ArticleGenome biology2019
RegSNPs-intron: a computational framework for predicting pathogenic impact of intronic single nucleotide variants.
Article in Genome biology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers.
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Who cites it
45 citing papers in PubMed.
- Are head and neck versus abdominal paragangliomas driven by different single nucleotide events?Journal of applied genetics · 2026Article
- UK Biobank whole-genome sequencing reveals robust contributions of rare variants to complex-trait heritability.Genome biology · 2026Article
- Regulatory mechanisms driven by functional 3'-UTR variants in alcohol use disorder and related traits.Genome biology · 2026Article
- Elevated intron retention implicates neuroinflammation in brains of individuals with alcohol use disorder.Brain communications · 2026Article
- Revealing the genetic architectures underlying organ-specific aging based on proteomic data.Nature communications · 2025Article
- Predisposition of an Intronic Duplication in CHEK2 Gene in the Cases of Breast Cancer from Balochistan.Asian Pacific journal of cancer prevention : APJCP · 2025Article
- Excess of rare noncoding variants in several type 2 diabetes candidate genes among Asian Indian families.Communications medicine · 2025Article
- Identification of a prognostic signature based on immunogenic adverse event-related genes to guide therapy for non-small cell lung cancer.Frontiers in immunology · 2025Article
- Targeted Next-Generation Sequencing in Rare Diseases.Methods in molecular biology (Clifton, N.J.) · 2025Article
- A de novo ARIH2 gene mutation was detected in a patient with autism spectrum disorders and intellectual disability.Scientific reports · 2024Article
- Three candidate SNPs show associations with thyroid-stimulating hormone in euthyroid subjects: Tehran thyroid study.Journal of diabetes and metabolic disorders · 2024Article
- MC1R and age heteroclassification of face phenotypes in the Rio Grande do Sul population.International journal of legal medicine · 2024Article
- Article
- Detecting and understanding meaningful cancerous mutations based on computational models of mRNA splicing.NPJ systems biology and applications · 2024Article
- PTCH1 gene variants rs357564, rs2236405, rs2297086 and rs41313327, mRNA and tissue expression in basal cell carcinoma patients from Western Mexico.Journal of clinical laboratory analysis · 2024Article
- Genetic Variants at PRKCG Splice and UTR Sites Promote Cancer Susceptibility by Disrupting Epigenetic and miRNA Regulatory Network.Journal of Cancer · 2024Article
- Population health management genomic new-born screens and multi-omics intercepts.Frontiers in artificial intelligence · 2024Review
- Role ofDiagnostics (Basel, Switzerland) · 2023Article
- Intronic position +9 and -9 are potentially splicing sites boundary from intronic variants analysis of whole exome sequencing data.BMC medical genomics · 2023Article
- Functional characterization of human genomic variation linked to polygenic diseases.Trends in genetics : TIG · 2023Review
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Authors and funding
14 authors.
Funding
Abstract
Single nucleotide variants (SNVs) in intronic regions have yet to be systematically investigated for their disease-causing potential. Using known pathogenic and neutral intronic SNVs (iSNVs) as training data, we develop the RegSNPs-intron algorithm based on a random forest classifier that integrates RNA splicing, protein structure, and evolutionary conservation features. RegSNPs-intron showed excellent performance in evaluating the pathogenic impacts of iSNVs. Using a high-throughput functional reporter assay called ASSET-seq (ASsay for Splicing using ExonTrap and sequencing), we evaluate the impact of RegSNPs-intron predictions on splicing outcome. Together, RegSNPs-intron and ASSET-seq enable effective prioritization of iSNVs for disease pathogenesis.
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