Advanced Medical Genetics: Genomics

1 Unit

The purpose of this half-semester course is to focus on genomic approaches and technologies which have greatly expanded our understanding of not only rare genetic disorders but common ones as well. We will focus on understanding the clinical implications of the interpretation of next generation sequencing results, identify limitations of genomic technologies, and practice curation/annotation and interpretation of genomic testing results. In addition, we will discuss resources and bioinformatics tools including national databases and clinical labs to aid in the interpretation of genomic test results including variants of uncertain significance. Prereq: GENE 524 .