ALSoD: A user‐friendly online bioinformatics tool for amyotrophic lateral sclerosis genetics
By O. Abel, J. Powell, P. Andersen, A. Al-Chalabi. Human Mutation, 2012
317 citations recorded by the source corpus.
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. © 2012 Wiley Periodicals, Inc.
Subfields: Genetics, Neurology
View Paper: https://www.semanticscholar.org/paper/48a3c8c0a27802dfdca150a77cfa9bcd51381378
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Citations in the corpus
- The STRING database in 2017: quality-controlled protein–protein association networks, made broadly accessible (2016, background): “suspected to be involved in Amyotrophic Lateral Sclerosis (55).”