Comprehensive Genomics, Epigenomics, and
Personal Genomics Study Guide Exams #1 Questions with Correct
Answers
Why do we do GWAS? - ✔✔To find common variants of moderate effect across
the genome linked to traits and diseases.
What is the CD-CV hypothesis? - ✔✔Common diseases are caused by common
variants, each with small effects, leading to complex diseases.
What is 'missing heritability'? - ✔✔The gap between genetics and environmental
influence on trait variance in a population.
What traits are best for predictive genetics? - ✔✔Genetic traits with high
heritability, like BRCA1 mutations.
How do disease-predisposing alleles become common? - ✔✔Through genetic drift
or natural selection.
What are the differences between case-control and cohort study designs? -
✔✔Cohort studies track disease-free individuals over time, while case-control
studies compare existing cases and controls.
Why are tagSNPs important for GWAS? - ✔✔They capture genetic variation in
blocks due to linkage disequilibrium.
, Why might tagSNPs from European populations not work for African populations?
- ✔✔Due to population stratification and less genetic variation in African
populations.
Does a significant SNP association imply causation? - ✔✔No, it indicates
correlation, not causation, often due to linkage disequilibrium with a causal
variant.
What is minor allele frequency (MAF)? - ✔✔The frequency of the less common
allele in a population, typically over 5%.
Why are standardized phenotype rules important for GWAS? - ✔✔They enhance
statistical power and ensure accurate replication across studies.
What challenges are associated with GWAS? - ✔✔Missing heritability, population
stratification, and lack of diversity.
What is the null hypothesis in GWAS analysis? - ✔✔There is no association
between the SNP and the trait or disease.
What does an alpha value of 0.05 mean? - ✔✔There is a 5% probability of
incorrectly rejecting the null hypothesis.
What is a false positive in GWAS? - ✔✔When a SNP is incorrectly identified as
significantly associated with a trait.
Personal Genomics Study Guide Exams #1 Questions with Correct
Answers
Why do we do GWAS? - ✔✔To find common variants of moderate effect across
the genome linked to traits and diseases.
What is the CD-CV hypothesis? - ✔✔Common diseases are caused by common
variants, each with small effects, leading to complex diseases.
What is 'missing heritability'? - ✔✔The gap between genetics and environmental
influence on trait variance in a population.
What traits are best for predictive genetics? - ✔✔Genetic traits with high
heritability, like BRCA1 mutations.
How do disease-predisposing alleles become common? - ✔✔Through genetic drift
or natural selection.
What are the differences between case-control and cohort study designs? -
✔✔Cohort studies track disease-free individuals over time, while case-control
studies compare existing cases and controls.
Why are tagSNPs important for GWAS? - ✔✔They capture genetic variation in
blocks due to linkage disequilibrium.
, Why might tagSNPs from European populations not work for African populations?
- ✔✔Due to population stratification and less genetic variation in African
populations.
Does a significant SNP association imply causation? - ✔✔No, it indicates
correlation, not causation, often due to linkage disequilibrium with a causal
variant.
What is minor allele frequency (MAF)? - ✔✔The frequency of the less common
allele in a population, typically over 5%.
Why are standardized phenotype rules important for GWAS? - ✔✔They enhance
statistical power and ensure accurate replication across studies.
What challenges are associated with GWAS? - ✔✔Missing heritability, population
stratification, and lack of diversity.
What is the null hypothesis in GWAS analysis? - ✔✔There is no association
between the SNP and the trait or disease.
What does an alpha value of 0.05 mean? - ✔✔There is a 5% probability of
incorrectly rejecting the null hypothesis.
What is a false positive in GWAS? - ✔✔When a SNP is incorrectly identified as
significantly associated with a trait.
