As part of its End-user Bioinformatics Program, the Cushing Whitney Medical Library is providing access to the the Human Gene Mutation Database (HGMD®) to all Yale affiliates. This database organizes all known genotypes responsible for causing human inherited disease along with disease-associated polymorphisms published in the peer-reviewed literature— HGMD mutation data are manually curated from the scientific literature.
HGMD is available in two versions: one public, one obtainable by subscription. The public version is maintained is only updated twice per annum and is permanently 3 years out of date. The professional version is available to both commercial and academic/non-profit users via subscription from BIOBASE (QIAGEN). Access to HGMD should be done by following this link (https://portal.biobase-international.com/cgi-bin/portal/login.cgi and clicking on HGMD (access to BIOBASE Proteome or TRANSFAC continue to be provided by the medical library). VPN is required if connecting off-campus.
HGMD does not cover either somatic or mitochondrial mutations. For these, please visit COSMIC and MitoMap For pharmacological variants, PharmGKB The Medical Library offers regular training sessions on how to use these and other resources for variant annotation e.g. Database of Genomic Variants, DECIPHER and Copy Number Variation in Disease.