HGMD

Other names: hgmd

The Human Gene Mutation Database (HGMD) - comprehensive collection of germline mutations in nuclear genes that underlie, or are associated with, human inherited disease. It is a flexible resource that can be adapted to a broad range of applications including searching for an overview of known mutations associated with a particular disease, interpreting clinical test results or looking for the likely causal mutation in a list of variants.

Webpage:
http://www.hgmd.org

Publications:

Tags:

genetic variation human pathology data integration and warehousing rare diseases

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