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: Enrichment of sequencing targets from the human. | Method Open Access Enrichment of sequencing targets from the human genome by solution hybridization Ryan Tewhey Masakazu NakanoH Xiaoyun Wang Carlos Pabon-Pena Barbara Novak Angelica Giuffre Eric Lin Scott Happe Doug N Roberts Emily M LeProust Eric J Topol Olivier Harismendy and Kelly A Frazer Addresses Scripps Genomic Medicine Scripps Translational Science Institute The Scripps Research Institute 3344 N. Torrey Pines Court La Jolla CA 92037 USA. Division of Biological Sciences University of California San Diego 9500 Gilman Dr. La Jolla CA 92093 USA. Agilent Technologies Inc. 5301 Stevens Creek Blvd. Santa Clara CA 95051 USA. Current address Moores UCSD Cancer Center 3855 Health Sciences Drive 0901 La Jolla CA 92093-0901 USA. H These authors contributed equally to this work. Correspondence Olivier Harismendy. Email oharismendy@. Kelly A Frazer. Email kafrazer@ Published 16 October 2009 Genome Biology 2009 10 R116 doi gb-2009-10-10-r116 The electronic version of this article is the complete one and can be found online at http 2009 10 10 R116 Received 17 June 2009 Revised 5 September 2009 Accepted 16 October 2009 2009 Tewhey licensee BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License http licenses by which permits unrestricted use distribution and reproduction in any medium provided the original work is properly cited. Abstract To exploit fully the potential of current sequencing technologies for population-based studies one must enrich for loci from the human genome. Here we evaluate the hybridization-based approach by using oligonucleotide capture probes in solution to enrich for approximately Mb of sequence target. We demonstrate that the tiling probe frequency is important for generating sequence data with high uniform coverage of targets. We obtained 93 sensitivity to detect SNPs with a calling accuracy greater than 99 . .
