Annual review of biomedical data science · 2024
Generating Clinical-Grade Gene-Disease Validity Classifications Through the ClinGen Data Platforms.
СтатьяОбзорПоддержка NIH: внешняя программаНазвание и аннотация: Перевод в очереди
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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
Аннотация
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 knowledge gap concerning the strength of evidence supporting the role of a gene in a monogenic disease, which is achieved through a process known as Gene-Disease Validity curation. Here we review the work of ClinGen in developing a curation infrastructure that supports the standardization, harmonization, and dissemination of Gene-Disease Validity data through the creation of frameworks and the utilization of common data standards. This infrastructure is based on several applications, including the ClinGen GeneTracker, Gene Curation Interface, Data Exchange, GeneGraph, and website.