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?

news

An $38 million partnership will study thousands of people in Africa to discover how genes and the environment interact in the development of diseases. 23/06/10

The study has uncovered 15 new regions of the genome involved in blood cell development and a genetic variant that increases the risk of heart disease. 14/10/09

features

Image for The numbers game: Copy number variation and diversity
A map of copy number variation in the human genome shows that we are genetically more diverse than expected. 17/04/07
Image for Haplotype mapping ethics
The International HapMap Project has been mindful of the social and ethical implications of the map from its inception. 20/03/03

background

Image for 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
Finding the rough position of human disease genes relative to known genetic markers. 20/03/03
"A hunter-gatherer baby born thousands of years before the wheel was invented would be biologically capable of growing up to become a lawyer or an accountant." Paul Martin
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