The Human Gene Mutation Database: 2008 update

The Human Gene Mutation Database (HGMD？) [1] records the first report of a disease-causing mutation or disease-associated/functional polymorphism and provides these data in a readily accessible form to all interested parties, whether they are from an academic, a clinical or a commercial background. HGMD has become the de facto central disease-associated mutation database available to the scientific community. The data comprise single base-pair substitutions in coding, regulatory and splicing-relevant regions of human nuclear genes, micro-deletions and micro-insertions, combined insertions/deletions (indels), repeat expansions, gross lesions (deletions, insertions and duplications) and complex rearrangements (including inversions). These categories of mutation data are summarized in Table 1.Mutation and polymorphism data are obtained by means of a combination of manual and computerized search procedures. Thus, online library screening, the PubMed database and publicly available locus-specific mutation databases (LSDBs) are all used to optimize data acquisition. Each mutation or disease-associated/functional polymorphism is entered into HGMD only once under its earliest literature citation. Silent mutations within the coding region that do not alter the encoded amino acid are not recorded unless there is clear evidence of altered splicing and/or a direct disease association. Mutations that have not been adequately or unambiguously described in the corresponding literature report are also excluded unless full details can subsequently be obtained from the authors. Disease-associated/functional polymorphisms (see below) are excluded if the published data are deemed to be of insufficient quality (either because of the description provided or because of a tenuous/non-significant association with a clinical or laboratory phenotype). HGMD does not include somatic lesions or mitochondrial genome mutations. These are well covered by COSMIC [2] and MITOMAP [3], respectively.Mut