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GENEĀ 526. Advanced Medical Genetics: Quantitative Genetics & Genomics. 2 - 3 Units.

The purpose of this course is twofold: first, to provide a foundation in quantitative genetics and second, 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 cover concepts related to risk assessment and calculation and its application to medical genetics including principles and application of Hardy Weinberg equilibrium as well as applying Bayes' Theorem as a mechanism to refine risk assessment based on data specific to a patient. We will also 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. Students who register for 3.00 credit hours are required to do an additional paper.