ArticleNature communications2021
Identification and analysis of splicing quantitative trait loci across multiple tissues in the human genome.
Article in Nature communications, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 109 papers.
What it found
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Who cites it
109 citing papers in PubMed, 162 citations in OpenAlex.
- Tools and tactics for studying alternative splicing.Nature reviews. Genetics · 2026Review
- Gene Expression and Alternative Splicing Regulate Phenotypic Plasticity of a Social Wasp.Ecology and evolution · 2026Article
- Mammalian aging involves genome-wide splicing degeneration leading to functional decline.bioRxiv : the preprint server for biology · 2026Article
- The contribution of short tandem repeats to splicing variation in the human cortex.bioRxiv : the preprint server for biology · 2026Article
- Pathogenicity prediction for noncanonical splice-altering variants based on multimodal feature fusion.Briefings in bioinformatics · 2026Article
- Identification and Characterization of sQTLs and eQTLs Associated with Growth Traits in Yellow-Feathered Broilers.Poultry science · 2026Article
- Long-read assembly reveals vast transcriptional complexity in the placenta associated with metabolic and endocrine function.Nature communications · 2026Article
- Integrative Multi-Omics Mendelian Randomization Highlights Causal Autophagy-Related Genes for Amyotrophic Lateral Sclerosis.Brain and behavior · 2026Article
- Genetic alternative splicing regulation mapping of cartilage and synovium reveals tissue-specific mechanisms of joint-related traits.Nature communications · 2026Article
- Full-length transcriptome atlas of porcine skeletal muscle reveals isoform-resolved genetic regulatory mechanisms for muscle growth.BMC genomics · 2026Article
- Integrated multi-omics and machine learning prioritize key immune genes for multiple sclerosis risk prediction.Mammalian genome : official journal of the International Mammalian Genome Society · 2026Article
- Elucidating the coordination of RNA processing using short-read and long-read RNA-sequencing methods.Nature reviews. Molecular cell biology · 2026Review
- Genome-Wide Association Study of Genetic Variants Associated with Serum Albumin Levels in Chinese Winter Sports Athletes.Biology · 2026Article
- Integrated analysis of GWAS and molQTLs reveals cell-specific genetic variants in the porcine immune system.Communications biology · 2026Article
- Expanded chromatin accessibility mapping explains genetic variation associated with complex traits in liver.American journal of human genetics · 2026Article
- Mendelian randomization study of GLP-1R effects on ovarian cancer subtypes mediated by metabolic factors.Communications medicine · 2026Article
- Analysis of chromatin structure reveals the connection between sQTLs and the splicing of distant genes.Scientific reports · 2025Article
- Widespread naturally variable human exons aid genetic interpretation.Nature communications · 2025Article
- Expanding the genetic landscape of endometriosis: Integrative -omics analyses implicate key genes and pathways in a multi-ancestry study of over one million women.Research square · 2025Article
- A deep dive into statistical modeling of RNA splicing QTLs reveals variants that explain neurodegenerative disease.American journal of human genetics · 2025Article
49 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
Abstract
Alternative splicing (AS) is a fundamental step in eukaryotic mRNA biogenesis. Here, we develop an efficient and reproducible pipeline for the discovery of genetic variants that affect AS (splicing QTLs, sQTLs). We use it to analyze the GTEx dataset, generating a comprehensive catalog of sQTLs in the human genome. Downstream analysis of this catalog provides insight into the mechanisms underlying splicing regulation. We report that a core set of sQTLs is shared across multiple tissues. sQTLs often target the global splicing pattern of genes, rather than individual splicing events. Many also affect the expression of the same or other genes, uncovering regulatory loci that act through different mechanisms. sQTLs tend to be located in post-transcriptionally spliced introns, which would function as hotspots for splicing regulation. While many variants affect splicing patterns by altering the sequence of splice sites, many more modify the binding sites of RNA-binding proteins. Genetic variants affecting splicing can have a stronger phenotypic impact than those affecting gene expression.
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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.