HaploTypo: a variant-calling pipeline for phased genomes.
Where this comes from
- Record sourced from PubMed, PMID 31834373.
- Also identified by DOI 10.1093/bioinformatics/btz933 and PMC identifier 7178392.
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Abstract
An increasing number of phased (i.e. with resolved haplotypes) reference genomes are available. However, the most genetic variant calling tools do not explicitly account for haplotype structure. Here, we present HaploTypo, a pipeline tailored to resolve haplotypes in genetic variation analyses. HaploTypo infers the haplotype correspondence for each heterozygous variant called on a phased reference genome. HaploTypo is implemented in Python 2.7 and Python 3.5, and is freely available at https://github.com/gabaldonlab/haplotypo, and as a Docker image. Supplementary data are available at Bioinformatics online.
Medical subject headings
- Genome
- Software