Moving CE Amplicons Successfully to Ion PGM Sequencer Technology -- José Luis Costa, PhD IPATIMUP
491 views · Published 6 December 2012 · 18:37 · Indexed 12 November 2026
Channel: Thermo Fisher Scientific · 2012 · Science & Technology
Learn more at http://www.lifetechnologies.com/ionexperience Analysis of gene panels in clinical research setting, including BRCA1/2 using PCR enrichment and Ion PGM workflow and comparison with capillary electrophoresis data. The lab results indicate 99% sensitivity and specificity with 0% false positives, from an analysis of 4912 variants on the Ion PGM™ Sequencer. The presentation describes an ongoing workflow for routine analysis that uses the Ion PGM for all variant analysis, and Sanger Sequencing for validation and any missed amplicons -- typically around 1.6 sequences per sample.
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