Enhancing variant interpretation: Obtaining answers from a vast universe of data

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.

Event Date
August 7, 2024 – August 7, 2024

Event Type

Webinar

Event Location

Global

Areas of Interest

Alamut

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.

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