Data Analysis

What is the mathematical function for discrete variables?

Probability mass function

What is the mathematical function for continuous variables?

Probability density function

What are the three types of probability distributions?

Binomial, poisson, normal

What is lambda in poisson distribution?

rate

Is normal distribution discrete or continuous?

continuous

What is the symbol for parameter?

theta

What is a parameter

Fundamental property of system of interest

What is a statistic?

Quantity measured from a sample

What is a stochastic process

A process that produces randomness

What does Baye’s Rule test?

How probable the data is given different results

What is a type 1 error

Rejecting the null when the null is true

What is a type 2 error

failing to reject the null when its false

What is B sub 0 in linear regression?

intercept

What is B sub 1 in linear regression?

slope

Where is methylation measured?

CpG sites

What is the acronym for the assumptions made in linear regression?

LINE

L in LINE

the relationship is linear

I in LINE

the errors are independent

N in LINE

Errors are normal

E in LINE

equal variances

What is error sum of squares (SSE)?

Total sum of squares (SST) - Regression sum of squares (SSR)

What is SSE the same as

Q, the sum of the squared residual error

what is the sign of r?

the same as the slope

What is simpson’s paradox?

Hidden structures in your data when computing the line of best fit.

Rare events with large number of opportunities, what two distributions converge?

binomial and poisson

What is linkage disequilibrium?

Non-random association of alleles at different loci

What GWAS is used for continuous phenotypes?

Quantitative

What GWAS used for discrete phenotypes?

Case-Control

What is the alpha for genome-wide alpha for tests

5 × 10^-8

What are the four evolutionary factors that change allele frequencies across generations?

Mutation, drift, selection, migration

What is the site frequency spectrum (SFS)

A histogram that bins genetic variants by

their allele frequencies

What is waterson’s theta?

The average number of segregating sites in the population

What does Tajima’s D test for?

Neutrality

What is theta hat sub pi?

Nucleotide diversity

Tajimas D is zero

No selection

Tajimas D is positive

Population bottleneck, balancing selection

Tajimas D is negative

Population expansion, selective sweep

What is Fst

Measure of genetic differentiation

What does Fst describe?

Observed reduction in heterozygosity in subpopulations relative to total population

How does Fst act over time

Increases

ABBA-BABA, which matches human 1

BABA

ABBA-BABA, which matches human 2

ABBA

What is Adaptive Introgression?

Taking pieces from introgressed species and using them.