HGMD

HGMD (Human Gene Mutation Database) is widely regarded as the gold standard resource for comprehensive data on published human inherited disease mutations. Developed and maintained by QIAGEN, it is a manually curated database that aggregates findings from the scientific literature into a computationally accessible format, making it an essential reference for researchers, geneticists, and clinical diagnostics professionals working in the field of inherited disease.

HGMD is available as an online subscription platform with licensing options suited to both research and clinical use, including single named-user licenses, multi-user packages (5 or 10 users), and site licenses. This flexibility makes it appropriate for individual investigators, diagnostic laboratories, and large clinical institutions alike.

Core Database Content

• Over 220,000 mutation reports covering genome coordinates, sequence details, and direct links to source references as well as public resources such as dbSNP and OMIM.
• More than 8,000 summary reports listing all known inherited disease mutations for a given gene, characterized across six distinct pathogenic variant classes.
• Manually curated data drawn from the published scientific literature, ensuring high-quality and reliable mutation annotations.

Search and Analysis Capabilities

• Advanced search functionality enabling users to identify mutations based on the type of nucleotide or amino acid change.
• Ability to locate mutations by their position within a specific motif, splice site, or regulatory region.
• Quick look-up of individual mutations via an easy-to-use online interface, as well as comprehensive searches across all published mutations associated with a particular gene or disease.

Visualization and Export Tools

• A mutation visualization tool that provides a graphical representation of aligned DNA and protein sequences, with color-coded mutated nucleotides displayed for a selected gene.
• Ability to export customized mutation tracks for use in third-party genome browsers and downstream analysis tools, supporting integration into broader bioinformatics workflows.

HGMD Online is part of QIAGEN's broader suite of manually curated bioinformatics databases, which also spans topics such as images of syndromes and undiagnosed malformations, and transcription factor binding sites. Access is governed by the QIAGEN Bioinformatics User Agreement, with separate licensing terms available for research and clinical use contexts.