OCT 28, 2014 08:00 AM PDT

The identification of single nucleotide and structural variants in gene sequencing

  • Max van Min, CEO, CergentisLaurel Provencher, Manager of Assay Development, PerkinElmer
      Max van Min is CEO of Cergentis and co-inventor of its Targeted Locus Amplification (TLA) Technology. Max received a Master of Science degree in Biotechnology from Wageningen University & Research Centre in the Netherlands and has a career in commercial management positions in the Life Sciences.
      Laurel is a Manager of Assay Development in the Microfluidics and Automation business unit of the Life Sciences and Technology division of PerkinElmer, Inc.  In the past ten years, Laurel has led various assay development projects including standardized automated NGS sample prep workflows, microfluidic analysis of DNA and protein samples, and microfluidic mobility-shift assays for drug discovery.  Her experience has included numerous collaborative projects in genomics, biotherapeutics and  small molecule drug development projects.

    The TLA Technology constitutes a paradigm shift in targeted next generation sequencing (NGS). The TLA technology uses the physical proximity of nucleotides within a locus of interest as the basis of selection. DNA is cross-linked, fragmented and ligated. Only one to a few primer pairs specific for a genetic locus of interest are in-turn required for the amplification of an entire locus. TLA  enrichment in combination with NGS is a very flexible and easy approach to sequence regions of interest and identify all single nucleotide variants (SNV's) and structural variants including comprehensive gene-fusion sequencing and the characterization of transgenes and their integration sites. Implementation of automated sample prep and QC for TLA technology will be discussed with an overview of liquid handling and microfluidic solutions for increasing productivity in NGS sample prep workflows.

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