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LD and complex diseases: LD between a marker and the (unknown) genetic variant

LD and complex diseases: LD between a marker and the (unknown) genetic variant contributing to the disease underlies the association approach (i.e., comparing allele frequencies between cases and controls). And remember one can select tag-SNPs ….

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LD and complex diseases: LD between a marker and the (unknown) genetic variant

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  1. LD and complex diseases: LD between a marker and the (unknown) genetic variant contributing to the disease underlies the association approach (i.e., comparing allele frequencies between cases and controls)

  2. And remember one can select tag-SNPs… a. Short stretch of DNA for 4 different people – 3 SNPs are present b. Haplotypes made up of a combination of different alleles at 20 nearby SNPs c. Genotyping just 3 “tag” SNPs can distinguish all 4 haplotypes

  3. G A Diploid T C SNP1 SNP2 Haplotyping: Phase Problem Observed: SNP1 G/T SNP2 A/C Possible Haplotypes: GA, TC or GC, TA n SNPs  2n possible haplotypes

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