Menu
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.
SOPHiA GENETICS products are for Research Use Only and not for use in diagnostic procedures unless specified otherwise.
SOPHiA DDM™ Dx Hereditary Cancer Solution, SOPHiA DDM™ Dx RNAtarget Oncology Solution and SOPHiA DDM™ Dx Homologous Recombination Deficiency Solution are available as CE-IVD products for In Vitro Diagnostic Use in the European Economic Area (EEA), the United Kingdom and Switzerland. SOPHiA DDM™ Dx Myeloid Solution and SOPHiA DDM™ Dx Solid Tumor Solution are available as CE-IVD products for In Vitro Diagnostic Use in the EEA, the United Kingdom, Switzerland, and Israel. Information about products that may or may not be available in different countries and if applicable, may or may not have received approval or market clearance by a governmental regulatory body for different indications for use. Please contact us at [email protected] to obtain the appropriate product information for your country of residence.
All third-party trademarks listed by SOPHiA GENETICS remain the property of their respective owners. Unless specifically identified as such, SOPHiA GENETICS’ use of third-party trademarks does not indicate any relationship, sponsorship, or endorsement between SOPHiA GENETICS and the owners of these trademarks. Any references by SOPHiA GENETICS to third-party trademarks is to identify the corresponding third-party goods and/or services and shall be considered nominative fair use under the trademark law.
