Shedding light on gene variants and their connections to health and disease
Monday, October 15, 2018 - 01:22
in Biology & Nature
NIH's Clinical Genome Resource (ClinGen) and ClinVar programs are addressing 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 highlights the broad array of advances made through these programs, which work in concert to advance knowledge connecting human genomic variation to human health.