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PopDel identifies medium-size deletions simultaneously in tens of thousands of genomes

Thousands of genomic structural variants (SVs) segregate in the human population and can impact phenotypic traits and diseases. Their identification in whole-genome sequence data of large cohorts is a major computational challenge. Most current approaches identify SVs in single genomes and afterward...

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Detalhes bibliográficos
Publicado no:Nat Commun
Main Authors: Niehus, Sebastian, Jónsson, Hákon, Schönberger, Janina, Björnsson, Eythór, Beyter, Doruk, Eggertsson, Hannes P., Sulem, Patrick, Stefánsson, Kári, Halldórsson, Bjarni V., Kehr, Birte
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2021
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7851401/
https://ncbi.nlm.nih.gov/pubmed/33526789
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41467-020-20850-5
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