Phenopacket schema published in Nature Biotechnology

The Phenopacket schema has now been published in Nature Biotechnology, with Monarch Initiative lead authors Julius O. B. Jacobsen, Melissa Haendel, and Peter N. Robinson.

The Global Alliance for Genomics and Health (GA4GH) Phenopacket schema provides a human- and machine-readable way to record and share phenotypic data about a patient to support translational research, diagnostics, and personalized healthcare. A Phenopacket characterizes an individual person or biosample with detailed phenotypic descriptions, genetic information, diagnoses and treatments (see Fig. 1, above). The Phenopacket schema supports the exchange of case-level phenotypic information for all types of disease, including Mendelian and complex genetic diseases, cancers and infectious diseases. As Phenopackets increasingly become a standardized way to share clinical data, the value of this data will be amplified, accelerating the progress of clinical research and diagnosis.

The schema is a product of the NIH-funded Phenomics First Center of Excellence, led by Melissa Haendel (CU Anschutz), Chris Mungall (LBNL) and Peter Robinson (Jackson Laboratory).

Jacobsen, J.O.B., Baudis, M., Baynam, G.S. et al. The GA4GH Phenopacket schema defines a computable representation of clinical data. Nat Biotechnol 40, 817–820 (2022). https://doi.org/10.1038/s41587-022-01357-4