Article
The Human Gene Mutation Database (HGMD) and its exploitation in the fields of personalized genomics and molecular evolution.
Current protocols in bioinformatics - 1 Sept 2012
Stenson Peter D, Ball Edward V, Mort Matthew, Phillips Andrew D, Shaw Katy, Cooper David N
Abstract excerpt
The Human Gene Mutation Database (HGMD) constitutes a comprehensive core collection of data on germ-line mutations in nuclear genes underlying or associated with human inherited disease (http://www.hgmd.org). Data cataloged include single-base-pair substitutions in coding, regulatory, and splicing-relevant regions, micro-deletions and micro-insertions, indels, and triplet repeat expansions, as well as gross gene...
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