Standardization of disease and phenotype descriptions in gene variant databases is highly desired to improve database interoperability and database quality. To indicate their quality, curators of gene variant databases would like to state that they follow the HVP recommendations regarding content and display of disease and phenotype descriptions. However, such recommendations do not yet exist. Existing recommendations would also help gene variant database software developers, ensuring that their design includes all minimal requirements for adequate storage and display of disease and phenotype details.
- Standards for disease and phenotype descriptions in gene variant databases HVP/AP/007/01/EN
- Standards for disease and phenotype descriptions in gene variant databases (LSDBs) - ICO Comments ICO/PP/011-01-EN
- WG06: Disease & Phenotype Descriptions in Gene/Disease Specific Databases - Charter GDSDBAC/C/003/01/EN
Working Group Members
Peter Robinson, Institut für Medizinische Genetik und Humangenetik, Charité - Universitätsmedizin Berlin