BIOMG 4870

Human Genomics

Course Description

Course information provided by the Courses of Study 2024-2025.

Applies fundamental concepts of transmission, population, and molecular genetics to the problem of determining the degree to which familial clustering of diseases in humans has a genetic basis. Emphasizes the role of full genome knowledge in expediting this process of gene discovery. Stresses the role of statistical inference in interpreting genomic information. Population genetics, and the central role of understanding variation in the human genome in mediating variation in disease risk, are explored in depth. Methods such as homozygosity mapping, linkage disequilibrium mapping, and admixture mapping are examined. The format is a series of lectures with classroom discussion. Assignments include a series of problem sets and a term paper.

When Offered Fall.

Prerequisites/Corequisites Prerequisite: BIOMG 2800.

Distribution Category (BIO-AS) (OPHLS-AG)

• Become familiar with technologies for genome assembly, single-nucleotide polymorphism discovery, and SNP genotyping.
• Learn basic principles of population genetics as they relate to human genetic disorders segregating in a population.
• Become able to perform simple linkage analysis by LOD scoring.
• Acquire skills to solve quantitative problems in human population genetics.
• Develop understanding of how genome-wide association testing works, and its limitations.
• Learn how admixture mapping works and be able to apply it when appropriate.
• Develop an appreciation for the latest work in human origins, including Neanderthal and Denisovan Genomes.

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