tailieunhanh - Báo cáo y học: "The first Irish genome and ways of improving sequence accuracy"

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: The first Irish genome and ways of improving sequence accuracy. | Ju et al. Genome Biology 2010 11 132 http 2010 11 9 132 w Genome Biology RESEARCH HIGHLIGHT L__ The first Irish genome and ways of improving sequence accuracy Young Seok Ju1 Yun Joo Yoo1 2 Jong-Il Kim1 3 and Jeong-Sun Seo1 3 See research article http 2010 11 9 R91 Abstract Whole-genome sequencing of an Irish person reveals hundreds of thousands of novel genomic variants. Imputation using previous known information improves the accuracy of low-read-depth sequencing. In the past 10 years numerous human genomic variants have been discovered and catalogued mostly through the efforts of the International HapMap project and personal genome studies 1 . Information on human genomic variants may serve as a valuable resource for developing personalized medicine because some of these variants could potentially predispose humans to complex diseases. The 2009 version version 130 of the dbSNP database included approximately million single nucleotide polymorphisms SNPs and small insertions and deletions indels . However many issues need to be addressed before personalized medicine becomes a reality. These include an understanding of the kind and number of variants that exist in the entire human genome the number of populations and individuals needed to detect most if not all human genomic variants with efficiency and accuracy the frequency of common and rare variants in an individual genome and finally the number of variants that influence human diseases. Recent advancements in next-generation sequencing technology have dramatically decreased both the cost and the time required for sequencing 1 . Consequently in the past few years sequencing of individual genomes personal genomes has gained in popularity. Currently whole-genome sequencing is thought to be the best way to detect human genomic variations because it could Correspondence jeongsun@ Genomic Medicine Institute Medical Research Center Seoul .

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