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: Tags: Technical Advance Source Type: research
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