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A variable genome

The human genome is remarkably similar between different people, but small differences can have big impacts. What are these variations, and how are they uncovered?

Background

Image for Haplotype mapping
Haplotype mapping
Haplotypes, groups of closely linked alleles that tend to be inherited together, can be used to map human disease genes very accurately. 20/03/03
Image for Linkage analysis
Linkage analysis
Finding the rough position of human disease genes relative to known genetic markers. 20/03/03
Image for Mutation or polymorphism?
Mutation or polymorphism?
DNA sequence variations are sometimes described as mutations and sometimes as polymorphisms. What is the difference? 20/03/03
Image for Simple sequence repeats
Simple sequence repeats
In some places in the genome, the same sequence is repeated over and over again. 20/03/03
Image for Single nucleotide polymorphisms (SNPs)
Single nucleotide polymorphisms (SNPs)
The most common type of variation in the human genome, where a single base differs between individuals. 20/03/03