Genome Wide Association Studies and Polygenic Risk Scores

Question 1

What are GWAS useful?

Answer 1

Detailed quality control possible
Findings unlimited
Statistical framework clear
Replicated associations made

Question 2

What are the 3 types of polymorphisms?

Answer 2

SNP - single base change
Variable number tandem repeats - nucleotide repeated in genome
Copy number polymorphisms - blocks deleted
Indels - Insertions and deletions
Inversions - difficult

Question 3

What is linkage disequilibrium?

Answer 3

A non-random association of alleles at two or more loci in w general population where the haplotypes do not occur in expected frequencies

Question 4

What is a polygenic risk score?

Answer 4

A score that predicts an individuals risk of disease based on the combination of their genotypes and effect size estimates from GWAS results