Joint estimation and imputation of variant functional effects using high throughput assay data

Deep mutational scanning assays enable the functional assessment of variants in high throughput. Phenotypic measurements from these assays are broadly concordant with clinical outcomes but are prone to noise at the individual variant level. We develop a framework to exploit related measurements with...

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Detalles Bibliográficos
Autores principales: Yu, Tian, Fife, James D., Adzhubey, Ivan, Sherwood, Richard, Cassa, Christopher A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9882428/
https://www.ncbi.nlm.nih.gov/pubmed/36711907
http://dx.doi.org/10.1101/2023.01.06.23284280

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9882428/
https://www.ncbi.nlm.nih.gov/pubmed/36711907
http://dx.doi.org/10.1101/2023.01.06.23284280

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