The accurate interpretation of genetic variants is fundamental to the ability to provide appropriatehealth care and a key part of the mission of the Human Variome Project. The development, adoptionand continued use of standardised processes, based on qualitative, quantitative, or a mixture of both,methods is necessary to ensure that interpretations are consistent with current knowledge, able to bedefended as required and can be repeatedly generated.
- Assigning Pathogenicity to a Genetic Variant HVP/AP/002/01/EN
- Assigning Pathogenicity to a Genetic Variant - ICO Comments ICO/PP/007-01-EN
- Charter - WG02 ISAC/C/001/01/EN
Working Group Members
Marc Greenblatt (Chair)