AUG 21, 2014 6:45 AM PDT

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

Speaker

Abstract

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.

LEARNER OBJECTIVES:
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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AUG 21, 2014 6:45 AM PDT

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



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