Associated Papers
Precision in prediction: tailoring machine learning models for breast cancer missense variants pathogenicity prediction.
Ahmad RM et al.
Briefings in Bioinformatics, 2025
41263939 (PubMed )
Supplement: supplementary_materials_bbaf611_1_.zip › Supplementary_materials_bbaf611 › Supplementary_Table_S8.xlsx › Sheet1
Saturation genome editing-based clinical classification of BRCA2 variants.
Sahu S et al.
Nature, 2025
Functional evaluation and clinical classification of BRCA2 variants.
Huang H et al.
Nature, 2025
39779857 (PubMed )
Supplement: 41586_2024_8388_MOESM3_ESM.xlsx › Table_S4C
Saturation genome editing of 11 codons and exon 13 of BRCA2 coupled with chemotherapeutic drug response accurately determines pathogenicity of variants.
Sahu S et al.
Plos Genetics, 2023
BRCA1 and BRCA2 germline mutation analysis from a cohort of 1267 patients at high risk for breast cancer in Brazil.
Mazzonetto P et al.
Breast Cancer Research and Treatment, 2023
Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.
Keskin Karakoyun H et al.
Frontiers in Genetics, 2023
36896237 (PubMed )
Supplement: Table1.xlsx › clinvar_breastcancer_allvariant
A Comprehensive Evaluation of the Performance of Prediction Algorithms on Clinically Relevant Missense Variants.
Qorri E et al.
International Journal of Molecular Sciences, 2022
35887294 (PubMed )
Supplement: ijms-23-07946-s001.zip › Supplementary_Table_S4.xlsx › BRCA2_Dataset
An integrative model for the comprehensive classification of BRCA1 and BRCA2 variants of uncertain clinical significance.
Iversen ES et al.
Npj Genomic Medicine, 2022
35665744 (PubMed )
Supplement: 41525_2022_302_MOESM3_ESM.xlsx › BRCA2_inSilico_PCs___AGVGD
Variomes: a high recall search engine to support the curation of genomic variants.
Pasche E et al.
Bioinformatics (oxford, England), 2022
35274687 (PubMed )
Supplement: btac146_supplementary_data.pdf
A computational model for classification of BRCA2 variants using mouse embryonic stem cell-based functional assays.
Biswas K et al.
Npj Genomic Medicine, 2020
Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models.
Hart SN et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational Approaches.
Guidugli L et al.
American Journal of Human Genetics, 2018
Classifying Variants of Undetermined Significance in BRCA2 with protein likelihood ratios.
Karchin R et al.
Cancer Informatics, 2008
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