tailieunhanh - Báo cáo y học: "The promise and reality of personal genomics"

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 promise and reality of personal genomics. | X Genome Biology Minireview The promise and reality of personal genomics Bryndis Yngvadottir Daniel G MacArthur Hanjun Jin and Chris Tyler-Smith Address The Wellcome Trust Sanger Institute Wellcome Trust Genome Campus Hinxton CB10 1SA UK. Correspondence Chris Tyler-Smith. Email cts@ Abstract The publication of the highest-quality and best-annotated personal genome yet tells us much about sequencing technology something about genetic ancestry but still little of medical relevance. Which country has published the largest per-capita number of personal genomes The United States the United Kingdom Actually it is Korea. A recent article in Nature by Kim et al. 1 presents the genome sequence of a Korean male AK1 - the seventh published sequence of an individual human genome and the second from Korea. The rapid progress in personal genome sequencing is possible because so-called next-generation sequencing technology has decreased costs by orders of magnitude and increased throughput. But those advantages come at a price short error-prone reads derived from single molecules that have to be stitched back together to make a best-guess at the starting sequence. We are still at the stage of working out how to apply the available technologies to coax out biological information the goal of a US 1 000 genome providing life-changing personal medical insights is still some way off. Genome sequencing is still an imprecise science The first aim of a genome-sequencing project is to assemble around 6 billion As Cs Gs and Ts comprising the diploid genome of the individual in the right order. This is a challenge both of scale and because of sequence complexities such as repeated elements. By a series of frankly heroic measures Kim et al. 1 have succeeded in generating a sequence that is likely to be substantially more complete and accurate than any other individual human genome derived so far using the new sequencing technology. Nonetheless the effort invested in producing .

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