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Clinical Exome Solution by SOPHiA GENETICS, the big panel to answer big questions in clinical genomics.

Exome sequencing is widely used when other alternatives fail to identify alterations in genes associated with hereditary and rare diseases. The Clinical Exome Solution (CES) by SOPHiA GENETICS is a molecular NGS based application that bundles a smart capture-based kit with the analytical power of SOPHiA AI and full access to SOPHiA DDM® platform. The solution was expertly designed to provide comprehensive coverage of all types of genomic variants in 4,493 disease-related genes, and represents a powerful solution to improve patients’ diagnosis.

In this webinar, Dr. Georgios Stamoulis will present how the Clinical Exome Solution by SOPHiA GENETICS is improving patients’ diagnosis, thanks to its advanced analytical performance and specific variant filtering features dedicated to large gene-panels.
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Clinical Application Product Manager
Dr. Georgios Stamoulis is a Clinical Application Product Manager/Geneticist at SOPHiA Genetics, with more than 10 years of experience in human genetics and genomics research and diagnostics. Georgios performed his doctoral and post-doctoral studies in the University of Geneva studying molecular mechanisms of Trisomy 21 through single-cell RNA sequencing and allele-specific expression and his Masters studies in the University of Glasgow in Medical Genetics. In 2016 he received the “Fellowship of Excellence for Young Investigators” from the European Society of Human Genetics (ESHG). He is also an author of different human genetics scientific publications.