ArticleHuman mutation2008
Prediction and assessment of splicing alterations: implications for clinical testing.
Article in Human mutation, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 58 papers.
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Who cites it
58 citing papers in PubMed.
- Exploring the promoter regions of cancer predisposition genes in patients with triple-negative breast cancer reveals the presence of rare germline variants.The oncologist · 2025Article
- Solving Missing Heritability in Patients With Familial Adenomatous Polyposis With DNA-RNA Paired Testing.JCO precision oncology · 2024Article
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- Genome interpretation using in silico predictors of variant impact.Human genetics · 2022Review
- Splicing analyses for variants in MMR genes: best practice recommendations from the European Mismatch Repair Working Group.European journal of human genetics : EJHG · 2022Article
- Article
- Article
- Novel de novoCold Spring Harbor molecular case studies · 2020Article
- Full-length transcript amplification and sequencing as universal method to test mRNA integrity and biallelic expression in mismatch repair genes.European journal of human genetics : EJHG · 2019Article
- Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing.Human mutation · 2019Article
- Targeted RNA-seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes.International journal of cancer · 2019Article
- Minigene Splicing Assays Identify 12 Spliceogenic Variants ofFrontiers in genetics · 2019Article
- Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome.American journal of human genetics · 2018Article
- Non-Coding Variants inCancers · 2018Review
- Implication of non-coding PAX6 mutations in aniridia.Human genetics · 2018Article
- RNA analysis of cancer predisposing genes in formalin-fixed paraffin-embedded tissue determines aberrant splicing.European journal of human genetics : EJHG · 2018Article
- Nanopore sequencing of full-length BRCA1 mRNA transcripts reveals co-occurrence of known exon skipping events.Breast cancer research : BCR · 2017Article
- Functional analysis by minigene assay of putative splicing variants found in Bardet-Biedl syndrome patients.Journal of cellular and molecular medicine · 2017Article
- Article
- Mutations of Pre-mRNA Splicing Regulatory Elements: Are Predictions Moving Forward to Clinical Diagnostics?International journal of molecular sciences · 2017Review
Corrections and comments
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Authors and funding
6 authors.
Funding
Abstract
Sequence variants that may result in splicing alterations are a particular class of inherited variants for which consequences can be more readily assessed, using a combination of bioinformatic prediction methods and in vitro assays. There is also a general agreement that a variant would invariably be considered pathogenic on the basis of convincing evidence that it results in transcript(s) carrying a premature stop codon or an in-frame deletion disrupting known functional domain(s). This commentary discusses current practices used to assess the clinical significance of this class of variants, provides suggestions to improve assessment, and highlights the issues involved in routine assessment of potential splicing aberrations. We conclude that classification of sequence variants that may alter splicing is greatly enhanced by supporting in vitro analysis. Additional studies that assess large numbers of variants for induction of splicing aberrations and exon skipping are needed to define the contribution of splicing/exon skipping to cancer and disease. These studies will also provide the impetus for development of algorithms that better predict splicing patterns. To facilitate variant classification and development of more specific bioinformatic tools, we call for the deposition of all laboratory data from splicing analyses into national and international databases.
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Registered trials
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