Big panels, big challenges: CNV detection in Whole Exome Sequencing
WEBINAR DETAILS
About
While Whole Exome Sequencing has shown promise in becoming a first-tier tool for understanding rare genetic disorders, the identification of copy-number variations (CNVs) from large NGS datasets is still challenging. During this short webinar, one of our Data Science Experts will walk you through the challenges of NGS-based CNV detection, including inferring events from read coverage and managing sources of noise.
Head of Bioinformatic Product Development at SOPHiA GENETICS
Bernardo J Foth started with the company back in 2014 as a Senior Bioinformatician but grew in his role to team leader in 2018 in the Data Science department. He has a PhD in Parasite Genomics from the University of Melbourne. Foth’s 16 years of...
SOPHiA GENETICS (Nasdaq: SOPH) is a healthcare technology company revolutionizing data-driven medicine and life sciences research. Their flagship product, the SOPHiA DDM™ Platform, empowers over 750 global institutions with cloud-based analytics and insights from diverse diagnostic datasets.