公开(公告)号：US20170220732A1

公开(公告)日：2017-08-03

申请号：US15412503

申请日：2017-01-23

申请人： THE RESEARCH INSTITUTE AT NATIONWIDE CHILDREN'S HOSPITAL

发明人： Peter WHITE ,  David Lawrence NEWSOM ,  Yangyiu HU

IPC分类号： G06F19/20 ,  C12Q1/68 ,  G06F19/22 ,  G06F19/28

CPC分类号： G16B25/00 ,  C12Q1/6874 ,  G16B15/00 ,  G16B20/00 ,  G16B30/00 ,  G16B50/00

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.