ArticleFrontiers in genetics2018
Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations?
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In one paragraph
Article in Frontiers in genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers.
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0cells of the map it votes in
43citing papers in PubMed
3.4field-weighted citation impact, top 6% of its field
What it found
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Who cites it
43 citing papers in PubMed, 64 citations in OpenAlex.
- Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing.The Journal of clinical investigation · 2021Trial
- Characterization of Ocular Developmental Disorders in the Israeli Population: Genotype-Phenotype Correlations and Novel Candidate Genes.Biomolecules · 2026Article
- Experimental Mis-Splicing Assessment and ACMG/AMP-Guided Classification of 47International journal of molecular sciences · 2026Article
- Investigation of GSDME results in the identification of the first pathogenic synonymous variants and genotype-phenotype correlations.Human genetics · 2025Article
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- Biallelic null variants in C19orf44 cause a unique late-onset retinal dystrophy phenotype characterized by patchy perifoveal chorioretinal atrophy.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- A novel splice-altering TNC variant (c.5247A > T, p.Gly1749Gly) in an Chinese family with autosomal dominant non-syndromic hearing loss.BMC medical genomics · 2024Article
- Benchmarking splice variant prediction algorithms using massively parallel splicing assays.Genome biology · 2023Article
- Long noncoding RNA study: Genome-wide approaches.Genes & diseases · 2023Review
- Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup.American journal of human genetics · 2023Article
- In silico methods for predicting functional synonymous variants.Genome biology · 2023Review
- Benchmarking splice variant prediction algorithms using massively parallel splicing assays.bioRxiv : the preprint server for biology · 2023Article
- APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.medRxiv : the preprint server for health sciences · 2023Article
- VariBench, new variation benchmark categories and data sets.Frontiers in bioinformatics · 2023Article
- Splicing Analysis of 16Cancers · 2022Article
- Splicing analyses for variants in MMR genes: best practice recommendations from the European Mismatch Repair Working Group.European journal of human genetics : EJHG · 2022Article
- Minigene-based splicing analysis and ACMG/AMP-based tentative classification of 56 ATM variants.The Journal of pathology · 2022Article
- Article
- RNA Sequencing for Elucidating an Intronic Variant of Uncertain Significance (Annals of laboratory medicine · 2022Article
- Case Review: Whole-Exome Sequencing Analyses Identify Carriers of a Known Likely Pathogenic IntronicGenes · 2022Article
Corrections and comments
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Authors and funding
20 authors at 9 institutions in 1 country.
Alejandro Moles-FernándezOncogenetics Group, Vall d'Hebron Institute of Oncology, Barcelona, Spain.
Laura Duran-LozanoOncogenetics Group, Vall d'Hebron Institute of Oncology, Barcelona, Spain.
Gemma MontalbanOncogenetics Group, Vall d'Hebron Institute of Oncology, Barcelona, Spain.
Sandra BonacheOncogenetics Group, Vall d'Hebron Institute of Oncology, Barcelona, Spain.
Irene López-PerolioLaboratorio de Oncología Molecular - Centro de Investigación Biomédica en Red de Cancer, Instituto de Investigación Sanitaria San Carlos, Hospital Clínico San Carlos, Madrid, Spain.
Mireia MenéndezHereditary Cancer Program, Catalan Institute of Oncology, Institut d'Investigació Biomédica de Bellvitge, Hospitalet de Llobregat, Barcelona, Spain.
Marta SantamariñaGrupo de Medicina Xenómica-USC, Fundación Pública Galega de Medicina Xenómica-SERGAS, CIBER de Enfermedades Raras, Instituto de Investigación Sanitaria, Santiago de Compostela, Spain.
Raquel BeharLaboratorio de Oncología Molecular - Centro de Investigación Biomédica en Red de Cancer, Instituto de Investigación Sanitaria San Carlos, Hospital Clínico San Carlos, Madrid, Spain.
Ana BlancoGrupo de Medicina Xenómica-USC, Fundación Pública Galega de Medicina Xenómica-SERGAS, CIBER de Enfermedades Raras, Instituto de Investigación Sanitaria, Santiago de Compostela, Spain.
Estela CarrascoHigh Risk and Cancer Prevention Group, Vall d'Hebron Institute of Oncology, Barcelona, Spain.
Adrià López-FernándezHigh Risk and Cancer Prevention Group, Vall d'Hebron Institute of Oncology, Barcelona, Spain.
Neda StjepanovicHigh Risk and Cancer Prevention Group, Vall d'Hebron Institute of Oncology, Barcelona, Spain.
Judith BalmañaHigh Risk and Cancer Prevention Group, Vall d'Hebron Institute of Oncology, Barcelona, Spain.
Gabriel CapelláHereditary Cancer Program, Catalan Institute of Oncology, Institut d'Investigació Biomédica de Bellvitge, Hospitalet de Llobregat, Barcelona, Spain.
Marta PinedaHereditary Cancer Program, Catalan Institute of Oncology, Institut d'Investigació Biomédica de Bellvitge, Hospitalet de Llobregat, Barcelona, Spain.
Ana VegaGrupo de Medicina Xenómica-USC, Fundación Pública Galega de Medicina Xenómica-SERGAS, CIBER de Enfermedades Raras, Instituto de Investigación Sanitaria, Santiago de Compostela, Spain.
Conxi LázaroHereditary Cancer Program, Catalan Institute of Oncology, Institut d'Investigació Biomédica de Bellvitge, Hospitalet de Llobregat, Barcelona, Spain.
Miguel de la HoyaLaboratorio de Oncología Molecular - Centro de Investigación Biomédica en Red de Cancer, Instituto de Investigación Sanitaria San Carlos, Hospital Clínico San Carlos, Madrid, Spain.
Orland DiezOncogenetics Group, Vall d'Hebron Institute of Oncology, Barcelona, Spain.
Sara Gutiérrez-EnríquezOncogenetics Group, Vall d'Hebron Institute of Oncology, Barcelona, Spain.
Vall d'Hebron Institute of OncologyInstitut d'Investigació Biomédica de Bellvitge · ESCentro de Investigación Biomédica en Red de Cáncer · ESVall d'Hebron Hospital Universitari · ESCentro de Investigación Biomédica en Red · ESFundación Pública Galega de Medicina Xenómica · ESInstitut Català d'Oncologia · ESInstituto de Investigación Sanitaria del Hospital Clínico San Carlos · ESServicio Gallego de Salud · ES
Funding
No grant is acknowledged in the PubMed record.
Abstract
PubMed holds no abstract for this paper.
Indexed as
hereditary cancer genesin silico toolsNGS of gene-panelRNA alterationsplicingVUS classification
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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.