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Báo cáo y học: "Anticipating the $1,000 genome"

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: Anticipating the $1,000 genome. | Opinion Anticipating the 1 000 genome Elaine R Mardis Address Genome Sequencing Center Washington University School of Medicine 4444 Forest Park Boulevard St. Louis MO 63108 USA. Email emardis@wustl.edu Published 27 July 2006 Genome Biology 2006 7 112 doi 10.1186 gb-2006-7-7-112 The electronic version of this article is the complete one and can be found online at http genomebiology.com 2005 7 7 112 2006 BioMed Central Ltd Abstract A new generation of DNA-sequencing platforms will become commercially available over the next few years. These instruments will enable re-sequencing of human genomes at a previously unimagined throughput and low cost. Here I examine why the 1 000 human genome is an important goal for research and clinical diagnostics and what will be required to achieve it. In April 2003 50 years after Watson and Crick first described the chemical structure of DNA 1 the DNA sequence that makes up the human genome was proclaimed essentially complete 2 . Following on from this in October 2005 the project of the HapMap consortium to identify the locations of one million common singlenucleotide polymorphisms SNPs in the context of this reference human genome sequence were completed 3 . Accomplishing these two genomic milestones required the development testing and implementation of technology platforms that could produce data at previously unprecedented throughputs as well as of the bioinformatics tools and computational capabilities to analyze the resulting data and to interpret it in meaningful ways. It is this critical interplay of technology and bioinformatics that will usher in the next era of genome sequencing technology commonly referred to as the 1 000 genome on the basis of its targeted price per genome in US dollars today we find ourselves poised at the brink of this era. In this paradigm the cost of determining an individual genome sequence would fall to a price of around 1 000 placing it firmly in the realm of advanced clinical diagnostic tests. .