Lecture 2 - GWAS of cancer risk

Haky Im

2021-03-30

Categories: Lecture

Overview of the section

Learn concepts and tools to identify cancer susceptibility genes
Focus on germline risk factors

Recommended reading

Sud et al (see reference section). This review covers most of the concepts we want to cover in this class. We will learn by doing and unpack many of the concepts mentioned in the review. Hopefully, you will re-read the paper at the end of the class and realize how much you have learned.

Learning Objectives

Compare Linkage vs. association analysis
Describe the genetic architecture of cancer risk
Discuss Genome-wide Association Studies (GWAS)

Slides

Download the slides here

Homework

Define the following terms. You can use the definitions in the Sud et al review but use your own words. Provide a one sentence summary definition and if you need more, write a longer multiple sentence definition as well.
- heritability
- relative risk
- Mendelian disease
- cancer susceptibility genes
- penetrance
- risk allele frequency
- odds ratios
- linkage disequilibrium
- effect size
- pleiotropy

References

Claussnitzer, M., Cho, J.H., Collins, R. et al. A brief history of human disease genetics. Nature 577, 179–189 (2020). https://doi.org/10.1038/s41586-019-1879-7
Sud, A., Kinnersley, B. & Houlston, R. Genome-wide association studies of cancer: current insights and future perspectives. Nat Rev Cancer 17, 692–704 (2017). https://doi.org/10.1038/nrc.2017.82

Reuse

Text and figures are licensed under Creative Commons Attribution CC BY 4.0. The source code is licensed under MIT.

Suggest changes

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Citation

For attribution, please cite this work as

Haky Im (2021). Lecture 2 - GWAS of cancer risk. BIOS 25328 Cancer Genomics Class Notes. /post/2021/03/30/lecture-2/

BibTeX citation

@misc{
  title = "Lecture 2 - GWAS of cancer risk",
  author = "Haky Im",
  year = "2021",
  journal = "BIOS 25328 Cancer Genomics Class Notes",
  note = "/post/2021/03/30/lecture-2/"
}