Welcome to Hpo Case Annotator’s documentation!¶
Hpo Case Annotator is an application designed to help biocurate pathogenic variants published in scientific literature.
Each case that is curated will contain details of the disease-causing variants, phenotype, disease, and other metadata.
Curated data is stored in
JSON format (one file for each case). The application is also designed to perform a
number of Q/C checks to ensure that the data is consistent. The app can export data in
Phenopacket format, but it contains a superset of the
information required for phenopackets. Future versions of this app will probably converge to the Phenopacket
format, and currently the app is still in a preliminary stage of development, although it works as advertized.