Article
Generating Clinical-Grade Gene-Disease Validity Classifications Through the ClinGen Data Platforms.
Annual review of biomedical data science - 1 Aug 2024
Wright Matt W, Thaxton Courtney L, Nelson Tristan, DiStefano Marina T, Savatt Juliann M, Brush Matthew H, Cheung Gloria, Mandell Mark E, Wulf Bryan, Ward T J, Goehringer Scott, O'Neill Terry, Weller Phil, Preston Christine G, Keseler Ingrid M, Goldstein Jennifer L, Strande Natasha T, McGlaughon Jennifer, Azzariti Danielle R, Cordova Ineke, Dziadzio Hannah, Babb Lawrence, Riehle Kevin, Milosavljevic Aleksandar, Martin Christa Lese, Rehm Heidi L, Plon Sharon E, Berg Jonathan S, Riggs Erin R, Klein Teri E
Abstract excerpt
Clinical genetic laboratories must have access to clinically validated biomedical data for precision medicine. A lack of accessibility, normalized structure, and consistency in evaluation complicates interpretation of disease causality, resulting in confusion in assessing the clinical validity of genes and genetic variants for diagnosis. A key goal of the Clinical Genome Resource (ClinGen) is to fill the...
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