ALSoD: A user-friendly online bioinformatics tool for amyotrophic lateral sclerosis genetics

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ALSoD : A user-friendly online bioinformatics tool for amyotrophic lateral sclerosis genetics

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.

Powell, John F. (författare)
Andersen, Peter M.Umeå universitet,Klinisk neurovetenskap(Swepub:umu)pean0001 (författare)
Al-Chalabi, Ammar (författare)
Umeå universitetKlinisk neurovetenskap (creator_code:org_t)

Ingår i:Human MutationHoboken, NJ : Wiley-Blackwell33:9, s. 1345-13511059-77941098-1004

Av författaren/redakt...: Abel, Olubunmi; Powell, John F.; Andersen, Peter ...; Al-Chalabi, Amma ...

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