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Journal article
SOD1-ALS-Browser: a web-utility for investigating the clinical phenotype in SOD1 amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis and frontotemporal degeneration, Vol.24(7-8), pp.736-745
2023
Abstract
Objective
Variants in the superoxide dismutase (SOD1) gene are among the most common genetic causes of amyotrophic lateral sclerosis. Reflecting the wide spectrum of putatively deleterious variants that have been reported to date, it has become clear that SOD1-linked ALS presents a highly variable age at symptom onset and disease duration.
Methods
Here we describe an open access web tool for comparative phenotype analysis in ALS: https://sod1-als-browser.rosalind.kcl.ac.uk/. The tool contains a built-in dataset of clinical information from 1383 people with ALS harboring a SOD1 variant resulting in one of 162 unique amino acid sequence alterations and from a non-SOD1 comparator ALS cohort of 13,469 individuals. We present two examples of analyses possible with this tool, testing how the ALS phenotype relates to SOD1 variants that alter amino acid residue hydrophobicity and to distinct variants at the 94th residue of SOD1, where six are sampled.
Results and conclusions
The tool provides immediate access to the datasets and enables bespoke analysis of phenotypic trends associated with different protein variants, including the option for users to upload their own datasets for integration with the server data. The tool can be used to study SOD1-ALS and provides an analytical framework to study the differences between other user-uploaded ALS groups and our large reference database of SOD1 and non-SOD1 ALS. The tool is designed to be useful for clinicians and researchers, including those without programming expertise, and is highly flexible in the analyses that can be conducted.
Details
- Title
- SOD1-ALS-Browser: a web-utility for investigating the clinical phenotype in SOD1 amyotrophic lateral sclerosis
- Authors/Creators
- Thomas P Spargo - King's College LondonSarah Opie-Martin - King's College LondonGuy P Hunt - King's College LondonMunishikha Kalia - King's College LondonAhmad Al Khleifat - King's College LondonSimon D Topp - King's College LondonChristopher E Shaw - King's College LondonAmmar Al-Chalabi - King's College LondonAlfredo Iacoangeli - King's College LondonThe Project Mine ALS Sequencing Consortium
- Publication Details
- Amyotrophic lateral sclerosis and frontotemporal degeneration, Vol.24(7-8), pp.736-745
- Publisher
- Informa UK Limited, trading as Taylor & Francis Group
- Identifiers
- 991005599069407891
- Copyright
- 2023 The Author(s).
- Murdoch Affiliation
- Centre for Molecular Medicine and Innovative Therapeutics
- Language
- English
- Resource Type
- Journal article
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- Collaboration types
- Domestic collaboration
- International collaboration
- Citation topics
- 1 Clinical & Life Sciences
- 1.52 Neurodegenerative Diseases
- 1.52.765 ALS Mechanisms
- Web Of Science research areas
- Clinical Neurology
- ESI research areas
- Neuroscience & Behavior