Genetic mutation databases: Stakes and perspectives for orphan genetic diseases

被引：2

作者：

Humbertclaude, V. ^{[1
,2
]}

Tuffery-Giraud, S. ^{[2
,3
]}

Bareil, C. ^{[1
]}

Theze, C. ^{[1
]}

Paulet, D. ^{[3
]}

Desmet, F. -O. ^{[2
]}

Hamroun, D. ^{[1
,2
]}

Baux, D. ^{[1
]}

Girardet, A. ^{[1
]}

Collod-Beroud, G. ^{[2
]}

Van Kien, P. Khau ^{[1
]}

Roux, A. -F. ^{[1
]}

des Georges, M. ^{[1
,2
]}

Beroud, C. ^{[1
,2
,3
]}

Claustres, M. ^{[1
,2
,3
]}

机构：

[1] CHU Montpellier, Genet Mol Lab, F-34000 Montpellier, France

[2] INSERM, U837, F-34000 Montpellier, France

[3] Univ Montpellier I, UFR Med, F-34000 Montpellier, France

来源：

PATHOLOGIE BIOLOGIE | 2010年 / 58卷 / 05期

关键词：

Human variation database; LSDB; Mutations; Genetic disorders; CYSTIC-FIBROSIS; INHERITED DISORDERS; STRUCTURAL-ANALYSIS; NONSENSE MUTATIONS; DYSTROPHIN GENE; SEQUENCE; DUCHENNE; GENOME; PTC124; DNA;

D O I：

10.1016/j.patbio.2009.09.008

中图分类号：

R36 [病理学];

学科分类号：

100104 ;

摘要：

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 the most efficient mutation databases. This review presents the main types of databases available for the analysis of mutations responsible for genetic disorders, as well as open perspectives for new therapeutic research or challenges for future medicine. Accurate and exhaustive collection of variations in human genomes will be crucial for research and personalized delivery of healthcare. (C) 2009 Elsevier Masson SAS. All rights reserved.

引用

页码：387 / 395

页数：9

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