Human Variation and Disease will be an in-depth study of the types of DNA variation found in the human genome, including single nucleotide (SNVs), copy number (CNVs), and structural variants (SVs), at both the individual and population scale. This course will discuss the impact of highly penetrant variants on human health, especially as it relates to rare diseases, and the impact of common variation on complex traits and diseases. Topics in this course will include the technologies used to detect DNA variants and to diagnose genetic disease in all types of clinical settings, from prenatal to adult, and the ethical considerations of genetic and genomic testing.
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