tailieunhanh - Báo cáo y học: "Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in middle eastern families"

Tuyển tập các báo cáo nghiên cứu về y học được đăng trên tạp chí y học Wertheim cung cấp cho các bạn kiến thức về ngành y đề tài: Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in middle eastern families. | w Genome Biology Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in middle eastern families Brownstein et al. Brownstein et al. Genome Biology 2011 12 R89 http 2011 12 9 R89 14 September 2011 2 BioMed Central Brownstein et al. Genome Biology 2011 12 R89 http 2011 12 9 R89 Genome Biology RESEARCH Open Access Targeted genomie capture and massively parallel sequencing to identify genes for hereditary hearing loss in middle eastern families 7 i- . 1 f 1 f 2 3 3 2 Zippora Brownstein f Lilach M Friedman f Hashem Shahin Varda Oron-Karni Nitzan Kol Amal Abu Rayyan 111 Pimrit I o 4 Qh lox 5 6 Rrx Hm r i7 R0II2 F mx iHr ix 8 QHmH f 1 8 Thomas Paizefall Doiit Lev Stavit Shalev Moshe Fiydman Bella Davidov Moidechai Siionat 9 10 12 12 Michele Rahile Sari Lieberman Ephrat Levy-Lahad Ming K Lee Noam Shomron Mary-Claire King Tom Walsh12 Moien Kanaan2 and Karen B Avraham1 3 Abstract Background Identification of genes responsible for medically important traits is a major challenge in human genetics. Due to the genetic heterogeneity of hearing loss targeted DNA capture and massively parallel sequencing are ideal tools to address this challenge. Our subjects for genome analysis are Israeli Jewish and Palestinian Arab families with hearing loss that varies in mode of inheritance and severity. Results A custom MB design of cRNA oligonucleotides was constructed containing 246 genes responsible for either human or mouse deafness. Paired-end libraries were prepared from 11 probands and bar-coded multiplexed samples were sequenced to high depth of coverage. Rare single base pair and indel variants were identified by filtering sequence reads against polymorphisms in dbSNP132 and the 1000 Genomes Project. We identified deleterious mutations in CDH23 MYO15A TECTA TMC1 and WFS1. Critical mutations of the probands cosegregated with hearing loss. Screening of additional families in a .