SVIM-asm: structural variant detection from haploid and diploid genome assemblies | Zendy

David N. Heller | Zendy; Martin Vingron | Zendy

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SVIM-asm: structural variant detection from haploid and diploid genome assemblies

Author(s) -

David N. Heller,

Martin Vingron

Publication year - 2020

Publication title -

bioinformatics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.599

H-Index - 390

eISSN - 1367-4811

pISSN - 1367-4803

DOI - 10.1093/bioinformatics/btaa1034

Subject(s) - ploidy , genome , biology , genetics , computational biology , evolutionary biology , gene

With the availability of new sequencing technologies, the generation of haplotype-resolved genome assemblies up to chromosome scale has become feasible. These assemblies capture the complete genetic information of both parental haplotypes, increase structural variant (SV) calling sensitivity and enable direct genotyping and phasing of SVs. Yet, existing SV callers are designed for haploid genome assemblies only, do not support genotyping or detect only a limited set of SV classes.

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