Interpreting Splice Variants:
Contemporary Classification Tools and Methods

Thursday, September 21, 2023

Webinar with Myriad Genetics

Hosted by Genomenon

Hereditary cancer tests help patients understand their risk of cancer, providing actionable results and allowing them to proactively manage their medical care. Therefore, accurate classification of variants in hereditary cancer genes is of paramount importance. Clinical genomics scientists face unique challenges in classifying splice variants, requiring a diverse team of experts and an array of tools to meet these challenges.

In this webinar, Randi Rawson, PhD, of Myriad Genetics will discuss the multifaceted approach that brings together RNA analysis, functional evidence in the literature, published clinical cases, and other methods to classify splice variants. She will share how the Mastermind Genomic Search Engine facilitates the clustering of publications for variants that share a common mechanism, and how a critical review of all available evidence is crucial for interpreting splice variants. Dr. Rawson will be joined by Genomenon’s Field Application Scientist and Mastermind Expert, Denice Belandres.

You Will Learn:

  • How interpreting splice variants represents a unique challenge in hereditary cancer genes and directly impacts patient risk mitigation and care
  • How determining whether a splice variant causes a partial or complete defect can alter variant classification
  • How multidisciplinary teams employ multiple tools like RNA analysis, computational predictions, literature, and clinical data for a comprehensive approach

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Guest Speaker

Randi Rawson Bio Image Circle

Randi Rawson, PhD

Clinical Genomics Scientist at Myriad Genetics
Randi has been a Clinical Genomics Scientist at Myriad Genetics for four years. She works on variant classification and reclassification for Myriad’s Oncology products alongside a diverse team of scientists, genetic counselors, and lab directors. Prior to joining Myriad, Randi completed her PhD and post-doctoral training at the University of Utah.

Mastermind Expert

Denice Belandres

Field Application Scientist, Genomenon
Denice provides technical support and training to Mastermind users at all levels. With a background in germline variant analysis and preimplantation genetics in clinical NGS labs, she turns feedback into function, enabling implementation of Mastermind for a variety of clinical use-cases.