This past Wednesday, phase 1 findings of the ambitious 1000 Genomes Project were published in Nature Magazine. With the publication of this data, researchers have now successfully amassed the single-most complete inventory of human genome variations ever.

Originally launched in January 2008, the publication of these findings marks an incredible milestone for the consortium of researchers who make up the 1000 Genomes Project. Their team has now sequenced the genomes of more than 1,000 individuals from across 14 populations. And thanks to their (so far) four years of work spanning multiple countries and continents, we now have a more complete understanding of 99% of the different variations in the human genome.

Perhaps the most noteworthy piece of information to come from this research is the potential impact of these findings on the future of diagnostics and personalized medicine. The knowledge of these different genetic variations have already provided researchers with clues as to which variations play a role in the development of certain diseases and disorders, such as heart disease, diabetes, and bipolar disorder. If and/or when researchers can successfully isolate the cause of these variations, we could be looking at findings that dramatically change the way people receive treatments for medical conditions in the future.

With phase 1 now behind them, the team has set their sights on phase 2 of the project. This phase requires they sequence the genomes of an additional 1500 people globally. As of now, the team feels that they have enough data to represent the 14 populations already sequenced. For phase 2, their goal is to sequence a total of 2500 genomes, where the additional 1500 persons would come from populations not covered during phase 1 or those which may require a deeper research dive. By focusing on these new populations and territories, researchers will be able to increase the overall geographic coverage provided by their data. 

To learn more about the 1000 Genomes Project, you can visit the consortium’s official website here.