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.