Phenopacket-tools released to simplify construction of phenopackets

A visual representation of phenopacket-tools developed by The Jackson Laboratory's Peter Robinson.

As previously announced (see below), the Global Alliance for Genomics and Health (GA4GH) developed the Phenopacket Schema as a standard for sharing disease and clinical phenotype data for any kind of human disease. 

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 developed phenopacket-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.