Big panels, big challenges: CNV detection in Whole Exome Sequencing
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 is a health tech company democratizing Data-Driven Medicine to improve health outcomes and economics worldwide. By unlocking the power of new-generation health data for cancer and rare diseases management, the universal SOPHiA DDM Platform allows clinical researchers to act with precision and confidence. The company’s innovative approach enables an ever-expanding community of over 1,000 institutions to benefit from knowledge sharing, fostering a new era in healthcare. SOPHiA GENETICS’s achievement is recognized by the MIT Technology Review’s "50 Smartest Companies".