A major challenge in the era of precision medicine is to ensure quick and reliable identification of potentially disease-causing genetic variants with a streamlined workflow.
This webinar will focus on how SOPHiA overcomes these challenges by enabling experts to deal with the vast amounts of genetic data coming from both targeted and exome applications, and how to accurately detect the variants of interest. You will have the opportunity to discover how our platform offers advanced analytical performance in calling challenging variants like large Indels, CNVs, Alu insertions, and Boland inversions. Additionally, you will learn how SOPHiA manages difficult research contexts such as pseudogenes or homopolymeric regions.
This session is a must-see for laboratories using Next-Generation Sequencing for hereditary disorders, willing to implement an efficient and reliable secondary analysis solution in their routine workflow.
Research Use Only (RUO), Not for Use in Diagnostic Procedures
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5:00pm (CET) / 11am (EST) : Advanced germline variant analysis with the SOPHiA Platform
5:50pm (CET) / 11:50am (EST) : Q&A
6:00pm (CET) / 12:00pm (EST) : Closing
Bernardo J. Foth PhD
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 research experience in bioinformatics, molecular biology, genomics and proteomics have resulted in his inclusion in more than 30 research articles, reviews and book chapters, including key publications in Science and Nature Genetics. Previously, he was senior staff scientist at the Wellcome Trust Sanger Institute in the UK.