Abstract:Introduction: Next Generation Sequencing (NGS) is cost-effective, capable to investigate the genes faster but the protocol has challenges throughout its steps.
Objective: We investigated different adjustments of protocol to screen the BRCA genes using Ion Torrent PGM sequencing and correlate the results with number of False Positive (FP) variants.
Material and methods: Library preparation process, number of FP InDels, library concentration, number of cycles in amplify targets step, purity of nuclei… Show more
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