The DOI matches its Crossref record; 11 of the 11 references it cites were found in a registry or an index.
LOVD: Easy creation of a locus-specific sequence variation database using an “LSDB-in-a-box” approach
Open accessAbstract
The completion of the human genome project has initiated, as well as provided the basis for, the collection and study of all sequence variation between individuals. Direct access to up-to-date information on sequence variation is currently provided most efficiently through web-based, gene-centered, locus-specific databases (LSDBs). We have developed the Leiden Open (source) Variation Database (LOVD) software approaching the "LSDB-in-a-Box" idea for the easy creation and maintenance of a fully web-based gene sequence variation database. LOVD is platform-independent and uses PHP and MySQL open source software only. The basic gene-centered and modular design of the database follows the recommendations of the Human Genome Variation Society (HGVS) and focuses on the collection and display of DNA sequence variations. With minimal effort, the LOVD platform is extendable with clinical data. The open set-up should both facilitate and promote functional extension with scripts written by the community. The LOVD software is freely available from the Leiden Muscular Dystrophy pages (www.DMD.nl/LOVD/). To promote the use of LOVD, we currently offer curators the possibility to set up an LSDB on our Leiden server.
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Cites
dbSNP: the NCBI database of genetic variation
Sherry, S. T. (2001) · Nucleic Acids Research · doi:10.1093/nar/29.1.308 · Cited by 7,502
Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders
Hamosh, A. (2004) · Nucleic Acids Research · doi:10.1093/nar/gki033 · Cited by 3,420
Human Gene Mutation Database (HGMD®): 2003 update: HGMD 2003 UPDATE
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Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion
Dunnen, J. T. D., & Antonarakis, S. E. (2000) · Human Mutation · doi:10.1002/(sici)1098-1004(200001)15:1<7::aid-humu4>3.0.co;2-n · Cited by 1,756
UMD (Universal Mutation Database): A generic software to build and analyze locus-specific databases
Béroud, C., Collod‐Béroud, G., Boileau, C., Soussi, T., & Junien, C. (2000) · Human Mutation · Cited by 228
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The challenge of documenting mutation across the genome: The human genome variation society approach
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Cited by
LOVD v.2.0: the next generation in gene variant databases
Fokkema, I. F. A. C., Taschner, P. E. M., Schaafsma, G. C. P., Celli, J., Laros, J. F. J., & den Dunnen, J. T. (2011) · Human Mutation · doi:10.1002/humu.21438 · Cited by 1,048
Self-citationThe ribosomal basis of diamond-blackfan anemia: mutation and database update
Boria, I., Garelli, E., Gazda, H. T., Aspesi, A., Quarello, P., Pavesi, E., Ferrante, D., Meerpohl, J. J., Kartal, M., Da Costa, L., et al. (2010) · Human Mutation · doi:10.1002/humu.21383 · Cited by 233
Mutation update for the PORCN gene
Lombardi, M. P., Bulk, S., Celli, J., Lampe, A., Gabbett, M. T., Ousager, L. B., van der Smagt, J. J., Soller, M., Stattin, E.-L., Mannens, M. A. M. M., et al. (2011) · Human Mutation · doi:10.1002/humu.21505 · Cited by 72
Mozaffari, M., Hoogeveen-Westerveld, M., Kwiatkowski, D., Sampson, J., Ekong, R., Povey, S., den Dunnen, J. T., van den Ouweland, A., Halley, D., & Nellist, M. (2009) · BMC Medical Genetics · doi:10.1186/1471-2350-10-88 · Cited by 36
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Metadata
- Authors
- Fokkema, I. F. A. C., den Dunnen, J. T., & Taschner, P. E. M.
- Venue
- Human Mutation
- Publisher
- Hindawi Limited
- Published
- 2005
- Volume
- 26
- Issue
- 2
- Pages
- 63-68
- ISSN
- 1059-7794 (ISSN-L)
- 1098-1004
- OpenAlex
- W2127846999
- Cited by
- 263
- References
- 11
- FWCI
- 7.23
- Type
- journal article
- Language
- en
- Open access
- bronze
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