An extended set of yeast-based functional assays accurately identifies human disease mutations

We can now routinely identify coding variants within individual human genomes. A pressing challenge is to determine which variants disrupt the function of disease-associated genes. Both experimental and computational methods exist to predict pathogenicity of human genetic variation. However, a syste...

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Detalhes bibliográficos
Publicado no:Genome Res
Main Authors: Sun, Song, Yang, Fan, Tan, Guihong, Costanzo, Michael, Oughtred, Rose, Hirschman, Jodi, Theesfeld, Chandra L., Bansal, Pritpal, Sahni, Nidhi, Yi, Song, Yu, Analyn, Tyagi, Tanya, Tie, Cathy, Hill, David E., Vidal, Marc, Andrews, Brenda J., Boone, Charles, Dolinski, Kara, Roth, Frederick P.
Formato: Artigo
Idioma:Inglês
Publicado em: Cold Spring Harbor Laboratory Press 2016
Assuntos:
Method
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4864455/
https://ncbi.nlm.nih.gov/pubmed/26975778
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/gr.192526.115
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