ClinGen
Researchers described the process they took to adapt their methodology for improved BRCA variant classification through ClinGen in a new study this week.
CDC, ClinGen Partner to Develop Curated List of Important Variants for Use in NGS Genetic Testing
The 546 variants will be a resource for the design of analytical validation studies and simulated reference materials for clinical genomic tests, the partners said.
NIH Awards $73M to Continue Buildout of ClinGen
NHGRI and NCI are supplying the funds over five years to teams at five institutions that have been leading the ClinGen effort since its initial inception in 2013.
ACMG, ClinGen Publish Recommendations for Interpretation, Reporting of CNVs
This report contains a quantitative, evidence-based scoring framework to help guide the evaluation of constitutional CNVs across clinical labs.
FDA Recognizes ClinGen Database for Development of Clinical Tests
The endorsement is the agency's first through the Human Variant Database Program, for which it released final guidance earlier this year.