exome sequencing data for rare mendelian disorders using population-wide