The Human Gene Mutation Database (HGMD^®): optimizing its use in a clinical diagnostic or research setting

Area of Science:

• Genetics and Genomics
• Human Molecular Genetics
• Bioinformatics

Background:

• The Human Gene Mutation Database (HGMD) is a curated repository of germline mutations associated with human inherited diseases.
• It contains extensive data on gene lesions across numerous genes, sourced from peer-reviewed literature.

Purpose of the Study:

• To provide a comprehensive overview of the Human Gene Mutation Database (HGMD).
• To guide research scientists and clinical diagnosticians on maximizing the utility of HGMD data.
• To highlight the scope and application of HGMD in the study of human inherited diseases.

Main Methods:

• Manual curation of mutations from over 3100 peer-reviewed journals.
• Data compilation and organization of gene lesions and associated inherited diseases.
• Review of existing literature to identify user needs and data application strategies.

Main Results:

• As of June 2020, HGMD contains over 289,000 distinct gene lesions.
• These mutations span more than 11,100 genes.
• The database is derived from 72,987 curated articles.

Conclusions:

• HGMD is an indispensable resource for understanding the genetic basis of human inherited diseases.
• Effective utilization of HGMD data can significantly advance research and clinical diagnostics.
• The database's comprehensive nature supports diverse applications in genetics and medicine.