1000 Genomes Project

For as long as I can remember my parents have been telling me that I'm special (in a good way, not in the derogatory way the kids are using the term these days). Most of us start life out thinking that we're unique and the more we learn about life, and the more it kicks out asses we become so disillusioned that we cease believing we're really all that special.

But, new data generated by the 1000 Genomes Project recently confirmed that our parents have been right all along. The 1000 Genomes Project is an effort to sequence the genes of 2,500 people from around the world in an attempt to fill the gaps in the draft sequence of the human genome left by genetic variation. 

The draft sequence was established in 2000 by teams led by J. Craig Venter and Francis Collins. While that was a breakthrough moment in the field of genetics because it enabled the study of diseases caused by changes in our DNA, it only took us so far. 

Genetic variation refers to the differences in the human genome between individuals (ie: if my code is AGTCAGTC, yours might be AGCCAGTC). That kind of a difference can have a huge impact on how disease manifests itself, therefore studies looking for treatments for genetic-based disorders (Alzheimer's, Parkinson's Disease, Cancer, etc.) are hindered by these variations. 

The new data obtained by the 1000 Genomes Project, is a 95% map of human genetic variation. The results of the study show that each individual person has an average of 75 variations (single nucleotide polymorphisms, or SNPs, which are changes in the code like I described above). These variations are essentially what makes each of us different from everyone around us. My parents were right, I am special, but something tells me they weren't referring to my genes. 

This is exciting for a few reasons:

1. Millions of dollars have been invested in this project, it is good to see something actually come of it. 

2. A better understanding of variation can enable more progressive research on genetic disease, from causes to treatments. 

3. Genome sequencing technology is advancing quickly, and making interesting research like this a reality. Expect more projects like 1000 Genomes, it's definitely about to get ambitious in here. 

4. A project like this sets important standards for open access information and data sharing among researchers for genetic studies at this scale. 

Read more: 

Nature: 1000 Genomes Project reveals human variation

The BBC: 1000 Genomes Project Maps 95% of all Gene Variations

Telegraph (UK): Scientists from 1000 Genomes Project have identified 95 per cent of genetic variations