More comprehensive and accurate variant detection with highly accurate long reads

Date:

Wednesday, January 20, 2021

Time:

3:00 p.m. GMT

With highly accurate long reads (HiFi reads), the Sequel IIe System is the tool of choice for producing reference-quality assemblies, calling variants with the highest precision, reading full-length transcripts to characterize isoform diversity and many more applications.

Coupled with a new, faster and more cost-effective workflow, HiFi reads improve the ability to detect pathogenic variants that were previously undetected by other technologies.

The Sequel IIe System and HiFi reads are available at the Oxford Genomics Centre.

In this webinar we will cover:

The recent PrecisionFDA Truth Challenge V2, which evaluated methods for variant calling in human genomes and highlighted how approaches using PacBio HiFi reads delivered the highest precision and recall in all categories: genome-wide, specifically in difficult-to-map regions, and in the major histocompatibility complex.
How more comprehensive and accurate variant calling improves the ability to detect pathogenic variants in rare disease cases.
Recent publications and findings that highlight increased solve rates in rare diseases and examples from high-profile global research projects.

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Area of Focus

Applications of interest WGS - De Novo AssemblyWGS - Variant DetectionRNA SequencingMetagenomicsEpigeneticsTargeted SequencingOther

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Speaker

Ralph Vogelsang, Ph.D.

Manager Business Development, PacBio, Europe