ASHG 2022

SOPHiA GENETICS is excited to be a part of the American Society of Human Genetics (ASHG) Annual Meeting 2022, held in person in Los Angeles, California, USA from October 25-29. 

You will have the chance to chat with our experts at booth #1733 and demo the universal SOPHiA DDM™ Platform as well as learn more about our Application and Technical Notes.

Application Note: Mitochondrial genome analysis with SOPHiA DDM™️ Whole-Exome Sequencing
Learn about how SOPHiA GENETICS addressed the unique challenges associated with genotyping mitochondrial DNA (mtDNA) to develop robust pipelines for mitochondrial genome analysis. See for yourself how in a single workflow, the SOPHiA DDM™️ Platform complemented by Alamut™️ Visual Plus can be used to identify and interpret variants in mtDNA alongside SNVs, Indels, and CNVs in nuclear DNA.

Alamut™️ Visual Plus Technical Note: Guideline-driven nomenclature for variant analysis
Gain clarity on the guidelines behind the nomenclature convention employed in Alamut™️ Visual Plus. Read our descriptive guide to the HGVS nomenclature standard, genome reference assemblies, and MANE transcripts, and how these universal standards for variant analysis and interpretation are applied in Alamut™️ Visual Plus.

Join us for our Lunch & Learn symposium!

Friday, October 28th from 12:30-1:30PM in Room 301A&B

Learn about SOPHiA DDMTM Platform
Enjoy lunch together
Network with your peers

Fully integrated workflows to accurately interpret genomic variants associated with rare and inherited diseases

There are multiple steps involved in gaining insights from next-generation sequencing (NGS) data, which can take considerable time and involve several technologies and providers. In our lunch symposium, hear first-hand about how we collaborate with renowned genomic experts to design and implement cost-effective, tailored NGS-based applications to maximize workflow efficiency.

Discover how our sample-to-report workflows streamline the accurate identification and interpretation of nuclear and mitochondrial variants associated with rare and inherited diseases, including hereditary cancers.

Our speakers will share how the SOPHiA DDMTM Platform adapts to their laboratory’s needs to accurately call and prioritize variants in combination with AlamutTM Visual Plus for deep exploration and full-genome visualization to enhance variant interpretation

Screening for genetic variants in hereditary cancer syndromes using the end-to-end SOPHiA DDMTM workflow
Mark Williams, FHGSA – Chief Scientist at Genomic Diagnostics, Heidelberg, Victoria, Australia

Streamlining clinical implementation of hereditary cancer analysis and reporting with a custom application
Hong Wang, PhD, FCCMG, FACMG, DABMGG Laboratory Geneticist at North York General Hospital, Toronto, Ontario, Canada
Andrea Vaags, PhD, FCCMG Discipline Co-Lead and Laboratory Geneticist at Trillium Health Partners – Credit Valley Hospital, Mississauga, Ontario, Canada

Exome sequencing with combined mitochondrial genome sequencing for detection of nuclear and mitochondrial DNA variants
Jessica Van Ziffle, PhD, FACMG Associate Clinical Professor, Pathology at University of California, San Francisco, California, United States

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Looking forward to meeting you there!

SOPHiA GENETICS products are for Research Use Only and not for use in diagnostic procedures unless specified otherwise.

Event Date

October 28, 2022 – October 29, 2022

Event Type


Event Location

North America

Areas of Interest

Genomics, Hereditary Disorders

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