ArticleScience (New York, N.Y.)2015
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
Article in Science (New York, N.Y.), 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 628 papers, 3 of them syntheses 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
628 citing papers in PubMed, 3 syntheses or guidelines pooled it, 1,287 citations in OpenAlex.
- Polymorphisms of long non-coding RNA HOTAIR and susceptibility to gastrointestinal cancers: A meta-analysis.Medicine · 2026Pooled it
- Deep learning approaches for resolving genomic discrepancies in cancer: a systematic review and clinical perspective.Briefings in bioinformatics · 2025Pooled it
- Opportunities and challenges with artificial intelligence in allergy and immunology: a bibliometric study.Frontiers in medicine · 2025Pooled it
- Article
- engGNN: a dual-graph neural network for omics-based disease classification and feature selection.Briefings in bioinformatics · 2026Article
- RNA splicing in health and disease.Molecular biomedicine · 2026Review
- Tools and tactics for studying alternative splicing.Nature reviews. Genetics · 2026Review
- Article
- Advances and challenges of splicing prediction with AI.Nature genetics · 2026Review
- Transcriptome Reprogramming in Heart Failure: The Hidden Splicing Code.Current cardiology reports · 2026Review
- The emerging roles of alternative splicing in modulating tumor immune responses and immunotherapies.Cell death and differentiation · 2026Review
- Molecular Genetic and Biochemical Characterization of Hyperphenylalaninemia Based on Expanded Neonatal Screening Data from 2023 to 2024 in the Russian Federation.International journal of molecular sciences · 2026Article
- Improving splice site usage prediction with SPLAIRE.bioRxiv : the preprint server for biology · 2026Article
- Cleidocranial dysplasia caused by a novel de novo RUNX2 splice-site variant.Human genome variation · 2026Article
- Article
- DeepSAP: improved RNA-seq alignment by integrating transcriptome guidance with transformer-based splice junction scoring.Genome biology · 2026Article
- Comprehensive review and assessment of multi-species splicing variant prediction: task-specific deep learning models and genomic foundation models.Briefings in bioinformatics · 2026Review
- Haplotype-Based Analysis of OCA2 Variants in Oculocutaneous Albinism.Pigment cell & melanoma research · 2026Article
- Variant-resolved prediction of context-specific isoform variation with a graph-based attention model.Cell genomics · 2026Article
- The genomic medicine center Karolinska 10-year report on genome sequencing for rare diseases and a strategy for stepwise clinical implementation.Genome medicine · 2026Article
568 more citing papers are in PubMed but not listed here.
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Authors and funding
17 authors at 2 institutions in 2 countries.
Funding
Abstract
To facilitate precision medicine and whole-genome annotation, we developed a machine-learning technique that scores how strongly genetic variants affect RNA splicing, whose alteration contributes to many diseases. Analysis of more than 650,000 intronic and exonic variants revealed widespread patterns of mutation-driven aberrant splicing. Intronic disease mutations that are more than 30 nucleotides from any splice site alter splicing nine times as often as common variants, and missense exonic disease mutations that have the least impact on protein function are five times as likely as others to alter splicing. We detected tens of thousands of disease-causing mutations, including those involved in cancers and spinal muscular atrophy. Examination of intronic and exonic variants found using whole-genome sequencing of individuals with autism revealed misspliced genes with neurodevelopmental phenotypes. Our approach provides evidence for causal variants and should enable new discoveries in precision medicine.
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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.