SOPHiA GENETICS™ thrilled to be back at ESHG 2025! Come meet our team to learn how SOPHiA GENETICS can help turn complex generic data into life-changing Insights! 

Pinpointing pathogenic mutations from large, complex datasets can be difficult, time-consuming, and somewhat overwhelming.

So, how can you streamline your genomic analysis, to make it quicker, easier, and more efficient?

In this webinar you will learn how Alamut™ Visual Plus enables clinical researchers to:

➡️ Resolve splice-site variants using splicing scores and exonic splicing enhancer binding site predictors in a visual interface.

➡️ Conduct familial variant analysis (FVA) for prioritization of germline variants, by excluding those that do not follow Mendelian inheritance patterns.

➡️ Utilize trusted databases, predictors, publications and guidelines, such as the ACMG criteria, for effective genomics interpretation.

➡️ Enhance interpretation through Alamut™ Visual Plus which offers comprehensive annotations and visualization of breakpoints and coverage across different file types in a full genome browser.

➡️ Better understand the significance of a guideline-driven approach to variant nomenclature for consistent analysis and reporting.

Additionally, Rolph Pfundt, a Clinical Molecular Geneticist at Radboud University Medical Centre in the Netherlands, will share insights into his variant interpretation workflow. He will also highlight how Alamut™ Visual Plus enables the identification of complex variants with greater ease and precision.

Optimized variant prioritization for enhanced insights: SOPHiA DDM™️ and Alamut™️ Visual Plus in Action.

Are you keen to improve your tertiary analysis?

Discover how SOPHiA GENETICS end-to-end workflows can do just this.
Our webinar covers:

Presented by:

The critical role of transcript analysis for refining the classification of variants associated with constitutional disorders.

Alamut™️ Visual Plus user presentation at the ASHG 2023 Annual Meeting.

Presented by: Kai Lee Yap, PhD, FACMG,
Director of Molecular Diagnostics, Ann & Robert H. Lurie Children’s Hospital of Chicago, Assistant Professor of Pathology, Northwestern University Feinberg School of Medicine.

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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