Genetics Webinars

Variant classification – RNA analysis: This webinar discusses Myriad’s utilization of an RNA lab to assess variants and provide examples of variants studied in the lab.

Pheno Analysis: A highly accurate and robust variant reclassification tool: This webinar will provide detailed information how Pheno was developed, which genes it has been validated for, how it accounts for errors in family history reporting, and finally how it fits into Myriad’s reclassification program.

riskScore™ – Part One: The first part of this webinar series provides an overview of SNPs, Polygenic Risk Scores, and their role in risk assessment

riskScore™ – Part Two: The second part of this webinar series will describe the development and validation of Myriad’s breast cancer risk assessment model, riskScore.

riskScore™ – Part Three: The third part of this webinar series will walk through the two validation studies that were performed for riskScore.

Improving the precision of risk assessment with SNPs: This is a recording of the presentation at the annual NSGC conference in 2017. The objectives of the presentation were to provide information on how SNPs can be used to develop a polygenic risk score, and discuss Myriad’s validation of the SNPs involved in riskScoreTM.

Reporting of TP53 mutations – Implications for genetic counseling and clinical management: Myriad has changed the way pathogenic or likely pathogenic findings in the TP53 gene are reported since additional testing is required to confirm if the findings are germline or somatic in origin. This webinar will explain Myriad’s new reporting process for pathogenic or likely pathogenic findings in TP53 and present the data that led to this change

Complexities of variant classification: 2 cases studies (April 2017): This webinar describes Myriad’s variant reclassification process and the complexities of classifying two particular variants.

Challenges to analytical accuracy: triplications and gene conversions: This webinar describes what these alterations are, why they are challenging, and the steps Myriad takes when one of these changes are suspected

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