Article
Databases for neurogenetics: introduction, overview, and challenges.
Human mutation - 1 Sept 2012
Sobrido María-Jesús, Cacheiro Pilar, Carracedo Angel, Bertram Lars
Abstract excerpt
The importance for research and clinical utility of mutation databases, as well as the issues and difficulties entailed in their construction, is discussed within the Human Variome Project. While general principles and standards can apply to most human diseases, some specific questions arise when dealing with the nature of genetic neurological disorders. So far, publically accessible mutation databases exist for...
Topics
- Computational Biology
- Databases, Genetic
- Genetic Association Studies
- Genetic Diseases, Inborn
- Genetic Heterogeneity
- Genome, Human
- Humans
- Information Storage and Retrieval
- Mutation
- Nervous System Diseases