{S}[B] SchemaBlocks
Community Standards and Practices
Community Standards and Practices
GA4GH :: Discovery
{S}[B] SchemaBlocks
Description: Phenopackets.org Information Site
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 synergy between the people, organizations and systems that comprise the joint effort to addres
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 m
Phenopackets is an evolving standard jointly developed by researchers, clinicians, curators and authors. Journals, model organism databases, medical data repositories and commercial efforts are encouraged to adopt Phenopackets as a way to improve their use and publication of detailed and computable characterizations of disease. This will enable new modes of treatment and drug discovery, including translational research, precision medicine, and automated pipelines revealing knowledge in existing publications
{S}[B] SchemaBlocks
Community Standards and Practices
Community Standards and Practices
GA4GH :: Discovery
{S}[B] SchemaBlocks