ClinGen: First FDA- Approved Genomic Variants Database
- 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.
- 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.
- 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.
- 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 ClinicalTrials.gov data, and 1st, 4th and 5th place in three measures of ranking abstracts.