4 ways to implement ultra-sensitive NGS liquid biopsies- without UMIs

Presented:
2019-08-01

Speakers:
Cristian Ionescu-Zanetti, PhD
Chief Technology Officer

Abstract

Low signal-to-noise samples, such as cfDNA-based liquid biopsies, require improvements in sensitivity and specificity with respect to traditional callers (i.e. LoFreq) in order to provide the level of performance required for clinical utility. A common solution is the use of unique molecular identifiers (UMIs) to track individual molecules being amplified, but UMIs have their own limitations when used with real-world low DNA input samples.

This webinar will introduce ERASE-Seq, a novel approach to accurate calling for ultralow MAF variants that does not require the use of UMIs. The webinar will cover the following topics:

  • The cfDNA analytical challenge- how low do we need to go to achieve traditional biopsy sensitivity?

  • Sources of error in liquid biopsy variant calling

  • Approaches to ultra-low MAF detection - LoFreq, UMIs, etc.

  • ERASE-Seq variant calling using Molecular Amplification Pools (MAPs) without UMIs

  • Adaption of ERASE-Seq to existing and custom panels

  • How to access and run the ERASE-Seq caller via a free trial

The following case studies will be presented:

  • Applying ERASE-Seq to existing datasets

  • Using ERASE-Seq with your current panel for background correction or using MAPs

  • Applying ERASE-Seq to existing pre-validated NGS panels

  • Development and validation of a new NGS panel

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