Required Pre-requisite: MEDG 580
Offered: Summer 2021 (May 10, 2021 – August 20, 2021)
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.
- Systematically appraise candidate variant lists to identify a likely causative variant.
- Select and discriminate between databases, tools, literature, and best practices to determine variant pathogenicity.
- Assess and present genomic findings, including evidence for and against specific variants and potential clinical significance.
- Differentiate between research and clinical variant interpretation processes, and categorize the strengths and limitations of GWS in each setting.