ArticleHuman mutation2016
The SSV Evaluation System: A Tool to Prioritize Short Structural Variants for Studies of Possible Regulatory and Causal Variants.
Article in Human mutation, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed.
- Bioinformatics pipeline to guide post-GWAS studies in Alzheimer's: A new catalogue of disease candidate short structural variants.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2023Article
- Analysis of Structural Variants Previously Associated With ALS in Europeans Highlights Genomic Architectural Differences in Africans.Neurology. Genetics · 2023Article
- Intronic NEFH variant is associated with reduced risk for sporadic ALS and later age of disease onset.Scientific reports · 2022Article
- Bridging the gap: Short structural variants in the genetics of anorexia nervosa.The International journal of eating disorders · 2022Article
- Short structural variants as informative genetic markers for ALS disease risk and progression.BMC medicine · 2022Article
- Genetics of synucleins in neurodegenerative diseases.Acta neuropathologica · 2021Review
- NovelFrontiers in aging neuroscience · 2021Article
- Disease-modifying effects of anNeurology. Genetics · 2020Article
- Association of a structural variant within theNeurology. Genetics · 2020Article
- Structural Variants May Be a Source of Missing Heritability in sALS.Frontiers in neuroscience · 2020Article
- Toward deciphering the mechanistic role of variations in the Rep1 repeat site in the transcription regulation of SNCA gene.Neurogenetics · 2018Article
- Advancing Stem Cell Models of Alpha-Synuclein Gene Regulation in Neurodegenerative Disease.Frontiers in neuroscience · 2018Review
- Structural variants in SNCA gene and the implication to synucleinopathies.Current opinion in genetics & development · 2017Review
- Interpreting Gene Expression Effects of Disease-Associated Variants: A Lesson fromFrontiers in genetics · 2017Article
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Authors and funding
5 authors.
Funding
Abstract
Short structural variants (SSVs) are short genomic variants (<50 bp) other than SNPs. It has been suggested that SSVs contribute to many human complex traits. However, high-throughput analysis of SSVs presents numerous technical challenges. In order to facilitate the discovery and assessment of SSVs, we have developed a prototype bioinformatics tool, "SSV evaluation system," which is a searchable, annotated database of SSVs in the human genome, with associated customizable scoring software that is used to evaluate and prioritize SSVs that are most likely to have significant biological effects and impact on disease risk. This new bioinformatics tool is a component in a larger strategy that we have been using to discover potentially important SSVs within candidate genomic regions that have been identified in genome-wide association studies, with the goal to prioritize potential functional/causal SSVs and focus the follow-up experiments on a relatively small list of strong candidate SSVs. We describe our strategy and discuss how we have used the SSV evaluation system to discover candidate causal variants related to complex neurodegenerative diseases. We present the SSV evaluation system as a powerful tool to guide genetic investigations aiming to uncover SSVs that underlie human complex diseases including neurodegenerative diseases in aging.
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