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 GENETICS 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 the SOPHiA DDM™ Platform offers advanced analytical performance in calling challenging variants like large Indels, CNVs, Alu insertions, and Boland inversions. Additionally, you will learn how SOPHiA GENETICS 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.

Disclaimer notice:
The term SOPHIA used by the speaker refers to SOPHiA GENETICS and its products.
The opinions expressed during this presentation are these of the speaker and may not represent the opinions of SOPHiA GENETICS.
SOPHiA GENETICS does not provide support in the validation of custom products for clinical use.
SOPHiA GENETICS products are for Research Use Only and not for use in diagnostic procedures unless specified otherwise. 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 support@sophiagenetics.com to obtain the appropriate product information for your country of residence.
  • 5:00pm (CET) / 11am (EST) : Advanced germline variant analysis with the SOPHiA DDM™ Platform
  • 5:50pm (CET) / 11:50am (EST) : Q&A
  • 6:00pm (CET) / 12:00pm (EST) : Closing
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    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.