ReviewMethods and protocols2021
What's Wrong in a Jump? Prediction and Validation of Splice Site Variants.
Review in Methods and protocols, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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.
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Who cites it
24 citing papers in PubMed, 36 citations in OpenAlex.
- Tackling non-canonical splicing in arrhythmogenic cardiomyopathy to reduce the uncertain significance variants burden.Journal of translational medicine · 2026Article
- Functional analysis of a novel splice site variant of RAB3GAP2 in a fetus with congenital cataracts.BMC medical genomics · 2026Article
- RNA-sequencing based gene variants observed in patients with hyperlipidemia and premature coronary heart disease: A preliminary study.Biochemistry and biophysics reports · 2026Article
- Functional characterization of splice variants in hereditary breast and ovarian cancer susceptibility genes.Familial cancer · 2025Article
- Beyond the Exome: The Role of Noncoding and Regulatory Variants in Monogenic Diseases.Current issues in molecular biology · 2025Review
- Assessing the Functional Significance of Novel and Rare Variants of theInternational journal of molecular sciences · 2025Article
- Review
- Novel splice variants implicated in inherited retinal dystrophies in two Moroccan families.Molecular biology reports · 2025Article
- EHMT2 as a Candidate Gene for an Autosomal Recessive Neurodevelopmental Syndrome.Molecular neurobiology · 2025Article
- Case Report: Phenotypic and genetic characterization of a presumptive sporadic hypothalamic hamartoma in a standard Schnauzer dog.Frontiers in veterinary science · 2025Article
- Generation of Transcript Length Variants and Reprogramming of mRNA Splicing During Atherosclerosis Progression in ApoE-Deficient Mice.Biomedicines · 2024Article
- Review
- 7p22.3 microdeletion: a case study of a patient with congenital heart defect, neurodevelopmental delay and epilepsy.Orphanet journal of rare diseases · 2024Article
- The Effect of Alternative Splicing Sites on Mirtron Formation and Arm Selection of Precursor microRNAs.International journal of molecular sciences · 2024Article
- A Machine Learning Approach to Identify Potential miRNA-Gene Regulatory Network Contributing to the Pathogenesis of SARS-CoV-2 Infection.Biochemical genetics · 2024Article
- CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods.Genome biology · 2024Article
- Characterization and Engineered U1 snRNA Rescue of Splicing Variants in a Turkish Neurodevelopmental Disease Cohort.Human mutation · 2024Article
- In silico methods for predicting functional synonymous variants.Genome biology · 2023Review
- From gene to dose: Long-read sequencing and *-allele tools to refine phenotype predictions ofFrontiers in pharmacology · 2023Article
- Selection of Diagnostically Significant Regions of theInternational journal of molecular sciences · 2022Article
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
No grant is acknowledged in the PubMed record.
Abstract
Alternative splicing (AS) is a crucial process to enhance gene expression driving organism development. Interestingly, more than 95% of human genes undergo AS, producing multiple protein isoforms from the same transcript. Any alteration (e.g., nucleotide substitutions, insertions, and deletions) involving consensus splicing regulatory sequences in a specific gene may result in the production of aberrant and not properly working proteins. In this review, we introduce the key steps of splicing mechanism and describe all different types of genomic variants affecting this process (splicing variants in acceptor/donor sites or branch point or polypyrimidine tract, exonic, and deep intronic changes). Then, we provide an updated approach to improve splice variants detection. First, we review the main computational tools, including the recent Machine Learning-based algorithms, for the prediction of splice site variants, in order to characterize how a genomic variant interferes with splicing process. Next, we report the experimental methods to validate the predictive analyses are defined, distinguishing between methods testing RNA (transcriptomics analysis) or proteins (proteomics experiments). For both prediction and validation steps, benefits and weaknesses of each tool/procedure are accurately reported, as well as suggestions on which approaches are more suitable in diagnostic rather than in clinical research.
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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.