Decoding Complexity – Overcoming Real-World Challenges in Variant Analysis
Join us for the second episode of our webinar series, where we delve deeper into the complexities of variant analysis. Our esteemed bioinformatics experts will share practical solutions to real-world challenges in this field. Embark on a journey with us as we explore the advanced strategies employed by the SOPHiA DDM™ Platform to detect challenging variants associated with cancers and rare inherited disorders.
Episode 2: Advanced Techniques for Detecting Low Allele Frequency Variants
In this session, we are privileged to host two experts from SOPHiA GENETICS: Lin Song, Director of Algorithm Development, and Yvan Wenger, Manager of Bioinformatic Product Development. The focus of this webinar will be our SOPHiA DDM™ algorithm PEPPER™, which is our proprietary SNV and Indel detection technology. PEPPER™ utilizes a range of techniques to distinguish true signals from noise, ensuring precise variant calling.
Lin will highlight the strategies PEPPER™ employs to detect low allele frequency variants, by ensuring accurate distinction from library preparation and sequencing noise. This capability is crucial, especially in liquid biopsy. Yvan will present a use case demonstrating how PEPPER™ addresses the technical challenges of liquid biopsy, focusing on our application MSK-ACCESS powered with SOPHiA DDM™.
Don’t miss this chance to gain insights into our innovative methodologies for distinguishing signal from noise for low allele frequency variants.
