Associated Papers
Glioma genetic profiles associated with electrophysiologic hyperexcitability.
Tobochnik S et al.
Neuro-oncology, 2024
The Potential of Genetics in Identifying Women at Lower Risk of Breast Cancer.
Bolze A et al.
Jama Oncology, 2024
38153744 (PubMed )
Supplement: jamaoncol-e235468-s002.xlsx › eTable_4
Multi-gene panel testing and association analysis in Cypriot breast cancer cases and controls.
Zanti M et al.
Frontiers in Genetics, 2023
37790698 (PubMed )
Supplement: DataSheet1.xlsx › Table_S2
MARGINAL: An Automatic Classification of Variants in BRCA1 and BRCA2 Genes Using a Machine Learning Model.
Karalidou V et al.
Biomolecules, 2022
36358902 (PubMed )
Supplement: biomolecules-12-01552-s001.zip › final_annotation_file_CanVaS.xlsx › Sheet1
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
Consolidated BRCA1/2 Variant Interpretation by MH BRCA Correlates with Predicted PARP Inhibitor Efficacy Association by MH Guide.
Hirotsu Y et al.
International Journal of Molecular Sciences, 2020
32486089 (PubMed )
Supplement: ijms-21-03895-s001.zip › Supplemental_Table_2.xlsx › ARUP
Genomics of lethal prostate cancer at diagnosis and castration resistance.
Mateo J et al.
The Journal of Clinical Investigation, 2020
31874108 (PubMed )
Supplement: jci-130-132031-s100.xlsx › Sheet1
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
Toward automation of germline variant curation in clinical cancer genetics.
Ravichandran V et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
30787465 (PubMed )
Supplement: NIHMS1525468-supplement-Large_Excel_File.xlsx › Table_S6
A Bayesian framework for efficient and accurate variant prediction.
Qian D et al.
Plos One, 2018
30212499 (PubMed )
Supplement: pone.0203553.s008.xlsx › Variants
Evaluation of the Ion Torrent PGM sequencing workflow for the routine rapid detection of BRCA1 and BRCA2 germline mutations.
Zanella I et al.
Experimental and Molecular Pathology, 2017
Patterns and functional implications of rare germline variants across 12 cancer types.
Lu C et al.
Nature Communications, 2015
26689913 (PubMed )
Supplement: ncomms10086-s13.xlsx › supplementary_data_12
Functional assays for analysis of variants of uncertain significance in BRCA2.
Guidugli L et al.
Human Mutation, 2014
Effect of the expression of BRCA2 on spontaneous homologous recombination and DNA damage-induced nuclear foci in Saccharomyces cerevisiae.
Spugnesi L et al.
Mutagenesis, 2013
Effect of the overexpression of BRCA2 unclassified missense variants on spontaneous homologous recombination in human cells.
Balia C et al.
Breast Cancer Research and Treatment, 2011
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