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Tuyển tập các báo cáo nghiên cứu về y học được đăng trên tạp chí y học Minireview cung cấp cho các bạn kiến thức về ngành y đề tài: Evaluation of next generation sequencing platforms for population targeted sequencing studies. | Open Access Evaluation of next generation sequencing platforms for population targeted sequencing studies Olivier HarismendyH Pauline C NgHt Robert L Strausberg Xiaoyun Wang Timothy B Stockwelb Karen Y Beeson Nicholas J Schork Sarah S Murray Eric J Topol Samuel Levy and Kelly A Frazer Addresses Scripps Genomic Medicine - Scripps Translational Science Institute - The Scripps Research Institute N. Torrey Pines Court La Jolla CA 92037 USA. The J Craig Venter Institute Medical Center Drive Rockville MD 20850 USA. H These authors contributed equally to this work. Correspondence Samuel Levy. Email slevy@jcvi.org. Kelly A Frazer. Email kfrazer@scripps.edu Published 27 March 2009 Genome Biology 2009 10 R32 doi 10.1186 gb-2009- 10-3-r32 The electronic version of this article is the complete one and can be found online at http genomebiology.com 2009 10 3 R32 Received 14 December 2008 Revised 23 February 2009 Accepted 27 March 2009 2009 Harismendy et al. licensee BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License http creativecommons.org licenses by 2.0 which permits unrestricted use distribution and reproduction in any medium provided the original work is properly cited. Abstract Background Next generation sequencing NGS platforms are currently being utilized for targeted sequencing of candidate genes or genomic intervals to perform sequence-based association studies. To evaluate these platforms for this application we analyzed human sequence generated by the Roche 454 Illumina GA and the ABI SOLiD technologies for the same 260 kb in four individuals. Results Local sequence characteristics contribute to systematic variability in sequence coverage 100-fold difference in per-base coverage resulting in patterns for each NGS technology that are highly correlated between samples. A comparison of the base calls to 88 kb of overlapping ABI 3730xL Sanger sequence generated for the same samples showed that the .
