ClinGen: First FDA- Approved Genomic Variants Database

  1. We are part of the ClinGen network which is a National Institutes of Health (NIH)-funded resource dedicated to building an authoritative central resource that defines the clinical relevance of genes and variants for use in precision medicine and research.
  2. In collaboration with NLM’s ClinVar database, FDA, and 40 cancer research organizations including NCI designated cancer centers, we developed a prominent standard–the Minimal Variant Level Data (MVLD) framework to promote sharing MolDx data.  MVLD provides provenance information about variant assertions in a manner that supports evaluation of their validity and mapping to the Association of Molecular Pathologists (AMP) guidelines. 
  3. We worked with members of the HL7 clinical genomics team who are developing the Fast Healthcare Interoperability Resources (FHIR) specification to develop a standard for exchanging molecular diagnostic information in clinical systems.
  4. The first version of MACE2K’s NLP module eGARD39 competed in the NIST Text REtrieval Conference (TREC 2017) in the Precision Medicine/Clinical Decision Support Track. It earned 1st place in all three measures for grouping and ranking data, and 1st, 4th and 5th place in three measures of ranking abstracts.

Sponsor: NIH/NHGRI