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Lecture notes

GEN 5: Mapping the genome
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Lecture notes from Imperial College London, Medical Biosciences BSc, 2nd year, genetics and genomics (GEN) module. These notes describe the ways in which genetic linkage maps and physical maps are generated and combined. I describe Genome-Wide Association Studies, which compare the genome sequen...

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  • October 4, 2023
  • 4
  • 2022/2023
  • Lecture notes
  • Andy porter
  • All classes

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Mapping the Genome
Overview
- genome map = diagram of chr and the relative positions of key features (genes, control regions..)
=> cytogenetic maps/ karyotypes: visual appearance of chr under a microscope when stained
=> light & dark bands: unique chr

lowest resolution (= the least detail)

=> genetic maps: position of a few genes (or DNA sequence polymorphisms) on various chr
=> by linkage analysis: genes are inherited together (co-inherited) if close on same chr
=> distance in centimorgans (cM) -
from same parent


=> logarithm of odds (LOD) scores: estimate of whether 2 genes are co-inherited (=> close)




=> physical maps: direct examination of DNA (restriction enzyme mapping, DNA sequencing...)
=> generate complete genome sequence + distance in bp
=> large genomes sequenced in segments


=> informative DNA sequence map
requires annotations from genetic
mapping, comparative genomics,
reverse genetics, CHIP-seq, GWAS...



The first linkage analyses
- 1913
- meiosis recombination (crossing over): separate alleles
=> parental phenotypes + recombinant phenotypes
- closer the genes, smaller chance they will be separated
=> less recombinant phenotypes

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