The DOI matches its Crossref record; 28 of the 28 references it cites were found in a registry or an index.
ALSoD: A user-friendly online bioinformatics tool for amyotrophic lateral sclerosis genetics
Open accessAbstract
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.
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Cited by
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Self-citationNguyen, P. H., Ramamoorthy, A., Sahoo, B. R., Zheng, J., Faller, P., Straub, J. E., Dominguez, L., Shea, J.-E., Dokholyan, N. V., De Simone, A., et al. (2021) · Chemical Reviews · doi:10.1021/acs.chemrev.0c01122 · Cited by 678
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Self-citationThe role of mitochondria in amyotrophic lateral sclerosis
Smith, E. F., Shaw, P. J., & De Vos, K. J. (2019) · Neuroscience Letters · doi:10.1016/j.neulet.2017.06.052 · Cited by 559
Metadata
- Authors
- Abel, O., Powell, J. F., Andersen, P. M., & Al-Chalabi, A.
- Venue
- Human Mutation
- Publisher
- Hindawi Limited
- Published
- 2012-07-16
- Volume
- 33
- Issue
- 9
- Pages
- 1345-1351
- ISSN
- 1059-7794 (ISSN-L)
- OpenAlex
- W2008213051
- Cited by
- 337
- References
- 28
- FWCI
- 11.40
- Type
- journal article
- Language
- en
- Open access
- bronze
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