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

When: July 17, 2024 Time: 2:00 pm

Pinpointing pathogenic mutations from large, complex datasets can be difficult, time consuming and somewhat overwhelming. So, how can you best streamline your genomic analysis, to make it quicker, easier and more efficient? In this webinar, we will demonstrate how variant interpretation software can improve the accuracy and speed of variant interpretation, using specific case studies, such as detecting compound heterozygous variants in Charcot-Marie-Tooth Disease, and Alu insertions in breast cancer.  

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.  

From this webinar, you will learn how 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 a software that 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.  


  • Rolph Pfundt, Clinical Molecular Geneticist, Radboud University Medical Centre  
  • Swati Tomar, Commercial Application Product Manager, Rare and Inherited Diseases, SOPHiA GENETICS  

This webinar has been produced with the kind support of SOPHiA GENETICS. You can find out more about the technologies outlined in this webinar by visiting the SOPHiA GENETICS website. 


Dr. Swati Tomar Dr. Swati Tomar , Commercial Application Product Manager, Rare and Inherited Diseases , SOPHiA GENETICS

Swati pursued her Ph.D. in Biomedical Sciences at the University of South Carolina, where she deciphered gene expression profiles in head and neck cancers. She then trained as an NGS expert in rare and inherited diseases at the National University of Singapore during her postdoctoral fellowship. With over 12 years of experience in clinical genomics and rare inherited disorders, she has honed her skills in analyzing patient data across multiple bioinformatic platforms, serving as a crucial link between bench and bedside. Her expertise lies in enabling data-driven decisions and delivering innovative solutions that enhance patient outcomes and quality of life. Currently, Swati is a Product Manager at SOPHiA GENETICS, where she leverages her deep understanding of the healthcare sector to translate user stories into impactful product features.

Dr. Rolph Pfundt Dr. Rolph Pfundt , Clinical Laboratory Geneticist , Radboud University Medical Center

My focus is the diagnostic genetic analysis of patients with intellectual disability and/or (multiple) congenital anomalies within the division of genome diagnostics of the department of human genetics from the Radboud University Medical Center in Nijmegen in the Netherlands.

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