原创力文档targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in middle eastern families目标基因捕获和大规模并行测序识别基因遗传性听力损失在中东的家庭.pdfVIP
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targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in middle eastern families目标基因捕获和大规模并行测序识别基因遗传性听力损失在中东的家庭
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
/2011/12/9/R89 (14 September 2011)
Brownstein et al. Genome Biology 2011, 12:R89
/2011/12/9/R89
RESEARCH Open Access
Targeted genomic capture and massively parallel
sequencing to identify genes for hereditary
hearing loss in middle eastern families
1† 1† 2 3 3 2
Zippora Brownstein , Lilach M Friedman , Hashem Shahin , Varda Oron-Karni , Nitzan Kol , Amal Abu Rayyan ,
1 4 5,6 7 8 1,8
Thomas Parzefall , Dorit Lev , Stavit Shalev , Moshe Frydman , Bella Davidov , Mordechai Shohat ,
Michele Rahile9, Sari Lieberman10, Ephrat Levy-Lahad10,11, Ming K Lee12, Noam Shomron3,13, Mary-Claire King12,
Tom Walsh 12, 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 1.46 MB design of cRNA oligonucleotides was constructed containing 246 genes responsible for
either human or mouse deafness. Paired-end libraries were prepared from 1
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