OCT 13, 2021 10:00 AM PDT

Overcoming sequence artifacts to fuel clinically relevant NGS applications

Sponsored by: Watchmaker Genomics
C.E. Credits: P.A.C.E. CE Florida CE
Speaker

Abstract
Date:  October 13, 2021
Time:  1:00pm (EDT), 10:00am (PDT)
 

Clinically relevant applications, such as somatic variant detection, continue to push the bounds of existing next generation sequencing (NGS) technologies, requiring highly scalable solutions that are compatible with a broad range of DNA inputs and deliver increasingly high sensitivity and specificity. A persistent bottleneck in these workflows is genomic DNA fragmentation. Sonication is currently the gold standard for unbiased DNA fragmentation, but it requires an upfront equipment investment, is not easily automated or scaled, and is difficult to apply to low input samples due to inherent sample loss. Current enzymatic DNA fragmentation products alleviate many of these issues; however, they present data quality challenges due to the prevalence of sequence artifacts formed during the fragmentation process which can convolute variant calling and decrease accuracy. 

Through sophisticated enzyme engineering and a multidimensional Design of Experiments approach to system optimization, Watchmaker Genomics has developed Watchmaker DNA Library Prep with Fragmentation. The workflow harnesses the process benefits of enzymatic fragmentation, while mitigating the formation of associated artifacts, including chimeric reads and false SNVs centered on partial palindromes at the ends of fragments. Further, inclusion of the Equinox polymerase delivers ultra-high fidelity, low-bias library amplification. Results highlight robust and tunable fragmentation performance, even with sub-nanogram input amounts and formalin-fixed paraffin-embedded (FFPE) samples, along with high library conversion efficiency. Watchmaker’s library prep solution enables clinical and translational applications to access meaningful insights from a broad range of biological sample types with an unparalleled combination of accuracy and scalability.

 
Learning Objectives
  • Identify sequencing artifacts, such as interchromosomal mate pairs and hairpin artifacts, that can be introduced during library construction and how they can negatively impact assay sensitivity in clinically relevant applications, such as germline and somatic mutation calling.
  • Illustrate the utility of combining a novel enzyme engineering platform and a multidimensional Design of Experiments (DOE) optimization approach to developing workflows that mitigate sequence artifacts.
  • Demonstrate the value of a streamlined, scalable, and highly accurate library preparation workflow for high-stringency applications and challenging samples types, such as ultra-low and degraded inputs.
 
 
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LabRoots is approved as a provider of continuing education programs in the clinical laboratory sciences by the ASCLS P.A.C.E. ® Program. By attending this webinar, you can earn 1 Continuing Education credit once you have viewed the webinar in its entirety.

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