Improved detection of low frequency mutations for early cancer detection and infectious disease research using highly accurate sequencing by binding

The ability to detect very low-frequency mutations with high accuracy is critical for applications like early detection of cancer and identification of drug resistance in infectious disease research. Existing methods are hindered by sequencing errors, which mimic real mutations, leading to false positives.

Highly accurate short-read sequencing from PacBio uses a novel chemistry called sequencing by binding (SBB) to reduce noise due to sequencing errors, including in highly repetitive regions such as microsatellites, which can have significant impact on clinical outcomes, potential treatment options, and public health.

In this webinar, you will discover the power of SBB chemistry and how it can enable potential applications in clinical and research settings where detection of low-frequency mutations is crucial.

Watch recording to:

Learn how highly accurate short-read sequencing with SBB improves sequencing error rates for more accurate detection of rare variants and microsatellite instability.
Hear about a recent study at McGill University that leveraged SBB targeted sequencing data to detect rare somatic variants and microsatellite instability in ovarian and endometrial cancers that were missed by other technologies.
Discover how researchers at TGen used SBB to detect very low frequency mutations causing drug resistance in tuberculosis (TB) down to an allele frequency of 0.001%.

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Area(s) of interest Cancer researchOncology testingInfectious disease researchMetagenomics + 16SPublic health + surveillance

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Speakers

Alex Sockell, PhD
Segment Lead, Cancer Genomics, PacBio

Intro to SBB

Jiannis Ragoussis, PhD
Head of Genome Sciences and Professor of Human Genetics, McGill University

Improved detection of low frequency mutations and microsatellite instability in ovarian and endometrial cancers using highly accurate sequencing by binding

Stephanie Pond, PhD
VP Emerging Opportunities, TGen

Sequencing by binding rivals error-corrected sequencing by synthesis technology for accurate detection of very minor (<0.1%) populations in tuberculosis