A phenomics-first resource for interpretation of variants

The human genome has been sequenced, and yet so much is unknown about what it does; what we do know is scattered across multiple, heterogeneous data sources that are difficult to integrate. The Phenomics First Center of Excellence coordinates the efforts of a large community of researchers and clinicians to help decode how the differences (variants) in a patient’s genome and their physical characteristics (phenotypes). To accomplish this, we are developing tools to modernize how biomedical information about genetic conditions is captured, stored, and exchanged.

Phenomics First (press release) is one of a number of efforts driven by the Monarch Initiative, which seeks to integrate the world’s gene-to-phenotype-to-disease knowledge in a comprehensive knowledge graph to aid variant prioritization and ultimately clinical diagnostics. An important pillar of this work is the unification of phenotype ontologies using community- and pattern-driven ontology development. The ultimate goal is a deeply integrated Unified Phenotype Ontology (uPheno) that enables applications such as cross-species phenotype matching, phenotypic profile matching for disease diagnostics and improved variant prioritization. Part of the strategy for ontology merging and mapping involves an effort to establish a Simple Standard for Sharing Ontology Mappings (SSSOM).

Phenomics First will gather and unify the data from numerous sources to advance genomic interpretation in clinical settings, and will help both researchers and clinicians to overcome long-standing barriers to discovery and patient care.