Increasing Support for Molecular Consequence Data in Genomic Standards

Molecular consequences of genetic variants determine their impact. For example, the variant NM_001330311.2(DVL1):c.1594del is a frameshift variant whose frameshift causes Robinow syndrome. Constantly enhancing the ability of genetic standards to simplify the aggregation and use of molecular consequences will increase the power of these standards. This project aims to support this goal by modifying the vcf2fhir project and the FHIR Genomics reference implementation to incorporate molecular consequence data. It also involves assessing the FHIR Genomics specification to determine whether its modeling of molecular consequences can be improved.