ACMG Exhibit Theatre: Navigating genetic landscapes in hereditary diseases and pharmacogenomics: From complex variants to star allele calling
Thursday, March 14, 11:20am - 11:50pm (EDT)
Presented by Dr.Olena Kis, Henry Ford Health Systems
In this rapidly evolving genomics landscape driven by technological innovations in Next Generation Sequencing (NGS), the resulting decrease in cost of sequencing has expanded the usage of large panels such as exomes for routine clinical testing to include pharmacogenomics as well as hereditary disorders and rare diseases. SOPHiA DDM™ platform is capable of overcoming challenges posed by diverse sequencers, chemistries, and identifying hard-to-capture variants by resolving variants of uncertain significance across hereditary disorders and pharmacogenomics.
In this session, we will delve into the analytical performance of SOPHiA DDM™ on Element's AVITIä, highlighting its technology-agnostic capabilities, followed by the real-world experiences shared by Dr. Olena Kis from Henry Ford Health Systems.
In her talk, Dr. Kis will discuss case studies highlighting the successful detection of complex variants through exome sequencing. These studies, focusing on hereditary cancer and pharmacogenomics applications, underscore the impact of SOPHiA DDM™ in managing hereditary cancers and shaping the path forward for precision medicine.
Presented by Dr.Olena Kis, Henry Ford Health Systems
In this rapidly evolving genomics landscape driven by technological innovations in Next Generation Sequencing (NGS), the resulting decrease in cost of sequencing has expanded the usage of large panels such as exomes for routine clinical testing to include pharmacogenomics as well as hereditary disorders and rare diseases. SOPHiA DDM™ platform is capable of overcoming challenges posed by diverse sequencers, chemistries, and identifying hard-to-capture variants by resolving variants of uncertain significance across hereditary disorders and pharmacogenomics.
In this session, we will delve into the analytical performance of SOPHiA DDM™ on Element's AVITIä, highlighting its technology-agnostic capabilities, followed by the real-world experiences shared by Dr. Olena Kis from Henry Ford Health Systems.
In her talk, Dr. Kis will discuss case studies highlighting the successful detection of complex variants through exome sequencing. These studies, focusing on hereditary cancer and pharmacogenomics applications, underscore the impact of SOPHiA DDM™ in managing hereditary cancers and shaping the path forward for precision medicine. Exhibit Theatre 1 false MM/DD/YYYY 30 OPAQUE axnljDEozzdWjvMNzmGn156867
Exhibit Theatre 1
SOPHiA GENETICS Events, events@sophiagenetics.com