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[Genetic mutation databases: stakes and perspectives for orphan genetic diseases].

Pathologie-biologie - 1 Oct 2010

Humbertclaude V, Tuffery-Giraud S, Bareil C, Thèze C, Paulet D, Desmet F-O, Hamroun D, Baux D, Girardet A, Collod-Béroud G, Khau Van Kien P, Roux A-F, des Georges M, Béroud C, Claustres M

Abstract excerpt

New technologies, which constantly become available for mutation detection and gene analysis, have contributed to an exponential rate of discovery of disease genes and variation in the human genome. The task of collecting and documenting this enormous amount of data in genetic databases represents a major challenge for the future of biological and medical science. The Locus Specific Databases (LSDBs) are so far...

Topics

Codon, Terminator
Databases, Genetic
Ethnicity
Forecasting
Genetic Diseases, Inborn
Genetic Therapy
Genetics, Medical
Genotype
Humans
Internet
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Phenotype

RNA, Antisense

Rare Diseases

Terminology as Topic

Transcription, Genetic

Source

Identifiers

PMID: 19954899
DOI: 10.1016/j.patbio.2009.09.008

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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