ReviewComputational and structural biotechnology journal2021
Alternative splicing: Human disease and quantitative analysis from high-throughput sequencing.
Review in Computational and structural biotechnology journal, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 96 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
96 citing papers in PubMed, 1 synthesis or guideline pooled it, 139 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
- RNA splicing and cardiovascular disease: a guide for cardiologists.European heart journal · 2026Review
- Genome-Wide Analysis of Alternative Splicing Identifies a Prognostic Signature in ER-Positive Breast Cancer.Genes · 2026Article
- Transcript isoform switching during embryonic and post-hatch development of broiler breast muscle.Poultry science · 2026Article
- Aryl hydrocarbon receptor orchestrates transcriptomic, non-coding and splicing programs that drive human lung epithelial responses to vaporized cannabis in vitro.Archives of toxicology · 2026Article
- Arginine Methylation in Alternative Splicing: Implications for Cancer Therapy.Journal of cellular physiology · 2026Review
- Genome-wide investigation of differentially expressed alternative splicing and RNA-binding protein genes association with AML drug resistance.Discover oncology · 2026Article
- The impact of read depth and read length on RNA-seq splicing analysis.RNA (New York, N.Y.) · 2026Article
- Molecular Diversity and Functional Implications of Mammalian Choline Acetyltransferases in Neuronal and Non-Neuronal Cells.International journal of molecular sciences · 2026Review
- Population-scale interpretation of RNA isoform diversity enabled by Isopedia.bioRxiv : the preprint server for biology · 2026Article
- Identification and In Silico Characterization of an Alternatively Spliced Novel Transcript of Human DDR2 Gene.Cell biochemistry and biophysics · 2026Article
- SASdb: a comprehensive database for sex-biased alternative splicing profiles in human tissues.Biology of sex differences · 2026Article
- Identification of Novel Alternative Transcripts of the Human ALKBH Gene Family and Investigation of Their Unique Expression Signatures in Cancer Cells.Current issues in molecular biology · 2026Article
- Dynamic Landscape of Alternative Splicing During Early Embryogenesis of the Rhesus Monkey.International journal of molecular sciences · 2026Article
- Multiomics analysis identifies the prognostic significance and biological roles of the HNRNP family in lung adenocarcinoma.Discover oncology · 2026Article
- The functional landscape of alternative splicing in hematopoietic lineage commitment.Nature communications · 2026Article
- Hypatia: Comparative Isoform Profiling Across Cell Populations from Long-Read Single-Cell Transcriptomes.bioRxiv : the preprint server for biology · 2026Article
- Controlled dynamic remodeling of the spliceosome active site enables the first step of splicing.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Long-Read Sequencing Reveals Cell- and State-Specific Alternative Splicing in 293T and A549 Cell Transcriptomes.International journal of molecular sciences · 2026Article
- Nonsense-mediated mRNA decay and associated splicing patterns in neurodevelopmental disorders.Frontiers in molecular biosciences · 2026Review
36 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Alternative splicing contributes to the majority of protein diversity in higher eukaryotes by allowing one gene to generate multiple distinct protein isoforms. It adds another regulation layer of gene expression. Up to 95% of human multi-exon genes undergo alternative splicing to encode proteins with different functions. Moreover, around 15% of human hereditary diseases and cancers are associated with alternative splicing. Regulation of alternative splicing is attributed to a set of delicate machineries interacting with each other in aid of important biological processes such as cell development and differentiation. Given the importance of alternative splicing events, their accurate mapping and quantification are paramount for downstream analysis, especially for associating disease with alternative splicing. However, deriving accurate isoform expression from high-throughput RNA-seq data remains a challenging task. In this mini-review, we aim to illustrate I) mechanisms and regulation of alternative splicing, II) alternative splicing associated human disease, III) computational tools for the quantification of isoforms and alternative splicing from RNA-seq.
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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.