NIH programs shed light on gene variants and their connections to health and disease

Programs supported by the National Institutes of Health are establishing which genes and genomic variants play a role in human disease, enabling their use in genomic medicine and research. NIH’s Clinical Genome Resource (ClinGen(link is external)) and ClinVar programs address a major barrier to incorporating genomic medicine into healthcare, which is a lack of evidence about the relationship between gene variants and diseases. A special issue of Human Mutation(link is external), published on Oct. 12, highlights the broad array of advances made through these programs, which work in concert to advance knowledge connecting human genomic variation to human health.

The full news release can be viewed at this link.