Ontology highlight
ABSTRACT:
SUBMITTER: Pegueroles C
PROVIDER: S-EPMC7178392 | biostudies-literature | 2020 Apr
REPOSITORIES: biostudies-literature
Pegueroles Cinta C Mixão Verónica V Carreté Laia L Molina Manu M Gabaldón Toni T
Bioinformatics (Oxford, England) 20200401 8
<h4>Summary</h4>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.<h4>Availability and implementation</h4>HaploTypo is implemented in Python 2 ...[more]