ClinGen: Revolutionizing Genomic Medicine with Global Consortium

The Clinical Genome Resource (ClinGen), supported by the National Institutes of Health, has curated more than **2,700 genes** to establish their relevance to diseases such as cancer, cardiovascular conditions, and neurodevelopmental disorders. This work, detailed in Genetics in Medicine, involves a global consortium of over **2,500 experts from 69 countries**. Their goal is to standardize the assessment and curation of genomic data, enhancing its utility in healthcare and research. The curated data is publicly accessible and integrated into databases like ClinVar and the GenCC. As of 2024, ClinGen experts have validated numerous gene-disease relationships and pathogenic variants across pediatric and adult care settings. Key software infrastructure developed by Baylor's Bioinformatics Research Lab, such as the Clingen Allele Registry, supports these efforts by making genomic data findable, accessible, and interoperable. Baylor focuses on hereditary cancer genes, with ongoing support from national genome and cancer research institutes.