Standards and Guidelines for Validating Next Generation Sequencing Bioinformatics Pipelines: A Joint Recommendation of the Association for Molecular Pathology and College of American Pathologists

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This content was created in 2018, but has been reviewed and approved by the Training & Education Committee as useful, accurate, and relevant. Please note that in the time since this material was posted, there may have been additional developments, advancements, and/or more current publications in this field.

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Description: 

Bioinformatics pipelines are integral components of next-generation sequencing (NGS) assays. Until recently, a lack of guidelines caused significant variability in how pipelines were validated in the molecular genetics and pathology community. To address this important issue, Association for Molecular Pathology (AMP) with liaison representation from the College of American Pathologists (CAP), and the American Medical Informatics Association (AMIA) released Standards and Guidelines for Validating Next-Generation Sequencing Bioinformatics Pipelines in January 2018. In this webinar, Dr. Somak Roy and Dr. Alexis Carter will highlight some of the important recommendations.

Learning Objectives:

  • Discuss how the recommendation from the recent joint consensus guideline applies to the design, optimization and familiarization, and clinical validation phases of the bioinformatics pipeline.
  • Apply 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.

Practice Guideline Available Here

Speakers: Somak Roy, MD and Alexis B. Carter, MD
Moderator: Justin Zook, PhD
Duration: 1 hr
Level of Instruction: Basic
Date Recorded: April 20, 2018

Continuing Education Credit Information

CE Credit for this course has expired.

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