Quantitative

Question 1

What is the frequency of a disease allele for AD traits?

Answer 1

p= ~1/2 of incidence

Question 2

What is the frequency of a disease allele for AR traits?

Answer 2

q= square root of incidence

Question 3

For rare traits, how can we calculate the carrier frequency?

Answer 3

since p ~1, carrier frequency= 2q

Question 4

How do we calculate the coefficient of selection?

Answer 4

s= 1-f, where f= fitness

Question 5

What does a fitness of 0 or 1 indicate?

Answer 5

f=0 indicates complete selection
f=1 indicates no deleterious effect on reproduction

Question 6

What is heritability ?

Answer 6

statistical measure of the degree of variance which is attributed to genetics

Question 7

What is an approximation of risk for FDR of someone with a condition, with no other family hx?

Answer 7

square root of the frequency of the condition

Question 8

What increases the recurrence risk in family members?

Answer 8

affected individual has an earlier age of onset, are of the less frequently affected sex, experience more severe illness

Question 9

What gives the highest peaks on a Manhattan plot?

Answer 9

genetic variants most strongly associated with the phenotype

Question 10

What is the effect of low incidence on the significance of test results?

Answer 10

decrease in PPV