Menu
SOPHiA GENETICS™ is excited to be a part of the 30th American College of Medical Genetics annual meeting, held in person in Toronto, Canada, from March 12th – 16th .
Stop by booth #712 for a chance to:
Stop by booth #712 for a chance to meet our experts, get a sneak peak into capabilities of SOPHiA DDM™ Platform and to celebrate #MedicalAwarenessWeek with our team.
LUNCH & LEARN
Navigating genetic landscapes in hereditary diseases and pharmacogenomics: From complex variants to star allele calling
Thursday, March 14
11:55 am -12:25 pm
Exhibit Theatre #1
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 DDMTM 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 DDMTM 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 DDMTM in managing hereditary cancers and shaping the path forward for precision medicine.
Presented by
Olena Kis, PhD, FACMG, Henry Ford Health Systems
Sevana Yaghoubian, MSc, SOPHiA GENETICS
SOPHiA GENETICS products are for Research Use Only and not for use in diagnostic procedures unless specified otherwise.
SOPHiA DDM™ Dx Hereditary Cancer Solution, SOPHiA DDM™ Dx RNAtarget Oncology Solution and SOPHiA DDM™ Dx Homologous Recombination Deficiency Solution are available as CE-IVD products for In Vitro Diagnostic Use in the European Economic Area (EEA), the United Kingdom and Switzerland. SOPHiA DDM™ Dx Myeloid Solution and SOPHiA DDM™ Dx Solid Tumor Solution are available as CE-IVD products for In Vitro Diagnostic Use in the EEA, the United Kingdom, Switzerland, and Israel. 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 [email protected] to obtain the appropriate product information for your country of residence.
All third-party trademarks listed by SOPHiA GENETICS remain the property of their respective owners. Unless specifically identified as such, SOPHiA GENETICS’ use of third-party trademarks does not indicate any relationship, sponsorship, or endorsement between SOPHiA GENETICS and the owners of these trademarks. Any references by SOPHiA GENETICS to third-party trademarks is to identify the corresponding third-party goods and/or services and shall be considered nominative fair use under the trademark law.
