Communicated by Mark H. Paalman
Special Article
You have free access to this content
Recommendations for locus-specific databases and their curation†
Article first published online: 21 DEC 2007
DOI: 10.1002/humu.20650
© 2007 Wiley-Liss, Inc.
Additional Information
How to Cite
Cotton, R.G.H., Auerbach, A.D., Beckmann, J.S., Blumenfeld, O.O., Brookes, A.J., Brown, A.F., Carrera, P., Cox, D.W., Gottlieb, B., Greenblatt, M.S., Hilbert, P., Lehvaslaiho, H., Liang, P., Marsh, S., Nebert, D.W., Povey, S., Rossetti, S., Scriver, C.R., Summar, M., Tolan, D.R., Verma, I.C., Vihinen, M. and den Dunnen, J.T. (2008), Recommendations for locus-specific databases and their curation. Hum. Mutat., 29: 2–5. doi: 10.1002/humu.20650
- †
Publication History
- Issue published online: 21 DEC 2007
- Article first published online: 21 DEC 2007
- Manuscript Accepted: 20 AUG 2007
- Manuscript Received: 27 JUN 2007
Funded by
- National Health and Medical Research Council (NHMRC)
- Abstract
- References
- Cited By
Cited in:
- CrossRef
This article has been cited by:
- You have free access to this content1, , , , Guidelines for establishing locus specific databases, Human Mutation, 2012, 33, 2Direct Link:
- 2, , , , , , , , The COL7A1 mutation database, Human Mutation, 2012, 33, 2Direct Link:
- 3, , , , , , Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases, Nucleic Acids Research, 2011, 40, D1, D992
- You have free access to this content4, , , , , , , , DRUMS: A human disease related unique gene mutation search engine, Human Mutation, 2011, 32, 10Direct Link:
- 5, , , , Familial hypercholesterolemia: epidemiology, Neolithic origins and modern geographic distribution, Critical Reviews in Clinical Laboratory Sciences, 2011, 48, 1, 1
- 6, , , , , , LOVD v.2.0: the next generation in gene variant databases, Human Mutation, 2011, 32, 5Direct Link:
- 7, , , , , , , , , , , , , , , Banques de données de mutations : enjeux et perspectives pour les maladies génétiques orphelines, Pathologie Biologie, 2010, 58, 5, 387
- You have free access to this content8
- 9, , , , , , , , Development of NIPBL Locus-Specific Database Using LOVD: From Novel Mutations to Further Genotype–Phenotype Correlations in Cornelia de Lange Syndrome, Human Mutation, 2010, 31, 11Direct Link:
- You have free access to this content10, , , , , , , , , , , , , , , , , , , , , , , , , , , , How to catch all those mutations—the report of the Third Human Variome Project Meeting, UNESCO Paris, May 2010, Human Mutation, 2010, 31, 12Direct Link:
- 11, , The Human Phenotype Ontology, Clinical Genetics, 2010, 77, 6Direct Link:
- 12, , , , , , , , , UMD-CFTR: A database dedicated to CF and CFTR-related disorders, Human Mutation, 2010, 31, 9Direct Link:
- 13, , , , , , , , A1ATVar: a relational database of human SERPINA1 gene variants leading to α1-antitrypsin deficiency and application of the VariVis software, Human Mutation, 2009, 30, 3Direct Link:
- 14, , , , , , , , , , , , , , , , , , , , , , , Genotype–phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD–DMD database: a model of nationwide knowledgebase, Human Mutation, 2009, 30, 6Direct Link:
- 15, , Pathogenic or not? And if so, then how? Studying the effects of missense mutations using bioinformatics methods, Human Mutation, 2009, 30, 5Direct Link:
- You have free access to this content16, , , , , , , , , , Sharing data between LSDBs and central repositories, Human Mutation, 2009, 30, 4Direct Link:
- You have free access to this content17, , , , , , , , , , Locus-specific databases and recommendations to strengthen their contribution to the classification of variants in cancer susceptibility genes , Human Mutation, 2008, 29, 11Direct Link:
- You have free access to this content18, , , , , , , , , , Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results, Human Mutation, 2008, 29, 11Direct Link:

1098-1004/asset/HUMU_left.gif?v=1&s=4065e12063da1c0efe3c1a74d4f13c3cd92fba18)
1098-1004/asset/HUMU_right.gif?v=1&s=58026811b6aa5bee5a3d0e0563a705f8b681f34d)
1098-1004/asset/cover.gif?v=1&s=b02ab57a64d28403f477b09d50f72a4d63f4c8eb)