Associated Papers
Variant reclassification in cancer susceptibility genes and an updated variant spectrum of Turkish breast and colorectal cancer patients.
Can ND et al.
Human Genomics, 2026
Precision in prediction: tailoring machine learning models for breast cancer missense variants pathogenicity prediction.
Ahmad RM et al.
Briefings in Bioinformatics, 2025
Genomic landscape and comparative analysis of tissue and liquid-based NGS in Taiwanese anaplastic thyroid carcinoma.
Yeh CN et al.
Npj Precision Oncology, 2025
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
Genomic disparity impacts variant classification of cancer susceptibility genes in Turkish breast cancer patients.
Agaoglu NB et al.
Cancer Medicine, 2024
Comprehensive germline profiling of patients with breast cancer: initial experience from a Familial Cancer Clinic.
Pramanik R et al.
Ecancermedicalscience, 2024
vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines.
Munté E et al.
Bioinformatics (oxford, England), 2023
Identification of de novo variants in nonsyndromic cleft lip with/without cleft palate patients with low polygenic risk scores.
Ishorst N et al.
Molecular Genetics & Genomic Medicine, 2023
Diagnostic and therapeutic challenges of glioblastoma as an initial malignancy of constitutional mismatch repair deficiency (CMMRD): two case reports and a literature review.
Onishi S et al.
Bmc Medical Genomics, 2023
Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.
Keskin Karakoyun H et al.
Frontiers in Genetics, 2023
Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.
Bhai P et al.
Frontiers in Genetics, 2021
BRAF V600E-mutated metastatic pediatric Wilms tumor with complete response to targeted RAF/MEK inhibition.
Obasaju P et al.
Cold Spring Harbor Molecular Case Studies, 2020
Gene mutations distinguishing gastric from colorectal and esophageal adenocarcinomas.
Hoang T et al.
Journal of Gastrointestinal Oncology, 2020
TAPES: A tool for assessment and prioritisation in exome studies.
Xavier A et al.
Plos Computational Biology, 2019
CharGer: clinical Characterization of Germline variants.
Scott AD et al.
Bioinformatics (oxford, England), 2019
appreci8: a pipeline for precise variant calling integrating 8 tools.
Sandmann S et al.
Bioinformatics (oxford, England), 2018
Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.
Pritchard AL et al.
Plos One, 2018
Somatic mutations in CDH1 and CTNNB1 in primary carcinomas at 13 anatomic sites.
Busch EL et al.
Oncotarget, 2017
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014