We have developed an amplicon-based NGS approach for FFPE
samples that can detect SNVs, small mutations and LRs
simultaneously. We have implemented a comprehensive
bioinformatics algorithm that detects LRs at high sensitivity, even in
the absence of control sample(s). This significantly reduces the cost
and labor for BRCA1/2 genetic analyses.
Similar to A next Generation Sequencing Approach to Detect Large Rearrangements in BRCA1/2 Simultaneous to Small Mutation Detection from FFPE Research Samples
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