Variant interpretation and classification and the generation of a test report in clinical genomics are the critical last steps of a workflow that involves major upstream bioinformatics processes. While standardized criteria for variant interpretation and classification have been developed, such criteria do not include the recognition of different technical and informatics artifacts introduced either during the wet-lab processes or by the bioinformatics algorithms. In addition, despite the broad adoption of genomic sequencing in clinical laboratories, the methods and file formats widely used in bioinformatics pipelines are not formally standardized. In this hands-on workshop session, the ‘informatics’ aspects of variant annotation, classification and interpretation will be discussed with the aid of example case files that will be available to the participants both for preview and for live review during the session as the speaker goes over the various principles of the bioinformatics pipeline.
Mark Routbort, MD, PhD, University of Texas MD Anderson Cancer Center, Houston, TX, US
Objectives:
- Upon completion, participants will be able to understand important features that distinguish technical artifacts from valid calls.
- Upon completion, participants will be able to understand the key concepts of variant classification and interpretation.
- Upon completion, participants will have knowledge of different informatic approaches underlying variant annotation and classification.
Duration: 1.50 hr
Recording Date: November 8, 2019
CME/CMLE credit: 1.50 hr
Last day to purchase course and CE claim credit: December 24, 2022
