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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.

Key Documents

Working Group Members

Peter Robinson, Institut für Medizinische Genetik und Humangenetik, Charité - Universitätsmedizin Berlin
Other TBA

DateStage Code
2013-09-03 0010
2013-09-24 0020
2013-09-26 0050
2013-09-26 0080
2013-09-26 0099
2013-11-12 1010
2013-11-12 1020
2013-11-20 1050
2013-11-20 1080
2014-03-07 1099