PHENOPACKETS

Phenopackets are represented as PXF (Phenotype Exchange Format) files, which may be encoded in JSON or YAML. Each packet associates a list of phenotypic abnormalities with a disease and patient, including details about age, sex, onset, and evidence. PXF uses standard ontologies to ensure interoperability between diverse sources and consumers, to simplify text-mining, and to enable machine reasoning. Software libraries supporting PXF have been written for Java, Python, and Javascript, and the open standard makes it easy to adapt to other languages, systems and applications... An open standard for sharing disease and phenotype information will improve our ability to understand, diagnose, and treat both rare and common diseases. A Phenopacket links detailed phenotype descriptions with disease, patient, and genetic information, enabling clinicians, biologists, and disease and drug researchers to build more complete models of disease. The standard is designed to encourage wide adoption and..

Also known as: Phenopackets.org