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trioPhaser: using Mendelian inheritance logic to improve genomic phasing of trios.

Dustin B MillerStephen R Piccolo
Published in: BMC bioinformatics (2021)
trioPhaser is a containerized software tool that uses both Mendelian inheritance logic and SHAPEIT4 to phase trios when gVCF files are available. By implementing both phasing methods, more variant positions are phased compared to what either method is able to phase alone.
Keyphrases
  • mitochondrial dna
  • copy number
  • gene expression
  • quality improvement
  • dna methylation
  • data analysis