This is a recording of a session from the AMP 2020 Annual Meeting & Expo. Purchase the entire AMP 2020 Annual Meeting & Expo recordings for a significant discount!
Variants of uncertain significance are routinely detected during diagnostic testing for constitutional genetic disorders. This session will describe high throughput methods for functional validation that can provide evidence for or against the pathogenicity of these variants.
Saturation Genome Editing for Variant Effect Prediction
Jay A. Shendure, MD, PhD, University of Washington, Seattle, WA, USA
Validating Oncogenic Somatic Mutations: A Computational and Functional Approach
Collin Tokheim, PhD, Dana-Farber Cancer Institute, Boston, MA, USA
Objectives:
- Describe approaches for high throughput functional and genomic characterization of variants.
- Compare methods for high throughput functional validation.
- Apply high throughput functional validation results to variant classification.
Recording Date: November 17, 2020
Continuing Education Credit Information
CME/CMLE credit: 1.50 hr
Last day to purchase course and CE claim credit: February 16, 2024
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