Both authors contributed equally.
Databases
You have full text access to this OnlineOpen article
LOVD v.2.0: the next generation in gene variant databases†
Article first published online: 22 FEB 2011
DOI: 10.1002/humu.21438
© 2011 Wiley-Liss, Inc.
Issue

Human Mutation
Special Issue: Bioinformatics for Human Genetics: Promises and Challenges, A Human Variome Project Special Issue
Volume 32, Issue 5, pages 557–563, May 2011
Additional Information
How to Cite
Fokkema, I. F. A. C., Taschner, P. E. M., Schaafsma, G. C. P., Celli, J., Laros, J. F. J. and den Dunnen, J. T. (2011), LOVD v.2.0: the next generation in gene variant databases. Hum. Mutat., 32: 557–563. doi: 10.1002/humu.21438
- †
For the HVP Bioinformatics Special Issue
Publication History
- Issue published online: 21 APR 2011
- Article first published online: 22 FEB 2011
- Accepted manuscript online: 25 JAN 2011 02:56PM EST
- Manuscript Accepted: 14 DEC 2010
- Manuscript Received: 12 OCT 2010
Funded by
- The European Community's Seventh Framework Programme. Grant Number: FP7/2007-2013 under grant agreement no. 200754—the GEN2PHEN project
- Re-use of this article is permitted in accordance with the Terms and Conditions set out at [http://wileyonlinelibrary.com/author resources/onlineopen.html]
Cited in:
- CrossRef
This article has been cited by:
- You have free access to this content1, , , , , Curating gene variant databases (LSDBs): Toward a universal standard, Human Mutation, 2012, 33, 2Direct Link:
- 2, , , , , , , , DIVERGENOME: A Bioinformatics Platform to Assist Population Genetics and Genetic Epidemiology Studies, Genetic Epidemiology, 2012, 36, 4Direct Link:
- 3, , , , , , , , , , , , , , , , , Germline BRCA1 mutations increase prostate cancer risk, British Journal of Cancer, 2012, 106, 10, 1697
- You have free access to this content4, , , , Guidelines for establishing locus specific databases, Human Mutation, 2012, 33, 2Direct Link:
- 5, , , , , , , , Novel pathogenic mutations in the glucocerebrosidase locus, Molecular Genetics and Metabolism, 2012,
- You have free access to this content6, , , , , , , , , , , , , Observ-OM and Observ-TAB: Universal syntax solutions for the integration, search, and exchange of phenotype and genotype information, Human Mutation, 2012, 33, 5Direct Link:
- You have free access to this content7, , , , , The androgen receptor gene mutations database: 2012 update, Human Mutation, 2012, 33, 5Direct Link:
- 8
- 9, , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database, Human Mutation, 2012, 33, 3Direct Link:
- 10, , , , A formalized description of the standard human variant nomenclature in Extended Backus-Naur Form, BMC Bioinformatics, 2011, 12, Suppl 4, S5
- 11, , , , , , , A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K, Orphanet Journal of Rare Diseases, 2011, 6, 1, 87
- You have free access to this content12, , Bioinformatics for Human Genetics: Promises and Challenges, Human Mutation, 2011, 32, 5Direct Link:
- 13, , , , , , , , , , , Clarity and claims in variation/mutation databasing, Nature Biotechnology, 2011, 29, 9, 790
- 14, , , , , , , , , , , The BRCA2 c.9004G>A (E2003K) variant is likely pathogenic and recurs in breast and/or ovarian cancer families of French Canadian descent, Breast Cancer Research and Treatment, 2011, 131, 1, 333
- 15, , , UASIS: Universal Automatic SNP Identification System, BMC Genomics, 2011, 12, Suppl 3, S9
- 16, , , WAVe: web analysis of the variome, Human Mutation, 2011, 32, 7Direct Link:
- 17, , , , , , , , , , , , , , , , Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with leber congenital amaurosis, Human Mutation, 2011, 32, 12Direct Link:

1098-1004/asset/HUMU_left.gif?v=1&s=4065e12063da1c0efe3c1a74d4f13c3cd92fba18)
1098-1004/asset/HUMU_right.gif?v=1&s=58026811b6aa5bee5a3d0e0563a705f8b681f34d)