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

MOTIVATION: 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 sensiti...

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Detalles Bibliográficos
Autores principales: Heller, David, Vingron, Martin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8016491/
https://www.ncbi.nlm.nih.gov/pubmed/33346817
http://dx.doi.org/10.1093/bioinformatics/btaa1034