CDC, ClinGen Partner to Develop Curated List of Important Variants for Use in NGS Genetic Testing

The Centers for Disease Control and Prevention said on Monday that its Genetic Testing Reference Materials Program (GeT-RM) has partnered with the Clinical Genome Resource (ClinGen) to develop a publicly available list of 546 curated clinically important variants in 84 genes for use in next-generation sequencing genetic testing.

By defining variants that are either major contributors to disease or difficult to detect, the list will serve as a resource for the design of comprehensive analytical validation studies, as well as the creation of computer-modulated or simulated reference materials for clinical genomic test development, the partners said.

Source: https://www.genomeweb.com/genetic-research/cdc-clingen-partner-develop-curated-list-important-variants-use-ngs-genetic#.YWXWrrhKiUk