AUG 21, 2014 06:45 AM PDT

Practical Considerations for the Clinical Interpretation of Germline Sequence Variants in the Era of NGS

  • Clinical Molecular Genetics Fellow, Partners HealthCare Personalized Medicine
      Dr. McLaughlin is an Assistant Laboratory Director at Partners HealthCare Personalized Medicine's Laboratory for Molecular Medicine. She received a B.S. in Diagnostic Molecular Science from Michigan State University and a Ph.D. in Human Genetics from the University of Michigan. She completed a Clinical Molecular Genetics Fellowship at the Harvard Medical School Genetics Training Program. Dr. McLaughlin's clinical interests focus on molecular diagnostic testing for inherited cardiomyopathies and pulmonary disorders and the implementation of exome and genome sequencing into the clinical laboratory. She is also interested in exploring incidental findings in individuals undergoing genomic sequencing and developing reporting formats that will aid in the integration of genomic sequencing into clinical medicine.


    The advent of next generation sequencing technologies has revolutionized the clinical genetics laboratory. Labs offering NGS are faced with an onslaught of sequence variants which must be interpreted with respect to the patients indication for testing. In this presentation we will review how to evaluate population frequencies, conservation analyses, pathogenicity predictions, splicing predictions, and published literature, and learn how to synthesize these data to determine variant classifications. We will also discuss important considerations and common pitfalls in the interpretation process, and learn how to construct variant interpretations for clinical reports.

    After completing this activity, the learner will be able to:

    • Assign a variant classification for a sequence variant
    • Construct a variant interpretation

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