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Prioritizing genes for systematic variant effect mapping

MOTIVATION: When rare missense variants are clinically interpreted as to their pathogenicity, most are classified as variants of uncertain significance (VUS). Although functional assays can provide strong evidence for variant classification, such results are generally unavailable. Multiplexed assays...

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Detalhes bibliográficos
Publicado no:Bioinformatics
Main Authors: Kuang, Da, Truty, Rebecca, Weile, Jochen, Johnson, Britt, Nykamp, Keith, Araya, Carlos, Nussbaum, Robert L, Roth, Frederick P
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8016487/
https://ncbi.nlm.nih.gov/pubmed/33300982
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/bioinformatics/btaa1008
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