A computational model for classification of BRCA2 variants using mouse embryonic stem cell-based functional assays

Abstract Sequencing-based genetic tests to identify individuals at increased risk of hereditary breast and ovarian cancers have resulted in the identification of more than 40,000 sequence variants of BRCA1 and BRCA2. A majority of these variants are considered to be variants of uncertain significanc...

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Auteurs principaux: Kajal Biswas, Gary B. Lipton, Stacey Stauffer, Teresa Sullivan, Linda Cleveland, Eileen Southon, Susan Reid, Valentin Magidson, Edwin S. Iversen, Shyam K. Sharan
Format: article
Langue:EN
Publié: Nature Portfolio 2020
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R
Accès en ligne:https://doaj.org/article/040ac1e333f54a36a947eae448e108dd
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