Written Assignment (Due Week 9)

Identify a research article that links a genetic alteration with a discrete phenotype. Examples include a mutation that affects susceptibility for a disease you are interested in learning more about or a single-nucleotide change that is associated with a particular behavior or trait. In the introduction, describe the hypothesis that was tested and why the study was performed. In subsequent paragraphs, discuss the experimental design, the methods used and the experimental controls. What is the key experiment that drives the major conclusions of the paper? What controls were performed? Are any important control experiments missing? Do the data presented in the paper compel the conclusions? Are there additional experiments that you would want to perform when studying this association? Can you identify flaws in the conclusions or the methods? The goal of this assignment is to practice critically evaluating the scientific literature linking genetic polymorphisms with associated phenotypes. The paper should be two single-spaced pages with 1" margins in 12-point Times font.

Oral Presentation (Due in the Final Class)

Select a single-nucleotide polymorphism either from one of the provided reference samples in the 23andMe dataset or from your own genetic analysis. Compare the provided genetic information from the company regarding how closely the single-nucleotide polymorphisms are linked with a particular condition or trait with what you are able to learn from a paper in the primary literature. Consider whether there are other single-nucleotide polymorphisms or environmental factors that should be evaluated when estimating risk of developing this trait or condition in addition to the ones mentioned by 23andMe. Prepare a 15-minute presentation using PowerPoint or a similar program to evaluate how these two sources of information compare. The topic and paper should be discussed with the instructor at least two weeks prior to the due date.

There are several goals for this assignment:

  • First, to understand the information provided by the genomics company in terms of how the sequencing was performed and what the results mean.
  • Second, to understand the scientific basis for these genetic associations by reading the scientific literature.
  • Third, to evaluate whether information provided to individuals who order these genetic tests is accurate.

In the introduction of your talk, you should introduce the single-nucleotide polymorphism examined and the consequences of having different alleles for this gene. In the next section you should introduce the paper that you have found and summarize the context and major conclusions of the study. What methods were used in the study? How did they differ from the methods used in the reference sample? Is the information provided by 23andMe accurate? Is there a way to communicate this information more effectively to individuals who have genetic testing performed? Be prepared to address questions from the audience about the topic that you have selected.