发明名称 Comprehensive Analysis Pipeline for Discovery of Human Genetic Variation
摘要 Systems and methods for analyzing genetic sequence data involve: (a) obtaining, by a computer system, genetic sequencing data pertaining to a subject; (b) splitting the genetic sequencing data into a plurality of segments; (c) processing the genetic sequencing data such that intra-segment reads, read pairs with both mates mapped to the same data set, are saved to a respective plurality of individual binary alignment map (BAM) files corresponding to that respective segment; (d) processing the genetic sequencing data such that inter-segment reads, read pairs with both mates mapped to different segments, are saved into at least a second BAM file; and (e) processing at least the first plurality of BAM files along parallel processing paths. The plurality of segments may correspond to any given number of genomic subregions and may be selected based upon the number of processing cores used in the parallel processing.
申请公布号 US2013311106(A1) 申请公布日期 2013.11.21
申请号 US201313838677 申请日期 2013.03.15
申请人 THE RESEARCH INSTITUTE AT NATIONWIDE CHILDREN'S HOSPITAL 发明人 WHITE PETER;NEWSOM DAVID LAWRENCE;HU YANGQIU
分类号 G06F19/20;G06F19/16;G06F19/18 主分类号 G06F19/20
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