Patent · US Active

Computation pipeline of location-dependent variant calls

US10424396B2 · kind B2 · utility

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10Claims
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Inventors

Key dates

Filing dateMar 24, 2016
Grant dateSep 24, 2019
Priority date
Expiry dateDec 27, 2037

Classification

  • Technology area (CPC G)Physics
  • CPC primaryG16C20/60
  • WIPO fieldComputer technology
  • WIPO sectorElectrical engineering

Abstract

The present disclosure provides a computer-implemented method for analyzing variants from a plurality of nucleic acid sequence reads using a computation pipeline, which comprises a module depending on a location-dependent parameter. The method comprises executing on a processor the steps of: receiving a plurality of nucleic acid sequence reads comprising at least a first nucleic acid sequence read and a second nucleic acid sequence read; mapping the first nucleic acid sequence read and the second nucleic acid sequence read to a first location and a second location in a genome, respectively; setting a first value and a second value for the location-dependent parameter on the basis of the first location and the second location in the genome, respectively; passing the first nucleic acid sequence read and the second nucleic acid sequence read through the module using the first value and the second value, respectively; and generating a variant call.

Source: USPTO / EPO open patent data. Objective bibliographic and citation counts.