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The 1000 Genomes Project

Discovering human DNA variation

Geneticists can now sequence the DNA from hundreds of people. The 1000 Genomes Project gives us our first view of how this can be done and what it tells us about our DNA and about human variation. This project also paves the way for a new generation of medical genetic studies.

Figure 1 Decrease in gene sequencing costs in the last decade (based on data provided by Francis S. Collins, Director of the National Institute of Health, USA).

Human genetics Genome DNA sequencing SNP Structural variant

Our DNA is responsible for many aspects of the person we are. We inherit it from our parents and pass it on to our children. It is central to our health and appearance — whether we have cystic fibrosis or not, blue or brown eyes; it may even influence our behaviour or habits in subtle ways. Because of this link with our phenotype, scientists and doctors want to know the sequence of bases that make up this DNA — our genome. Then they should be able to make better predictions about the diseases to which we may be susceptible, or the medicines that would suit us best.

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A biochemist

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Thalidomide: rise, fall and resurrection

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