Rapid and Accurate Variant Detection with the HEAT-Seq Target Enrichment System, a New Method Using Advanced Molecular Inversion Probes

Fundamental Research, Life Sciences,
  • Friday, September 30, 2016

The ability to detect genetic variants quickly and efficiently is an increasingly important consideration in the selection of a sequencing-based research tool. While Whole Genome Sequencing (WGS) and Whole Exome Sequencing (WES) can serve as comprehensive tools for detecting variants, they are also accompanied by a greater sequencing and informatics analysis burden. Focused target enrichment methods simplify the analysis and enable higher throughput. One of those techniques is Molecular Inversion Probes (MIPs) which brings additional advantages such as the elimination of a separate library prep; however, many researchers have found it a difficult method to design and implement. Thus, there remains a need for a cost-effective approach to targeted sequencing that offers high-quality data with a fast workflow and inherent scalability.

Dr. Brockman, Manager of Research Informatics, at Roche Sequencing will present a streamlined enrichment method based on Molecular Inversion Probes and will elaborate on how its fast workflow and other refinements can simplify the variant discovery and validation process. The data presented will show (i) the performance of fixed content and custom panels in detecting normal and low-frequency variants with high accuracy, (ii) the extremely low false-positive rate of the method, (iii) comparisons with other methods, and (iv) the reliable performance of custom panels created using a standardized and simplified process.

Dr. Brockman will also discuss the benefits this method offers to researchers in the areas of genetic or inherited disease research as well as cancer research.

For Life Science research Only. Not for use in diagnostic procedures.


Michael Brockman, PhD, Manager of Research Informatics, Roche Sequencing

Dr. Brockman is Manager of Research Informatics at Roche NimbleGen in Madison, Wisconsin, USA. He has been at Roche NimbleGen since 2009 as part of the research and development group specializing in bioinformatics. He received a PhD in Bioinformatics from Boston University. At Roche NimbleGen, he was part of the MedExome development team and is currently working on new target enrichment tools.

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Who Should Attend?

  • Genetics and Genomics Researchers
  • Principle Investigators
  • Laboratory Scientists
  • Genome Center Directors
  • Clinical and Translational Researchers
  • Cancer/Oncology Researchers
  • R&D Directors, Managers in Pharmaceutical and Biotechnology Companies
  • Agricultural Genetic Researchers

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Roche NimbleGen is an innovator in the life sciences market focused on research activities and manufacturing target enrichment probe pools for DNA sequencing. Capitalizing on the efficiencies inherent with parallel enrichment, researchers can now design economical, high throughput, and time-saving next-generation sequencing experiments. Next-generation sequencing combined with Sequence Capture probe pools offers researchers a clearer understanding of genomic structure and function in order to understand the impact of genes on biological processes. We are part of the innovations in sequencing solutions for life science research, now and in the future.

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