Genome Evolution Course – 2011
Human Genetic Variations
Topics
- The genetic nature of human
variation
- Humans differ
genetically in terms of height, skin and hair color, response to drugs, susceptibility
to diseases.
- Phenotype is an interplay between the genotype and environment.
- Whose genome was
sequenced?
- Single nucleotide
polymorphisms (SNPs)
- How genetically
different are any two individuals?
- Calculating, p, the nucleotide diversity.
- Mutations and
polymorphisms.
- How many SNPs in the
human population?
- The frequency
distribution of SNPs.
- Most SNPs are
non-coding.
- Quality and
completeness of the SNP databases
- In/dels,
microsatellites, and retrotransposons as
genetic variations
- Evolution is the change in
gene frequencies
- Locus, Alleles, Allele
frequency, and Gene pools
- No evolution -
Hardy-Weinberg equilibrium
- Natural Selection
- Deterministic models
for changes in frequency
- Dominance
- Recessive
- Codominance
- Balancing selection
- Genetic Drift
- Stochastic model for
changes in frequency
- Fixation and loss of
alleles
- Genetic drift removes
variation from the population
- Modeling genetic drift
with a binomial distribution
- Dependence on
population size
- Probability of
fixation
- Time to fixation
- Analogy with family
names
- Mutation
- Reading Human history
inscribed in our genomes
- Out of Africa
- Migration with mode
change to agriculture
- Variation within and
between populations
Suggested readings:
Assignment is due
April 5th
Back to the Genome
Evolution Course.
Itai Yanai, yanai@technion.ac.il