Associated Papers
Mapping multimodal phenotypes to perturbations in cells and tissue with CRISPRmap.
Gu J et al.
Nature Biotechnology, 2025
39375448 (PubMed )
Supplement: 41587_2024_2386_MOESM1_ESM.pdf
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_S4D
CRISPRmap: Sequencing-free optical pooled screens mapping multi-omic phenotypes in cells and tissue.
Gu J et al.
Biorxiv : the Preprint Server for Biology, 2023
38234835 (PubMed )
Supplement: media-5.xlsx › ClinVar_update_Dec2023
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
Cancer-causing BRCA2 missense mutations disrupt an intracellular protein assembly mechanism to disable genome maintenance.
Lee M et al.
Nucleic Acids Research, 2021
33978741 (PubMed )
Supplement: gkab308_supplemental_file.pdf
Strong functional data for pathogenicity or neutrality classify BRCA2 DNA-binding-domain variants of uncertain significance.
Richardson ME et al.
American Journal of Human Genetics, 2021
33609447 (PubMed )
Supplement: mmc2.xlsx › Sheet1
Prediction of the functional impact of missense variants in BRCA1 and BRCA2 with BRCA-ML.
Hart SN et al.
Npj Breast Cancer, 2020
32377563 (PubMed )
Supplement: 41523_2020_159_MOESM4_ESM.xlsx › Supplemental_Table_1
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Tian Y et al.
Scientific Reports, 2019
31484976 (PubMed )
Supplement: 41598_2019_49224_MOESM2_ESM.xlsx › Sheet1
Performance of in silico prediction tools for the classification of rare BRCA1/2 missense variants in clinical diagnostics.
Ernst C et al.
Bmc Medical Genomics, 2018
29580235 (PubMed )
Supplement: 12920_2018_353_MOESM1_ESM.xlsx › Classified_Variant_Set
A Bayesian framework for efficient and accurate variant prediction.
Qian D et al.
Plos One, 2018
30212499 (PubMed )
Supplement: pone.0203553.s008.xlsx › Variants
A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).
Lindor NM et al.
Human Mutation, 2012
Classification of missense substitutions in the BRCA genes: a database dedicated to Ex-UVs.
Vallée MP et al.
Human Mutation, 2012
A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes.
Hondow HL et al.
Bmc Cancer, 2011
21702907 (PubMed )
Supplement: 1471-2407-11-265-S5.XLS › Variants_in_targ._validation
Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance.
Chenevix-Trench G et al.
Cancer Research, 2006
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