Echtvar: compressed variant representation for rapid annotation and filtering of SNPs and indels

Germline and somatic variants within an individual or cohort are interpreted with information from large cohorts. Annotation with this information becomes a computational bottleneck as population sets grow to terabytes of data. Here, we introduce echtvar, which efficiently encodes population variant...

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Detalles Bibliográficos
Autores principales: Pedersen, Brent S, de Ridder, Jeroen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Methods Online
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9841399/
https://www.ncbi.nlm.nih.gov/pubmed/36300617
http://dx.doi.org/10.1093/nar/gkac931

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9841399/
https://www.ncbi.nlm.nih.gov/pubmed/36300617
http://dx.doi.org/10.1093/nar/gkac931

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