ArticlePLoS genetics2012
Variants affecting exon skipping contribute to complex traits.
Article in PLoS genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers, 1 of them a synthesis that pooled it.
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Who cites it
41 citing papers in PubMed, 1 synthesis or guideline pooled it, 56 citations in OpenAlex.
- Meta-Analysis of Multiple Sclerosis Microarray Data Reveals Dysregulation in RNA Splicing Regulatory Genes.International journal of molecular sciences · 2015Pooled it
- Transcriptomic profiling of severe and critical COVID-19 patients reveals alterations in expression, splicing and polyadenylation.Scientific reports · 2025Article
- Neoantigen-based immunotherapy: advancing precision medicine in cancer and glioblastoma treatment through discovery and innovation.Exploration of targeted anti-tumor therapy · 2025Review
- Evaluating the Contribution of Cell Type-Specific Alternative Splicing to Variation in Lipid Levels.Circulation. Genomic and precision medicine · 2023Article
- Alternative Splicing Regulation of Low-Frequency Genetic Variants in Exon 2 ofInternational journal of molecular sciences · 2021Article
- Induction of cryptic pre-mRNA splice-switching by antisense oligonucleotides.Scientific reports · 2021Article
- The etiology of Down syndrome: Maternal MCM9 polymorphisms increase risk of reduced recombination and nondisjunction of chromosome 21 during meiosis I within oocyte.PLoS genetics · 2021Article
- Alternative Splicing Regulation of an Alzheimer's Risk Variant in CLU.International journal of molecular sciences · 2020Article
- eDiVA-Classification and prioritization of pathogenic variants for clinical diagnostics.Human mutation · 2019Article
- Identification of exon skipping events associated with Alzheimer's disease in the human hippocampus.BMC medical genomics · 2019Article
- Rare variants in the splicing regulatory elements of EXOC3L4 are associated with brain glucose metabolism in Alzheimer's disease.BMC medical genomics · 2018Article
- CAS-viewer: web-based tool for splicing-guided integrative analysis of multi-omics cancer data.BMC medical genomics · 2018Article
- Whole genome sequence study of cannabis dependence in two independent cohorts.Addiction biology · 2018Article
- Mono-ADP-Ribosylhydrolase MACROD2 Is Dispensable for Murine Responses to Metabolic and Genotoxic Insults.Frontiers in genetics · 2018Article
- A Pilot Study Investigating the Influence of Glucagon-Like Peptide-1 Receptor Single Nucleotide Polymorphisms on Gastric Emptying Rate in Caucasian Men.Frontiers in physiology · 2018Article
- Genetic variation affecting exon skipping contributes to brain structural atrophy in Alzheimer's disease.AMIA Joint Summits on Translational Science proceedings. AMIA Joint Summits on Translational Science · 2018Article
- Convergent downstream candidate mechanisms of independent intergenic polymorphisms between co-classified diseases implicate epistasis among noncoding elements.Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing · 2018Article
- Co-expression networks reveal the tissue-specific regulation of transcription and splicing.Genome research · 2017Article
- The awakening of the CDK10/Cyclin M protein kinase.Oncotarget · 2017Review
- Evidence of selection on splicing-associated loci in human populations and relevance to disease loci mapping.Scientific reports · 2017Article
Corrections and comments
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Authors and funding
8 authors at 4 institutions in 2 countries.
Funding
Abstract
DNA variants that affect alternative splicing and the relative quantities of different gene transcripts have been shown to be risk alleles for some Mendelian diseases. However, for complex traits characterized by a low odds ratio for any single contributing variant, very few studies have investigated the contribution of splicing variants. The overarching goal of this study is to discover and characterize the role that variants affecting alternative splicing may play in the genetic etiology of complex traits, which include a significant number of the common human diseases. Specifically, we hypothesize that single nucleotide polymorphisms (SNPs) in splicing regulatory elements can be characterized in silico to identify variants affecting splicing, and that these variants may contribute to the etiology of complex diseases as well as the inter-individual variability in the ratios of alternative transcripts. We leverage high-throughput expression profiling to 1) experimentally validate our in silico predictions of skipped exons and 2) characterize the molecular role of intronic genetic variations in alternative splicing events in the context of complex human traits and diseases. We propose that intronic SNPs play a role as genetic regulators within splicing regulatory elements and show that their associated exon skipping events can affect protein domains and structure. We find that SNPs we would predict to affect exon skipping are enriched among the set of SNPs reported to be associated with complex human traits.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.