Rapid and accurate variant detection with the HEAT-Seq Target Enrichment System, a new method using advanced molecular inversion probes

Presenter: Dr. Michael Brockman, Manager of Research Informatics, Roche Sequencing

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 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. 


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