HGMD

HGMD catalogs germline mutations in nuclear genes associated with human inherited diseases for use in mutation annotation and interpretation.

Key Features:

• Mutation spectrum: Records single base-pair substitutions (including coding, regulatory, and splicing-relevant positions), micro‑deletions, micro‑insertions, indels, triplet repeat expansions, gross deletions, insertions, duplications, and complex rearrangements.
• Scale and curation: Contains over 203,000 distinct gene lesions across more than 8,000 genes curated from over 2,600 scientific journals, with an annual accrual exceeding 17,000 mutation entries.
• Unique mutation recording: Each mutation is recorded uniquely to distinguish recurrent events from identical‑by‑descent lesions.
• Reference sequences: Provides cDNA reference sequences for over 87% of listed genes and splice junction sequences.
• Polymorphism annotation: Includes disease-associated polymorphisms and functional polymorphisms.
• Cross-references: Provides links to publicly available locus-specific mutation databases.

Scientific Applications:

• Disease research: Supports investigation of mutational mechanisms and gene–disease relationships.
• Clinical interpretation: Supports interpretation of clinical test results and genetic counseling.
• Next-generation sequencing annotation: Serves as a reference for annotating variants from next-generation sequencing data.
• Bioinformatics and biopharmaceutical research: Used for variant interpretation and gene/disease-oriented analyses in bioinformatics and biopharmaceutical studies.

Methodology:

Mutations are manually curated from peer‑reviewed scientific journals and each entry is recorded uniquely; cDNA reference sequences and splice junction sequences are compiled for listed genes.