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


	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

	Linkage analysis Finding the rough position of human disease genes relative to known genetic markers. 20/03/03

	Mutation or polymorphism? DNA sequence variations are sometimes described as mutations and sometimes as polymorphisms. What is the difference? 20/03/03

	Simple sequence repeats In some places in the genome, the same sequence is repeated over and over again. 20/03/03

	Single nucleotide polymorphisms (SNPs) The most common type of variation in the human genome, where a single base differs between individuals. 20/03/03

"Frankly we don't have the foggiest what they do." Ewan Birney on 'ultra-conserved elements'

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Glossary


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