Center for Medical Ethics and Health Policy Staff Publications
Publication Date
8-1-2024
Journal
Annual Review of Biomedical Data Science
DOI
10.1146/annurev-biodatasci-102423-112456
PMID
38663031
PMCID
PMC12001867
PubMedCentral® Posted Date
8-1-2025
PubMedCentral® Full Text Version
Post-print
Published Open-Access
yes
Keywords
Humans, Databases, Genetic, Genetic Diseases, Inborn, Precision Medicine, Genetic Predisposition to Disease, biocuration, clinical genetics, data harmonization, data standards, precision medicine, research informatics
Abstract
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.