Associated Papers
Examining the Concordance of Detection of Hereditary Cancer Gene Variants Between Blood, Tumour, and Normal Tissue in Patients with High-Grade Serous Ovarian Carcinoma.
Mui L et al.
Genes, 2025
Examining the Diagnostic Yield of Tumour Testing and Qualifying Germline Concordance for Hereditary Cancer Variants in Patients with High-Grade Serous Carcinoma.
Goebel EA et al.
Genes, 2022
36011309 (PubMed )
Supplement: genes-13-01398-s001.zip › genes-1797999-supplementary.xlsx › Variants_Table
Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort.
Li H et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
31853058 (PubMed )
Supplement: 41436_2019_729_MOESM2_ESM.xls › Sheet1
Clinical validation of a single NGS targeted panel pipeline using the KAPA HyperChoice system for detection of germline, somatic and mitochondrial sequence and copy number variants.
Kerkhof J et al.
Expert Review of Molecular Diagnostics, 0
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