ACMG 2023

SOPHiA GENETICS™ is excited to be a part of the American College of Medical Genetics annual meeting, held in person in Salt Lake City, Utah, from March 14th–18th

You will have the chance to chat with our experts at booth #407 and demo the universal SOPHiA DDM™ Platform. 

User cases: advancing rare disease research with the SOPHiA DDM™ Platform 

Exhibit Theatre 2

Thursday, March 16

11:55 am – 12:25 pm

Join us for a presentation describing how different SOPHiA GENETICS™ Applications can be used in laboratories for analysis of variants associated with rare diseases and hereditary cancers, and the value of purpose-built, high-quality enrichment kits, data analytics, and interpretation software for targeted panels and exome sequencing. 

  • Learn how our users have simplified their laboratory workflows with a combination of SOPHiA GENETICS™ Applications, the SOPHiA DDM™ Platform, and Alamut™️ Visual Plus 
  • Understand how to efficiently combine solutions offered by SOPHiA GENETICS™ to address your research lab needs when testing for germline conditions 

Presented by:

Sevana Yaghoubian, MSc – Director, Genomics, SOPHiA GENETICS  

Simon Alfred, PhD – Senior Subject Matter Expert – SOPHiA GENETICS 

Melania Abreu, MD, MSc – Medical Geneticist, Genos Médica​

A next generation sequencing strategy for a comprehensive molecular diagnosis in Chronic Lymphocytic Leukemia: Mexican Experience

Friday, March 17th

10:30 am – 12:00 pm 

Poster #P042​

First Author: Melania Abreu, MD, MSc – Medical Geneticist, Genos Médica​

Event Date

March 14, 2023 – March 18, 2023

Event Type


Event Location

North America

Areas of Interest

Genomics, Hereditary Disorders, Hereditary Cancer, Alamut

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