Next-Generation Sequencing –Based Detection of Germline Copy Number Variations in BRCA1/BRCA2: Validation of a one-step diagnostic work-flow
We report the use of NGS gene panel sequencing on the Illumina MiSeq platform and JSI SeqPilot SeqNext software to call germline CNVs in BRCA1 and BRCA2.
Source: Journal of Molecular Diagnostics - Category: Pathology Authors: Ane Y. Schmidt, Thomas v. O. Hansen, Lise B. Ahlborn, Lars J ønson, Christina W. Yde, Finn C. Nielsen Tags: Technical Advance Source Type: research