Abstract
Locus-specific databases are the most useful repositories of the sequence information underlying medical genetic conditions and, for this reason, they need our continued support.
This is a preview of subscription content, access via your institution
Access options
Subscribe to this journal
Receive 12 print issues and online access
$189.00 per year
only $15.75 per issue
Buy this article
- Purchase on Springer Link
- Instant access to full article PDF
Prices may be subject to local taxes which are calculated during checkout
References
Amberger, J., Bocchini, C. A., Scott, A. F. & Hamosh, A. McKusick's Online Mendelian Inheritance in Man (OMIM). Nucleic Acids Res. 37, D793–D796 (2009).
Stenson, P. D. et al. The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalized genomics. Hum. Genomics 4, 69–72 (2009).
Thorisson, G. A. et al. HGVbaseG2P: a central genetic association database. Nucleic Acids Res. 37, D797–D802 (2009).
George, R. A. et al. General mutation databases: analysis and review. J. Med. Genet. 45, 65–70 (2008).
Fokkema, I. F., den Dunnen, J. T. & Taschner, P. E. LOVD: easy creation of a locus-specific sequence variation database using an “LSDB-in-a-box” approach. Hum. Mutat. 26, 63–68 (2005).
Bale, S. et al. MutaDATABASE: a centralized and standardized DNA variation database. Nature Biotech. 29, 117–118 (2011).
Ku, C. S., Naidoo, N. & Pawitan, Y. Revisiting Mendelian disorders through exome sequencing. Hum. Genet. 129, 351–370 (2011).
Acknowledgements
G.A.R. is grateful for the support received through his positions as Canada Research Chair and Jeanne-et-J.-Louis-Levesque Chair for the Genetics of Brain Diseases.
Author information
Authors and Affiliations
Corresponding author
Ethics declarations
Competing interests
The authors declare no competing financial interests.
Related links
Related links
DATABASES
Cystic Fibrosis Mutation Database
FURTHER INFORMATION
Rights and permissions
About this article
Cite this article
Samuels, M., Rouleau, G. The case for locus-specific databases. Nat Rev Genet 12, 378–379 (2011). https://doi.org/10.1038/nrg3011
Published:
Issue Date:
DOI: https://doi.org/10.1038/nrg3011
This article is cited by
-
Settling the score: variant prioritization and Mendelian disease
Nature Reviews Genetics (2017)
-
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene
Nature Genetics (2013)
-
Mutation (variation) databases and registries: a rationale for coordination of efforts
Nature Reviews Genetics (2011)
-
Response to 'Mutation (variation) databases and registries: a rationale for coordination of efforts': an IRDiRC perspective
Nature Reviews Genetics (2011)
