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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.

Practice Guideline Available Here

Speakers: Somak Roy, MD and Alexis B. Carter, MD

Moderator: Justin Zook, PhD

Duration: 1 hr

Level of Instruction: Basic


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Course Information
Course Date:
April 20, 2018
Course 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.
Standards and Guidelines for Validating Next Generation Sequencing Bioinformatics Pipelines
Speaker Information
Alexis B. Carter MD  [ view bio ]
Somak Roy MD   [ view bio ]
Individual topic purchase: Selected
Roy and Carter Presentation
AMP Regular Member: $0.00
AMP Technologist Member: $0.00
AMP Associate Member: $0.00
Non-member Price: $195.00