November 02, 2017
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Validation of a UMI-Powered NGS Panel for Improved Variant Calling


Director, Labsolutions, LLC

Global Product Manager, Qiagen

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.

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A phylogenetic analysis indicates two venomous Australian spiders are more closely related than thought, the International Business Times reports.

Technology Review reports that 2017 was the year of consumer genetic testing and that it could spur new analysis companies.

In Science this week: CRISPR-based approach for recording cellular events, and more.

A new company says it will analyze customers' genes to find them a suitable date, though Smithsonian magazine says the science behind it might be shaky.

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This webinar will discuss the findings of a recent effort to sequence microbial communities in the Dry Valleys of Antarctica, one of the world's most extreme environments.

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This webinar will walk through key considerations and helpful guidelines to accelerate next-generation sequencing (NGS)-based clinical genomics assay validation for less money and greater confidence in results.

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In this webinar, Jill Viles, an Iowa mother with no clinical training, shares her story of how she self-diagnosed her rare condition, a muscle-wasting disease caused by a mutation in the LMNA gene. She will also discuss how she discovered that a mutation in the same gene is the underlying cause for the excess muscle phenotype exhibited by Canadian Olympic hurdler Priscilla Lopes-Schliep. 

Sponsored by
Swift Biosciences

This webinar will discuss an optimized protocol for methyl-CpG binding domain sequencing (MBD-seq), which enables comprehensive, adequately powered, and cost-effective large-scale methylome-wide association studies (MWAS) of almost all 28 million CpG sites in the genome.