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

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 significance (VUS) b...

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Publicat a:NPJ Genom Med
Autors principals: Biswas, Kajal, Lipton, Gary B., Stauffer, Stacey, Sullivan, Teresa, Cleveland, Linda, Southon, Eileen, Reid, Susan, Magidson, Valentin, Iversen, Edwin S., Sharan, Shyam K.
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group UK 2020
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7722754/
https://ncbi.nlm.nih.gov/pubmed/33293522
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41525-020-00158-5
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