Applied Variant Interpretation (MEDG 585)

MEDG 580 is a required pre-requisite.

Last Course Offering: January – April 2025

Credits: 3

MEDG585: Applied Variant Interpretation

Develop technical and critical thinking skills necessary to move from a curated candidate gene list obtained through genome-wide sequencing (GWS) to a likely diagnosis. Working with real data sets and a clinical lens, build on knowledge to determine variant pathogenicity and clinical significance. Through a critical appraisal of bioinformatics tools, databases, guidelines, and functional studies, gain a deeper appreciation of research and clinically-oriented variant interpretation.

Learning outcomes:

  1. Systematically appraise candidate variant lists to identify a likely causative variant.
  2. Select and discriminate between databases, tools, literature, and best practices to determine variant pathogenicity.
  3. Assess and present genomic findings, including evidence for and against specific variants and potential clinical significance.
  4. Differentiate between research and clinical variant interpretation processes, and categorize the strengths and limitations of GWS in each setting.