Melissa Haendel, PhD, FACMI (Distinguished Professor, Genetics) is the contact PI for the recently transferred RM1 grant from NHGRI titled “A phenomics-first resource for interpretation of variants”.
Over the past few years, this project has focused on creating a community-driven framework of interoperable phenotype definitions across species (uPheno); harmonizing human disease definitions with the MONDO disease alignment resource; creating a community-wide exchange standard for clinical and model-organism phenotypes (Phenopackets); and developing an integrated phenomics platform to provide the research (e.g. Biolink) and clinical (FHIR) communities with programmatic access to phenomics ontologies, data, and algorithms. Having coordinated the community and prototyped the underlying computational platforms, this project aligns both phenotype ontologies and clinical terminologies, enabling better comparison and inference of phenotypes for improved diagnostic efficacy.