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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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