Associated Papers
Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools.
Drost M et al.
Hgg Advances, 2026
40988334 (PubMed )
Supplement: mmc2.xlsx › Table_S1
Pathogenic variants reveal candidate genes for prostate cancer germline testing for men of African ancestry.
Gheybi K et al.
Nature Communications, 2025
Classification of Gene Variants in a Danish Population with Suspected Predisposition to Hereditary Breast and/or Ovarian Cancer.
Munch AK et al.
Cancers, 2025
40507299 (PubMed )
Supplement: cancers-17-01819-s001.zip › cancers-3594035-supplementary.pdf
Phenotypic evaluation of deep learning models for classifying germline variant pathogenicity.
Chow RD et al.
Npj Precision Oncology, 2024
39427061 (PubMed )
Supplement: 41698_2024_710_MOESM2_ESM.xlsx › S3
Prevalence and Reclassification of Genetic Variants in South African Populations with Breast Cancer.
Osler TS et al.
Genes, Chromosomes & Cancer, 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
Evaluating Germline Testing Panels in Southern African Males With Advanced Prostate Cancer.
Gheybi K et al.
Journal of the National Comprehensive Cancer Network : Jnccn, 2023
Frequency of germline genetic variants in women with a personal or family history of breast cancer from Brazil.
Pereira JZ et al.
Molecular Biology Reports, 2022
Germline sequence variants contributing to cancer susceptibility in South African breast cancer patients of African ancestry.
Eygelaar D et al.
Scientific Reports, 2022
Hereditary variants of unknown significance in African American women with breast cancer.
McDonald JT et al.
Plos One, 2022
36315513 (PubMed )
Supplement: pone.0273835.s001.xlsx › ConsensusScores
Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.
Reza MN et al.
Scientific Reports, 2021
34584144 (PubMed )
Supplement: 41598_2021_98547_MOESM1_ESM.zip › Supplementary_files-5-8-21 › Supplementary_file_2.xlsx › Sheet1
Alignment-free method for functional annotation of amino acid substitutions: Application on epigenetic factors involved in hematologic malignancies.
Gemović B et al.
Plos One, 2021
33395407 (PubMed )
Supplement: pone.0244948.s001.pdf
Screening of germline mutations in young Rwandan patients with breast cancers.
Uyisenga JP et al.
Molecular Genetics & Genomic Medicine, 2020
Prevalence of Inherited Mutations in Breast Cancer Predisposition Genes among Women in Uganda and Cameroon.
Adedokun B et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2020
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