Introduction to statistical genetics: genetic risk scores

Topics

This week’s assignments will guide you through the following topics:

• What are polygenic risk scores and how can they help us understand genetic susceptibility to disease.
• Why polygenic risk scores have the potential to improve preventive medicine.

Reading

Please read the following:

• First paper to introduce polygenic risk scores (Read up to the paragraph discussing Figure 2)
• First paper to call clinical attention to polygenic risk scores (Read up to the paragraph discussing Table 2)
• First paper to call attention to racial bias in availability of clincially relevant polygenic risk scores (Read all main text)

Tasks

Download the 1000 Genomes genotype and phenotype (ask Tiffany for data over Slack: GD462.GeneQuantRPKM.50FN.samplename.resk10.txt.gz) data:

• what are the file extensions of the genotype data versus the phenotype data?
• what are the different fields of the genotype data?
• what software is commonly used by the genetics community to work with these file types?

Weekly Questions

Answer the following questions on Gradescope:

• In what ways can polygenic risk scores be utilized for preventive care?
• What are your favorite two reasons that polygenic risk scores are not ready to be deployed yet in the clinic?