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Recommendations for locus-specific databases and their curation

✍ Scribed by R.G.H. Cotton; A.D. Auerbach; J.S. Beckmann; O.O. Blumenfeld; A.J. Brookes; A.F. Brown; P. Carrera; D.W. Cox; B. Gottlieb; M.S. Greenblatt; P. Hilbert; H. Lehvaslaiho; P. Liang; S. Marsh; D.W. Nebert; S. Povey; S. Rossetti; C.R. Scriver; M. Summar; D.R. Tolan; I.C. Verma; M. Vihinen; J.T. den Dunnen


Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
135 KB
Volume
29
Category
Article
ISSN
1059-7794

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✦ Synopsis


Communicated by Mark H


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Information about genetic variation has been collected for some 20 years into registries, known as locus specific databases (LSDBs), which nowadays often contain information in addition to the actual genetic variation. Several issues have to be taken into account when considering establishing and ma

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## For the Mutation Pathogenicity Special Issue Locus-specific databases (LSDBs) are curated collections of sequence variants in genes associated with disease. LSDBs of cancer-related genes often serve as a critical resource to researchers, diagnostic laboratories, clinicians, and others in the can

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More than 1,000 Web-based locus-specific variation databases (LSDBs) are listed on the Website of the Human Genetic Variation Society (HGVS). These individual efforts, which often relate phenotype to genotype, are a valuable source of information for clinicians, patients, and their families, as well

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## Communicated by Alastair Brown Locus-specific databases (LSDBs) play an essential role in clinical care and research. They differ from traditional genetic databases in that they propose to place the mutations of ''anonymized'' patients directly on the World Wide Web. The proliferation of ethical