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ASHG Webinar: Bioinformatics Tools for NGS Data

What: An ASHG Webinar: Technical and Validity Measures for NGS Data - Community Tools and Standards

When: Wednesday, February 24, 2016, 2:00-3:00 pm U.S. Eastern Time

Who: ASHG members, FDA Staff, Lab Directors from academia and the private sector, Clinical Geneticists, Genetic Counselors, and Payers


This webinar offers an introduction to currently available bioinformatics tools for use with next-generation sequencing (NGS) testing, including the National Institute of Standards and Technology’s Genome in a Bottle and the new precisionFDA tool. Join us for a discussion about how these tools might promote the advancement of NGS testing in both clinical and research settings, as well as their possible use for furthering regulatory science.


In this webinar, participants will learn to:

  • Identify metrics and measures that are useful in assessing the validity and quality of data from NGS platforms
  • Apply reference materials and standardized methods to characterize human genomes and assess the accuracy of variant calls
  • Use an open community platform to experiment, share data and tools, collaborate, and suggest standards for evaluating NGS analytical pipelines

Invited Speakers:

  • Niall Lennon, PhD
    Senior Director, Translational Genomics, Genomics & Clinical Research Sequencing Platform, Broad Institute of MIT & Harvard
    “Considerations for NGS Data Qualification”

  • Justin Zook, PhD
    Chair, Global Alliance for Genomics and Health Benchmarking Team; Co-Leader, Genome in a Bottle Consortium
    “Best Practices for Using Genome in a Bottle Reference Materials”

  • Taha Kass-Hout, MD, MS
    Chief Health Informatics Officer, Director of the Office of Health Informatics, U.S. Food and Drug Administration
    “PrecisionFDA: A Crowdsourcing Model for Ensuring Accuracy of Genomic Tests”

  • Elaine Johanson
    Deputy Director, Office of Health Informatics, U.S. FDA; Program Manager, precisionFDA

Register Now


Questions? Karen Hanson, MS, ASHG Health Professional Education Programs Manager at



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