Read-Based Phasing and Analysis of Phased Variants with WhatsHap.
Methods in molecular biology (Clifton, N.J.)(2023)
摘要
WhatsHap is a command-line tool for phasing and phasing-related tasks. It allows to infer haplotypes in diploid and polyploid samples based on (preferably long) reads covering at least two heterozygous variants. It offers additional tools for working with phased variant calls such as computing statistics, comparing different phasings and assigning reads in alignment files to their haplotype.
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关键词
Haplotype assembly,Long reads,Pedigree phasing,Polyploid phasing,Read-based phasing
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