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


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
 1 hr
Level of Instruction: Basic
Date Recorded: April 20, 2018

Continuing Education Credit Information

CME credit: 1.0
CMLE credit: 1.0
SAM credit : 1.0
Last day to purchase course and claim credit: March 20, 2021
* You may not submit SAMs and CME/CMLE credit for the same content.

Accreditation Statements
AMA PRA Category 1 Credit(s)™
This activity has been planned and implemented in accordance with the Essential Areas and policies of the Accreditation Council for Continuing Medical Education through the joint providership of American Society for Clinical Pathology (ASCP) and Association for Molecular Pathology (AMP). The American Society for Clinical Pathology (ASCP) is accredited by the ACCME to provide continuing medical education for physicians.

The ASCP designates this enduring material for a maximum of 1.0 AMA PRA Category 1 Credit(s)™. Physicians should claim only credit commensurate with the extent of their participation in the activity.

This continuing medical laboratory education activity is recognized by the American Society for Clinical Pathology for 1.0 hours of CMLE credit. ASCP CMLE credit hours are acceptable for the ASCP Board of Certification (BOC) Certification Maintenance Program (CMP). CMLE credit hours meet the continuing education requirements for the ASCP Board of Certification Credential Maintenance Program (CMP) and state relicensure requirements for laboratory personnel. Participants should claim only the credit commensurate with the extent of their participation in the activity. 

This course is approved by the American Board of Pathology for 1.0 SAM credits. Physicians should only claim credit commensurate with the extent of their participation in the activity. Participants must successfully complete the online modular exams (answering at least 80% of the questions in a topic module correctly).

Note: Members of AMP can access this webinar at no cost. Join the AMP Family!

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