Department of Biochemistry and Biophysics, National Bioinformatics Infrastructure Sweden, Science for Life Laboratory, Stockholm University, Solna, Sweden.
Institute for Medical Biometry and Bioinformatics, Medical Faculty, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
Methods Mol Biol. 2023;2590:127-138. doi: 10.1007/978-1-0716-2819-5_8.
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.
WhatsHap 是一个用于相位推断和相关任务的命令行工具。它允许基于覆盖至少两个杂合变体的(最好是长的)读取,推断二倍体和多倍体样本中的单倍型。它提供了用于处理相位变异呼叫的附加工具,例如计算统计信息、比较不同的相位和将对齐文件中的读取分配给它们的单倍型。