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Using species richness calculations to model the global profile of unsampled pathogenic variants: Examples from BRCA1 and BRCA2

There have been many surveys of genetic variation in BRCA1 and BRCA2 to identify variant prevalence and catalogue population specific variants, yet none have evaluated the magnitude of unobserved variation. We applied species richness estimation methods from ecology to estimate “variant richness” an...

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Detalles Bibliográficos
Autores principales:	Rao, Nandana D., Shirts, Brian H.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2023
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9907816/ https://www.ncbi.nlm.nih.gov/pubmed/36753473 http://dx.doi.org/10.1371/journal.pone.0278010

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