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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 exome factor. | Stower Genome Biology 2011 12 407 http genomebiology.eom 2011 12 9 407 w Genome Biology EDITORIAL L_ The exome factor Hannah Stower Abstract Exome sequencing is rapidly expanding both as a technique and in its biological applications. The decision to launch a special issue of Genome Biology coincided with my first American Society of Human Genetics meeting in Washington DC 1 exciting work using exome capture sequencing had been presented on melanoma somatic mutations in induced pluripotent stem cells and numerous single gene disorders. The technique strongly enriches a sequencing sample for exons by using DNA capture probes targeted only to the portion of the genome constituting the exome. In addition at this time I met and discussed exome sequencing with one of the leaders in the field Jay Shendure and we are delighted that he agreed to be the Guest Editor for this issue. There was no doubt for me that exome sequencing was flourishing and so it is in this September issue that we present articles with that special exome factor . Choosing to publish a special issue on a field that is relatively speaking in its infancy necessitates many discussions about how best to make use of the technology and analyze the data and these discussions have led us to present some guidelines and new approaches to exome capture sequencing. In a bake-off between different exome capture techniques Janna Saarela and colleagues 2 perform a systematic comparison of the two solutionbased capture kits commercially available from Agilent and Roche-Nimblegen. The results show that researchers should be confident with the data garnered by either approach and we hope that the clarity of this study will make it a useful reference particularly to those just starting out. To provide further coverage and discussion of best methodological practice we commissioned Shamil Sunyaev and colleagues 3 to review the computational and statistical approaches necessary for hannah.stower@genomebiology.com
