ACMG 2023

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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 Dates
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Disclaimer notice:
The term SOPHIA used by the speaker refers to SOPHiA GENETICS and its products.
The opinions expresseda during this presentation are these of the speaker and may not represent the opinions of SOPHiA GENETICS.
SOPHiA GENETICS does not provide support in the validation of custom products for clinical use.
SOPHiA GENETICS products are for Research Use Only and not for use in diagnostic procedures unless specified otherwise. 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.

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.

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