Validation of a UMI-Powered NGS Panel for Improved Variant Calling
This webinar discusses the benefits of using unique molecular indices to overcome some challenges associated with next-generation sequencing panels.
Targeted NGS panels have been instrumental in advancing the field of cancer genomics by enabling the analysis of hundreds of mutations across many genes in an individual assay.
The biggest challenges, however, to realizing the full benefits of targeted NGS panels are 1) PCR duplicates and errors introduced during the workflow, which result in reduced confidence in calling variants such as single nucleotide variants and indels; 2) low levels of enrichment and sequencing uniformity, which affect the ability to call low-frequency variants; and 3) long turnaround times and high DNA input requirements, which limit the practicality of NGS panels.
These challenges can be overcome by building a robust workflow with short turnaround times that incorporates unique molecular indices (UMIs) to correct for PCR errors and single primer extension (SPE) to enhance uniformity and reduce the DNA input requirements.
During this webinar, Dr. Bernadette Wildemore of Labsolutions discusses the validation of a UMI-powered DNA panel and associated bioinformatics pipelines in high-throughput routine use. Dr. Raed Samara of Qiagen then discusses the benefits of incorporating UMIs and SPE to overcome the current challenges of using targeted NGS panels.