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Genome Evolution © Amos Tanay, The Weizmann Institute
Reading
• Course slides on the web
• Hartl and Clark, Principle of population genetics
• Rick Durret – Probability models for DNA sequence
evolution
• Gillespie – Pop. Genetics, A concise guide
• Hein et al. - Gene Genealogies, Variation and Evolution:
A Primer in Coalescent Theory
• Wakeley: Coalescent Theory, an introduction
• Graur and Li: Intro to molecular evolution
• Classics: Kimura, Dobzhanski..
Genome Evolution © Amos Tanay, The Weizmann Institute
Studying Populations
Models
A set of individuals, genomes
Ancestry relations or hierarchies
Experiments mtDNA human migration patterns
Fields studies, diversity/genotyping
Experimental evolution
Åland Islands, Glanville fritillary population
Genome Evolution © Amos Tanay, The Weizmann Institute
Human population
Growth:
Year -10,000 0 1750 1950 2010
Estimate 6 252 771 2521 6055
(Millions)
Genome Evolution © Amos Tanay, The Weizmann Institute
The Data: the hapmap project
1 million SNPs (single nucleotide polymorphisms)
4 populations: 30 trios (parents/child) from Nigeria (Yoruba - YRI)
30 trios (parents/child) from Utah (CEU)
45 Han chinease (Beijing - CHB)
44 Japanease (Tokyo - JPT)
Haplotyping – each SNP/individual.
No just determining heterozygosity/homozygosity – haplotyping completely resolve the
genotypes (phasing)
Genome Evolution © Amos Tanay, The Weizmann Institute
The Data: the hapmap project
Because of linkage, the partial SNP Map largely determine all other SNPs!!
The idea is that a group of “tag SNPs” Can be used for representing all genetic Variation in the
human population.
This is extremely important in association studies that look for the genetic cause of disease.
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