In modern hereditary disease testing, keeping pace with new discoveries is a serious bottleneck. Valuable information can go undetected due to inadequate mining and interpretation mechanisms. These are called "knowledge blind spots" and can have significant clinical consequences.
In response, several variant databases have been developed and cultivated, including the Human Gene Mutation Database. Unlike any other variant database, HGMD attempts to collate all known gene lesions responsible for causing human inherited disease together with disease-associated and functional polymorphisms that have been cited in peer-reviewed literature.
HGMD Professional is the gold standard, industry-leading resource for comprehensive coverage of published germ-line human inherited disease mutations. To learn more about how HGMD is essential to providing better care with better knowledge, download this white paper from Qiagen!