Associated Papers
Characterization and functional analysis of BRCA1 and BRCA2 variants in a cohort of 100 unselected patients undergoing germline screening.
Shi Q et al.
Translational Oncology, 2025
40664060 (PubMed )
Supplement: mmc4.xlsx › Clinvar_BRCA1
SpliceAI-10k calculator for the prediction of pseudoexonization, intron retention, and exon deletion.
Canson DM et al.
Bioinformatics (oxford, England), 2023
37021934 (PubMed )
Supplement: btad179_supplementary_data.zip › SAI10kcalc_supp_tables_final.xlsx › S1.variants
APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.
Walker LC et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
36865205 (PubMed )
Supplement: media-10.xlsx › Table_S2
Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes.
Moles-Fernández A et al.
Cancers, 2021
34283047 (PubMed )
Supplement: cancers-13-03341-s001.zip › 2_Supplementary_table_S2A_2B.xlsx › Suppl_Table_2A
A plugin for the Ensembl Variant Effect Predictor that uses MaxEntScan to predict variant spliceogenicity.
Shamsani J et al.
Bioinformatics (oxford, England), 2019
30475984 (PubMed )
Supplement: bty960_supplementary_data.zip › bty960-Suppl_data › Supplementary_Table_S1.xlsx › Sheet1
Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations.
Martelotto LG et al.
Genome Biology, 2014
25348012 (PubMed )
Supplement: 13059_2014_484_MOESM2_ESM.xlsx › Additional_file_2
Impact of BRCA1 and BRCA2 variants on splicing: clues from an allelic imbalance study.
Caux-Moncoutier V et al.
European Journal of Human Genetics : Ejhg, 2009
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