Genetic mutation databases: Stakes and perspectives for orphan genetic diseases. Banques de données de mutations : enjeux et perspectives pour les maladies génétiques orphelines

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Humbertclaude, M | Tuffery-Giraud, Sylvie | Bareil, C. | Thèze, C. | Paulet, P | Desmet, D | Hamroun, D. | Baux, David | Girardet, G | Collod-Béroud, Gwenaëlle | Khau van Kien, P. | Roux, A.-F. | Des Georges, M. | Béroud, Christophe | Claustres, M.

Edité par CCSD ; Elsevier Masson -

International audience. 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.

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