Article
The Human Gene Mutation Database (HGMD) and its exploitation in the study of mutational mechanisms.
Current protocols in bioinformatics - 1 Jan 2006
Cooper David N, Stenson Peter D, Chuzhanova Nadia A
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, microdeletions and microinsertions, indels, and triplet repeat expansions, as well as gross gene...
Topics
- Base Sequence
- Computer Graphics
- DNA Mutational Analysis
- Database Management Systems
- Databases, Genetic
- Genome, Human
- Humans
- Information Storage and Retrieval
- Molecular Sequence Data
- Mutation
- Polymorphism, Single Nucleotide