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

Yu, Tian; Fife, James D; Adzhubey, Ivan; Sherwood, Richard; Cassa, Christopher A

Yu, Tian; Fife, James D; Adzhubey, Ivan; Sherwood, Richard; Cassa, Christopher A.

Afiliação

Yu T; Division of Genetics, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts.
Fife JD; Division of Genetics, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts.
Adzhubey I; Department of Biomedical Informatics, Blavatnik Institute, Harvard Medical School, Boston, Massachusetts.
Sherwood R; Division of Genetics, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts.
Cassa CA; Division of Genetics, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts.

medRxiv ; 2023 Jan 07.

Article em En | MEDLINE | ID: mdl-36711907

Palavras-chave

Base editing; Clinical risk assessment; Functional screening assays; Genome editing/CRISPR; Precision medicine; Statistical modeling; Variant assessment

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Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Ano de publicação: 2023 Tipo de documento: Article

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Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Ano de publicação: 2023 Tipo de documento: Article