Four times a year, Cardiff University releases new updates to HGMD Pro, its market-leading database for finding disease-causing mutations. The summer update is now available, expanding the world’s largest collection of human inherited disease mutations by an impressive 33,342 new entries. The Human Gene Mutation Database (HGMD) Professional 2023.2 now contains over 444,000 expert-curated mutations.
HGMD Professional’s regular quarterly updates guarantee that clinical geneticists have continuous access to the most up-to-date and comprehensive collection of expert-curated mutations, safeguarding their patients against misinterpretations and misdiagnoses. In 2016, Elisha Cooke-Moore, a wife and working mother in southern Oregon, underwent a series of unnecessary surgeries based on misinterpreted genetic test results, causing her to experience early menopause, multiple follow-up surgeries and PTSD. Elisha’s outcomes could have been different if her genetic test result had been correctly interpreted using a comprehensive, gold-standard resource like HGMD Professional.
Want to learn more about the case and how HGMD Professional could have helped? Read the white paper.