HGMD also does not attempt to provide comprehensive coverage of pharmacological variants (except for those variants where evidence supporting a functional impairment has been provided) such variants are covered by PharmGKB (Thorn et al. HGMD does not include either somatic or mitochondrial mutations, which are well covered by COSMIC (Forbes et al. The public version of HGMD ( ) is freely available to registered users from academic institutions/non-profit organizations whilst the subscription version (HGMD Professional) is available to academic, clinical and commercial users under license via BIOBASE GmbH. However, it has since acquired a much broader utility as a central unified disease-oriented mutation repository utilized by human molecular geneticists, genome scientists, molecular biologists, clinicians and genetic counsellors as well as by those specializing in biopharmaceuticals, bioinformatics and personalized genomics. HGMD was originally established in 1996 for the scientific study of mutational mechanisms in human genes. By June 2013, the database contained over 141,000 different lesions detected in over 5,700 different genes, with new mutation entries currently accumulating at a rate exceeding 10,000 per annum. The Human Gene Mutation Database (HGMD ®) is a comprehensive collection of germline mutations in nuclear genes that underlie, or are associated with, human inherited disease.
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