Associated Papers
From Expert Knowledge to Validation Resources: A Case for Using in Silico Approaches to Close the Gap in Available Reference Materials for Common Germline Genetic Tests.
Roy S et al.
The Journal of Molecular Diagnostics : Jmd, 2025
Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.
Qin Z et al.
International Journal of Cancer, 2023
36385461 (PubMed )
Supplement: IJC-152-1159-s002.xlsx › BRCA1
Molecular pathogenesis of hereditary lung cancer: a literature review.
Rammal S et al.
Pharmacogenomics, 2021
Laboratory Verification of a BRCA1 and BRCA2 Massively Parallel Sequencing Assay from Wet Bench to Bioinformatics for Germline DNA Analysis.
Poon KS et al.
Global Medical Genetics, 2021
Yield and Utility of Germline Testing Following Tumor Sequencing in Patients With Cancer.
Lincoln SE et al.
Jama Network Open, 2020
33026450 (PubMed )
Supplement: jamanetwopen-e2019452-s001.pdf
Development and Validation of a 34-Gene Inherited Cancer Predisposition Panel Using Next-Generation Sequencing.
Rosenthal SH et al.
Biomed Research International, 2020
Comparison of Ion Personal Genome Machine Platforms for the Detection of Variants in BRCA1 and BRCA2.
Hwang SM et al.
Cancer Research and Treatment, 2018
BRCA1 and BRCA2 mutation spectrum - an update on mutation distribution in a large cancer genetics clinic in Norway.
Heramb C et al.
Hereditary Cancer in Clinical Practice, 2018
Secondary Somatic Mutations Restoring RAD51C and RAD51D Associated with Acquired Resistance to the PARP Inhibitor Rucaparib in High-Grade Ovarian Carcinoma.
Kondrashova O et al.
Cancer Discovery, 2017
A comparative study of germline BRCA1 and BRCA2 mutation screening methods in use in 20 European clinical diagnostic laboratories.
Ellison G et al.
British Journal of Cancer, 2017
Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
LaDuca H et al.
Plos One, 2017
28152038 (PubMed )
Supplement: pone.0170843.s003.xlsx › S3_Table
Development and validation of a 36-gene sequencing assay for hereditary cancer risk assessment.
Vysotskaia VS et al.
Peerj, 2017
28243543 (PubMed )
Supplement: peerj-05-3046-s004.xlsx › SNVs_indels
Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel Analysis.
Schenkel LC et al.
The Journal of Molecular Diagnostics : Jmd, 2016
Design and validation of a next generation sequencing assay for hereditary BRCA1 and BRCA2 mutation testing.
Kang HP et al.
Peerj, 2016
27375968 (PubMed )
Supplement: peerj-04-2162-s004.xlsx › Sheet1
Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes.
Castéra L et al.
European Journal of Human Genetics : Ejhg, 2014
Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface.
Watson CM et al.
Human Mutation, 2014
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