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ALSoD: A user-friendly online bioinformatics tool for amyotrophic lateral sclerosis genetics
Umeå universitet, Medicinska fakulteten, Institutionen för farmakologi och klinisk neurovetenskap, Klinisk neurovetenskap.
2012 (engelsk)Inngår i: Human Mutation, ISSN 1059-7794, E-ISSN 1098-1004, Vol. 33, nr 9, s. 1345-1351Artikkel i tidsskrift (Fagfellevurdert) Published
Abstract [en]

Amyotrophic lateral sclerosis (ALS) is the commonest adult onset motor neuron disease, with a peak age of onset in the seventh decade. With advances in genetic technology, there is an enormous increase in the volume of genetic data produced, and a corresponding need for storage, analysis, and interpretation, particularly as our understanding of the relationships between genotype and phenotype mature. Here, we present a system to enable this in the form of the ALS Online Database (ALSoD at http://alsod.iop.kcl.ac.uk), a freely available database that has been transformed from a single gene storage facility recording mutations in the SOD1 gene to a multigene ALS bioinformatics repository and analytical instrument combining genotype, phenotype, and geographical information with associated analysis tools. These include a comparison tool to evaluate genes side by side or jointly with user configurable features, a pathogenicity prediction tool using a combination of computational approaches to distinguish variants with nonfunctional characteristics from disease-associated mutations with more dangerous consequences, and a credibility tool to enable ALS researchers to objectively assess the evidence for gene causation in ALS. Furthermore, integration of external tools, systems for feedback, annotation by users, and two-way links to collaborators hosting complementary databases further enhance the functionality of ALSoD. Hum Mutat 33:1345-1351, 2012. (c) 2012 Wiley Periodicals, Inc.

sted, utgiver, år, opplag, sider
Hoboken, NJ: Wiley-Blackwell, 2012. Vol. 33, nr 9, s. 1345-1351
Emneord [en]
ALSoD, amyotrophic lateral sclerosis, Web-bases, database, genetics, motor neuron disease
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Identifikatorer
URN: urn:nbn:se:umu:diva-60064DOI: 10.1002/humu.22157ISI: 000307500400006OAI: oai:DiVA.org:umu-60064DiVA, id: diva2:559436
Tilgjengelig fra: 2012-10-09 Laget: 2012-10-01 Sist oppdatert: 2018-06-08bibliografisk kontrollert

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