Article

Locityper: targeted genotyping of complex polymorphic genes

2024-05-05

Abstract excerpt

The human genome contains numerous structurally-variable polymorphic loci, including several hundred disease-associated genes, almost inaccessible for accurate variant calling. Here we present Locityper, a tool capable of genotyping such challenging genes using short and long-read whole genome sequencing. For each target, Locityper recruits and aligns reads to locus haplotypes, for instance extracted from a pangen...

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Literature Corpus work: b0f495d5-438c-5dfa-86ec-0bb429bcdf36
DOI: 10.1101/2024.05.03.592358

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