Parliament2: Accurate structural variant calling at scale

BACKGROUND: Structural variants (SVs) are critical contributors to genetic diversity and genomic disease. To predict the phenotypic impact of SVs, there is a need for better estimates of both the occurrence and frequency of SVs, preferably from large, ethnically diverse cohorts. Thus, the current st...

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Detalles Bibliográficos
Publicado en:Gigascience
Autores principales: Zarate, Samantha, Carroll, Andrew, Mahmoud, Medhat, Krasheninina, Olga, Jun, Goo, Salerno, William J, Schatz, Michael C, Boerwinkle, Eric, Gibbs, Richard A, Sedlazeck, Fritz J
Formato: Artigo
Lenguaje:Inglês
Publicado: Oxford University Press 2020
Materias:
Technical Note
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC7751401/
https://ncbi.nlm.nih.gov/pubmed/33347570
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/gigascience/giaa145
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