Next-Generation Sequencing-Based Detection of Germline Copy Number Variations in BRCA1/BRCA2: Validation of a One-Step Diagnostic Workflow

Keyphrases

• Copy number Variation 100%
• BRCA1, BRCA2 100%
• Next-generation Sequencing 100%
• Radiology Workflow 100%
• Multiplex Ligation-dependent Probe Amplification 57%
• Germ Cells 28%
• Insertion-deletion 14%
• Diagnostic Test 14%
• Ovarian Cancer 14%
• Breast 14%
• Single nucleotide Variant 14%
• BRCA2 14%
• Patient Samples 14%
• Genetic Testing 14%
• Breast Cancer Susceptibility Gene 1 (BRCA1) 14%
• Sanger Sequencing 14%
• Cancer Families 14%
• Routine Diagnostics 14%
• Sequence Data 14%
• Next-generation Sequencing Data 14%
• Information Data 14%
• Illumina MiSeq Platform 14%
• Method of Use 14%
• Cancer Gene Panel 14%
• Gene Panel Sequencing 14%
• Bioinformatics Workflow 14%
• Breast Cancer Genes 14%
• Single Platform 14%
• Variation Information 14%

Biochemistry, Genetics and Molecular Biology

• BRCA2 100%
• BRCA1 100%
• Copy-Number Variation 100%
• Next Generation Sequencing 100%
• Multiplex Ligation-Dependent Probe Amplification 50%
• Germline 25%
• Germ Cell 25%
• Indel 12%
• Single-Nucleotide Polymorphism 12%
• Genetic Screening 12%
• Sanger Sequencing 12%
• Illumina MiSeq 12%