ArticleCell genomics2023
The landscape of expression and alternative splicing variation across human traits.
Article in Cell genomics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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Who cites it
31 citing papers in PubMed.
- Chromatin topology and distal elements underlie divergent cell-type-specific regulation of 9p21 locus cell cycle genes.Cell genomics · 2026Article
- Single-cell full-length transcriptome of human lung reveals genetic effects on isoform regulation beyond gene-level expression.bioRxiv : the preprint server for biology · 2026Article
- Integrative Analysis of Alternative Splicing Regulation Reveals Genetic and RBP-Mediated Mechanisms in Endometriosis Pathogenesis.Reproductive sciences (Thousand Oaks, Calif.) · 2026Article
- Alternative splicing contributes to plasticity and regulatory divergence in locally adapted house mice from the Americas.Molecular biology and evolution · 2026Article
- Widespread naturally variable human exons aid genetic interpretation.Nature communications · 2025Article
- Tissue-specific isoform usage and gene expression revealed through RNA-seq and ATAC-seq in developing cattle.BMC genomics · 2025Article
- The implications of alternative splicing regulation for maximum lifespan.Nature communications · 2025Article
- SRSF12 is a primate-specific splicing factor that induces a tissue-specific gene expression program.Molecular biology of the cell · 2025Article
- Single-cell, multi-region profiling of the macaque brain across the lifespan.bioRxiv : the preprint server for biology · 2025Article
- The Implications of Alternative Splicing Regulation for Maximum Lifespan.bioRxiv : the preprint server for biology · 2025Article
- Sex-biased transcriptome in in vitro produced bovine early embryos.Cell & bioscience · 2025Article
- Orthrus: Towards Evolutionary and Functional RNA Foundation Models.bioRxiv : the preprint server for biology · 2025Article
- Analysis of sex-differential gene expression on the target of approved drug.Scientific reports · 2025Article
- The molecular impact of cigarette smoking resembles aging across tissues.Genome medicine · 2025Article
- Variant-to-function approaches for adipose tissue: Insights into cardiometabolic disorders.Cell genomics · 2025Review
- Clear-Cell Renal Cell Carcinoma Molecular Subtypes Differ by African and European Genetic Similarity.Cancer research communications · 2025Article
- Hyperuricaemia and gout in the Pacific.Nature reviews. Rheumatology · 2025Review
- ELLIPSIS: robust quantification of splicing in scRNA-seq.Bioinformatics (Oxford, England) · 2025Article
- Accelerated cell-type-specific regulatory evolution of the human brain.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- Profiling genetically driven alternative splicing across the Indonesian archipelago.American journal of human genetics · 2024Article
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Authors and funding
16 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Understanding the consequences of individual transcriptome variation is fundamental to deciphering human biology and disease. We implement a statistical framework to quantify the contributions of 21 individual traits as drivers of gene expression and alternative splicing variation across 46 human tissues and 781 individuals from the Genotype-Tissue Expression project. We demonstrate that ancestry, sex, age, and BMI make additive and tissue-specific contributions to expression variability, whereas interactions are rare. Variation in splicing is dominated by ancestry and is under genetic control in most tissues, with ribosomal proteins showing a strong enrichment of tissue-shared splicing events. Our analyses reveal a systemic contribution of types 1 and 2 diabetes to tissue transcriptome variation with the strongest signal in the nerve, where histopathology image analysis identifies novel genes related to diabetic neuropathy. Our multi-tissue and multi-trait approach provides an extensive characterization of the main drivers of human transcriptome variation in health and disease.
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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.