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This is a recording of a session from the AMP 2018 Annual Meeting & Expo. Purchase the entire AMP Annual Meeting & Expo 2018 Recordings for a significant discount!
BioInformatics pipelines are an integral component of next generation sequencing (NGS) assay. There is, however, significant variability in how bioInformatics pipelines are validated in the global molecular genetics and pathology community in the absence of published guidelines. To address this unmet need, the Association of Molecular Pathology (AMP), with liaison representation from the College of American Pathologists (CAP) and the American Medical Informatics Association (AMIA), has developed a set of best practice consensus recommendations for the validation of clinical NGS bioInformatics pipelines. This sessions will discuss the guidelines and approaches to implementing these guidelines in the molecular pathology laboratory..
AMP Guidelines for Validating Next Generation Sequencing Bioinformatics Pipelines
Somak Roy, MD, University of Pittsburgh Medical Center, Pittsburgh, PA, USA
Alexis B. Carter, MD, Children's Healthcare of Atlanta, Atlanta, GA, USA
Objectives:
- Apply the recommendations from the recent joint consensus (AMP, CAP, AMIA) guideline for design, optimization and familiarization, and clinical validation of the NGS bioInformatics pipeline.
- Use the recommendations to successfully create a sample/variant cohort for clinical validation of the bioInformatics pipeline.
- Employ strategies to incorporate security of protected health information, preservation of sample identity, and data integrity of sequence files during validation and implementation of the pipeline.
Duration: 0.75 hr
Recording Date: November 3, 2018
Last day to purchase: December 31, 2021
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