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
