ASHG 2025

SOPHiA GENETICS is thrilled to return and join the genomics community at this year’s American Society of Human Genetics (ASHG) Annual Meeting in Boston, Massachusetts.

Visit Booth #1040 to explore the next-generation SOPHiA DDM™ Platform and Alamut™ Visual Plus, and uncover our latest advancements in Enhanced Exome and Whole Genome Sequencing analytics.

Join us and be part of the conversation with our experts, partners, and users as we tackle the challenges of rare and inherited disorder and pharmacogenomic analysis.

Poster Presentation

Wednesday, Oct 15 | 02:30 – 04:30 PM | Exhibit & Poster Hall, Lower Level Board 8008W

An integrated variant prioritization framework utilizing robust phenotype and variant classification approaches

Authored and presented by: Adrian Janiszewski

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Co-lab Theater Talk

Thursday, Oct 16 | 12:00 – 12:30 pm | Theatre 1, Exhibit & Poster Hall, Lower Level

Simple workflows for complex genomics: A closer look at our latest enhanced exome and whole genome capabilities

One workflow, many applications: Enhanced exome sequencing for rare diseases, carrier screening, cancer, and beyond

Presented by: Guilherme Yamamoto, Head of Genomics and Bioinformatics Innovation, Dasa Brazil

Advances in whole genome analysis: Analytical depth meets practical simplicity

Presented by: Izabela Matyszczak, Technical Product Management Expert, Genomic Research Expert, SOPHiA GENETICS

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