Phenopacket-tools released to simplify construction of phenopackets

Spearheaded by JAX Professor Peter Robinson, M.D., M.Sc., the Phenopacket Schema provides a standardized way to characterize an individual or biospecimen and link it with other relevant data, including genetic information. Robinson and colleagues have now developedphenopacket-tools, which simplify construction of phenopackets by providing programmatic shortcuts and predefined building blocks for concepts such as anatomical organs, age of onset, biospecimen type, and clinical modifiers. The phenopacket-tools library will help developers standardize the collection and exchange of clinical data for use in genomic diagnostics, translational research and precision medicine applications.

Learn more about phenopackets.

Peter Robinson also uses clinical data to investigate long COVID subtypes.