Language
English
Publication Date
1-1-2025
Journal
Genetics in Medicine
DOI
10.1016/j.gim.2024.101228
PMID
39404758
PMCID
PMC11984750
PubMedCentral® Posted Date
4-10-2025
PubMedCentral® Full Text Version
Author MSS
Abstract
The Clinical Genome Resource (ClinGen) is a National Institutes of Health-funded program founded 10 years ago that defines the clinical relevance of genes and variants for medical and research use. ClinGen working groups develop standards for data sharing and curating genomic knowledge. Expert panels, with >2500 active members from 67 countries, curate the validity of monogenic disease relationships, pathogenicity of genetic variation, dosage sensitivity of genes, and actionability of gene-disease interventions using ClinGen standards, infrastructure, and curation interfaces. Results are available on clinicalgenome.org and classified variants are also submitted to ClinVar, a publicly available database hosted by the National Institutes of Health. As of January 2024, over 2700 genes have been curated (2420 gene-disease relationships for validity, 1557 genes for dosage sensitivity, and 447 gene-condition pairs for actionability), and 5161 unique variants have been classified for pathogenicity. New efforts are underway in somatic cancer, complex disease and pharmacogenomics, and a systematic approach to addressing justice, equity, diversity, and inclusion. ClinGen's knowledge can be used to build evidence-based genetic testing panels, interpret copy-number variation, resolve discrepancies in variant classification, guide disclosure of genomic findings to patients, and assess new predictive algorithms. To get involved in ClinGen activities go to https://www.clinicalgenome.org/start.
Keywords
Humans, Genomics, Databases, Genetic, Genome, Human, Genetic Variation, Data Curation, Information Dissemination, Clinical genetics, Curation, Actionability, Data sharing, Dosage
Published Open-Access
yes
Recommended Citation
ClinGen Consortium, "The Clinical Genome Resource (ClinGen): Advancing Genomic Knowledge Through Global Curation" (2025). Faculty, Staff and Students Publications. 8214.
https://digitalcommons.library.tmc.edu/baylor_docs/8214