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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Detalles Bibliográficos
Autores principales: Kuang, Da, Truty, Rebecca, Weile, Jochen, Johnson, Britt, Nykamp, Keith, Araya, Carlos, Nussbaum, Robert L, Roth, Frederick P
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Original Papers
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8016487/
https://www.ncbi.nlm.nih.gov/pubmed/33300982
http://dx.doi.org/10.1093/bioinformatics/btaa1008

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8016487/
https://www.ncbi.nlm.nih.gov/pubmed/33300982
http://dx.doi.org/10.1093/bioinformatics/btaa1008

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