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Shedding light on gene variants and their connections to health and disease

06:22 EDT 12 Oct 2018 | Science Daily

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.

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