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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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Detalles Bibliográficos
Autores principales:	Niehus, Sebastian, Jónsson, Hákon, Schönberger, Janina, Björnsson, Eythór, Beyter, Doruk, Eggertsson, Hannes P., Sulem, Patrick, Stefánsson, Kári, Halldórsson, Bjarni V., Kehr, Birte
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7851401/ https://www.ncbi.nlm.nih.gov/pubmed/33526789 http://dx.doi.org/10.1038/s41467-020-20850-5

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