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Article

General mutation databases: analysis and review.

Journal of medical genetics - 1 Feb 2008

George R A, Smith T D, Callaghan S, Hardman L, Pierides C, Horaitis O, Wouters M A, Cotton R G H

Abstract excerpt

Databases of mutations causing Mendelian disease play a crucial role in research, diagnostic and genetic health care and can play a role in life and death decisions. These databases are thus heavily used, but only gene or locus specific databases have been previously reviewed for completeness, accuracy, currency and utility. We have performed a review of the various general mutation databases that derive their...

Topics

Databases, Genetic
Genome, Human
Humans
Mutation

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 17893115
DOI: 10.1136/jmg.2007.052639

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