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Description:
Molecular testing using high-throughput sequencing technologies is becoming a common practice for personalized care of patients with cancer. Rendered interpretation of detected variants in an oncologic molecular assay has a significant impact on tumor diagnosis, choice of therapy and risk stratification. However, the rate of identification of novel and rare variants by high-throughput sequencing outpaces our current understanding of the cancer genome and available variant databases. As a result, there is a lack of a standardized approach to interpretation of somatic variants. In January 2017, a joint consensus of a working group comprised of members from the Association for Molecular Pathology (AMP), College of American Pathologists (CAP) and American Society of Clinical Oncology (ASCO), published the guidelines for the interpretation and reporting of somatic variants. This talk will discuss the fundamental informatics concepts of variant interpretation and reporting in the context of this recent guidelines.
Learning Objectives:
- Apply the recommendation from the recent joint consensus (AMP, ASCO, CAP) guideline for interpretation and reporting of somatic variants in clinical cancer testing.
- Employ appropriate informatics strategies for optimized annotation of sequence variants to ensure accurate variant interpretation.
- Review and identify limitations of public and proprietary genome and variant databases before incorporation into bioinformatics pipeline for clinical use.
Speaker: Somak Roy, MD
Host: Anthony Snow, MD
Duration: 1.00 hr
Level of Instruction: Basic
Recording Date: August 23, 2017
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