tailieunhanh - Báo cáo y học: "Whole exome capture in solution with 3 Gbp of data"

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: Whole exome capture in solution with 3 Gbp of data. | Bainbridge et al. Genome Biology 2010 11 R62 http 2010 11 6 R62 w Genome Biology METHOD _ Open Access Whole exome capture in solution with 3 Gbp of data Matthew N Bainbridge 1 2 Min Wang1 Daniel L Burgess3 Christie Kovar1 Matthew J Rodesch3 Mark D Ascenzo3 Jacob Kitzman3 Yuan-Qing Wu1 Irene Newsham1 Todd A Richmond3 Jeffrey A Jeddeloh3 Donna Muzny1 Thomas J Albert3 and Richard A Gibbs 1 Abstract We have developed a solution-based method for targeted DNA capture-sequencing that is directed to the complete human exome. Using this approach allows the discovery of greater than 95 of all expected heterozygous singe base variants requires as little as 3 Gbp of raw sequence data and constitutes an effective tool for identifying rare coding alleles in large scale genomic studies. Background DNA sequence capture is an effective technique for enrichment of significant subfractions of the genome for targeted analysis. Sequence capture is generally conducted with either a solid-phase substrate usually a glass microarray or alternatively in solution 1-4 . Solutioncapture performance however has not been thoroughly compared to microarray with respect to uniformity of representation of the targeted DNA bases or evenness of DNA sequencing coverage depth between regions 5 6 . Further solution-based sequence capture has not been demonstrated to work effectively at the scale of a human exome approximately 30 Mbp but typically has been limited to targets 5 Mbp in size. Despite this solution capture has several advantages when compared to microarrays the reagent cost is lower less DNA is required and because the capture method can be conducted entirely in small laboratory tubes it is readily scaled and automated. Before solution-capture sequencing can be widely adopted however the reproducibility of the method must first be demonstrated and targets should show similar levels of coverage from capture to capture. Ideally solution-capture methods should also be able to .