Comprehensive analysis pipeline for discovery of human genetic variation

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United States of America Patent

PATENT NO 9552458
SERIAL NO

13838677

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Abstract

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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.

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Patent Owner(s)

Patent OwnerAddress
THE RESEARCH INSTITUTE AT NATIONWIDE CHILDREN'S HOSPITAL700 CHILDREN'S DRIVE COLUMBUS OH 43205

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Inventor(s)

Inventor Name Address # of filed Patents Total Citations
Hu, Yangqiu Lewis Center, US 30 285
Newsom, David Lawrence Dublin, US 2 144
White, Peter Bexley, US 33 1769

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