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340.733.01 Principles of Genetic Epidemiology 3

3rd term
3 credits
Academic Year:
2019 - 2020
East Baltimore
Class Times:
  • Tu Th,  9:00 - 10:20am
Auditors Allowed:
Yes, with instructor consent
Grading Restriction:
Letter Grade or Pass/Fail
Terri Beaty
Course Instructor s:

140.621-622 or 140.651-652; (2 courses in biostatistics and the first 2 courses in Genetic Epidemiology 340.731 & 340.732)


Concepts behind linkage and association studies in genome-wide studies, and demonstrates how they can be applied to complex qualitative and quantitative phenotypes (i.e. those where both genetic and environmental factors influence the phenotype). Introduces the principles underlying family-based and population-based study designs and analytical methods for both marker panels and sequencing data (whole exome and whole genome).

Learning Objectives:

Upon successfully completing this course, students will be able to:

  1. Explain the models for linkage and association analysis to map genes influencing risk to complex diseases and their associated phenotypes in both family and population-based studies
  2. Interpret combined and meta-analysis of genome-wide markers in large-scale consortium studies using summary statistics
  3. Use currently available software to check for structural errors in family data, estimate allele frequencies, check for Mendelian inconsistencies and describe familial aggregation of both qualitative and quantitative phenotypes
  4. Critically read and interpret published articles on genome-wide efforts to map genes controlling both qualitative and quantitative phenotypes using conventional epidemiologic study designs
  5. Explain how variance components models can be used to identify quantitative trait loci (QTL) used to map genes for quantitative phenotypes
  6. Describe various cutting-edge analysis of large-scale genome-wide association studies to inform biology, causality, and prediction
Methods of Assessment:

Homework assignments: 30%
Written critique of one paper: 25%
Individual presentation of research proposal: 25%
Group presentation of a second paper: 10%
Class participation: 10%

Instructor Consent:

Consent required for some students

Consent Note:

Advanced level genetics knowledge required

For consent, contact:

Jointly Offered With: