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HaploTypo: a variant-calling pipeline for phased genomes

Pegueroles, Cinta; Mixao, Veronica; Carrete, Laia; Molina, Manu; Gabaldon, Toni

BIOINFORMATICS
2020
VL / 36 - BP / 2569 - EP / 2571
abstract
A Summary: 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.

AccesS level

Gold other, Green published

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