ReviewWiley interdisciplinary reviews. RNA
Genetic variation of pre-mRNA alternative splicing in human populations.
Review in Wiley interdisciplinary reviews. RNA. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
27 citing papers in PubMed, 1 synthesis or guideline pooled it, 57 citations in OpenAlex.
- Decoding the role of aberrant RNA alternative splicing in hepatocellular carcinoma: a comprehensive review.Journal of cancer research and clinical oncology · 2023Pooled it
- Methods for the Investigation of Protein-Ligands Interactions.Advances in experimental medicine and biology · 2026Review
- Unlocking the undruggable spliceosome: generative AI and structural dynamics in cancer therapy.Frontiers in cell and developmental biology · 2026Review
- Uncovering functional INDELs responsible for splice sites in sheep with different immune profiles naturally exposed to gastrointestinal nematode infection.Scientific reports · 2025Article
- IDeAS: an interactive database for dysregulated alternative splicing in cancers across Chinese and western patients.Journal of molecular cell biology · 2024Article
- Bridging the splicing gap in human genetics with long-read RNA sequencing: finding the protein isoform drivers of disease.Human molecular genetics · 2022Review
- RNA-seq in DMD urinary stem cells recognized muscle-related transcription signatures and addressed the identification of atypical mutations by whole-genome sequencing.HGG advances · 2022Article
- Splice Junction Identification using Long Short-Term Memory Neural Networks.Current genomics · 2021Article
- A splice acceptor variant in HLA-DRA affects the conformation and cellular localization of the class II DR alpha-chain.Immunology · 2021Article
- Serotonin system gene variants and regional brain volume differences in pediatric OCD.Brain imaging and behavior · 2020Article
- Detecting Allele-Specific Alternative Splicing from Population-Scale RNA-Seq Data.American journal of human genetics · 2020Article
- Full-Length Transcriptome Sequencing and the Discovery of New Transcripts in the Unfertilized Eggs of Zebrafish (G3 (Bethesda, Md.) · 2019Article
- Whole Transcriptome Profiling: An RNA-Seq Primer and Implications for Pharmacogenomics Research.Clinical and translational science · 2018Review
- The Expanding Landscape of Alternative Splicing Variation in Human Populations.American journal of human genetics · 2018Review
- Role of the alternative splice variant of NCC in blood pressure control.Channels (Austin, Tex.) · 2018Review
- Revealing the Determinants of Widespread Alternative Splicing Perturbation in Cancer.Cell reports · 2017Article
- Overcoming imatinib resistance conferred by theOncotarget · 2017Article
- Transcriptome profile of the human placenta.Functional & integrative genomics · 2017Article
- Sequence variation between 462 human individuals fine-tunes functional sites of RNA processing.Scientific reports · 2016Article
- "RADIOTRANSCRIPTOMICS": A synergy of imaging and transcriptomics in clinical assessment.Quantitative biology (Beijing, China) · 2016Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
The precise splicing outcome of a transcribed gene is controlled by complex interactions between cis regulatory splicing signals and trans-acting regulators. In higher eukaryotes, alternative splicing is a prevalent mechanism for generating transcriptome and proteome diversity. Alternative splicing can modulate gene function, affect organismal phenotype and cause disease. Common genetic variation that affects splicing regulation can lead to differences in alternative splicing between human individuals and consequently impact expression level or protein function. In several well-documented examples, such natural variation of alternative splicing has indeed been shown to influence disease susceptibility and drug response. With new microarray and sequencing-based genomic technologies that can analyze eukaryotic transcriptomes at the exon or nucleotide level, it has become possible to globally compare the alternative splicing profiles across human individuals in any tissue or cell type of interest. Recent large-scale transcriptome studies using high-density splicing-sensitive microarray and deep RNA sequencing (RNA-Seq) have revealed widespread genetic variation of alternative splicing in humans. In the future, an extensive catalog of alternative splicing variation in human populations will help elucidate the molecular underpinnings of complex traits and human diseases, and shed light on the mechanisms of splicing regulation in human cells.
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What OpenQuestion holds
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.