Read-Based Phasing and Analysis of Phased Variants with WhatsHap
Marcel Martin, Peter Ebert, Tobias Marschall
Abstract
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.
Topics & Concepts
PhaserHaplotypePolyploidComputer sciencePloidyBiologyGeneticsPhysicsAlleleOpticsGeneGenomics and Phylogenetic StudiesPhytoplasmas and Hemiptera pathogensGenomics and Rare Diseases