The Human Genome Project was a huge success when it was completed; a large amount of data was compiled and a stunning amount of interesting questions were raised. One of these was: how much variety is carried in each person’s genes? The 1000 Genomes Project seeks to answer this.
Over the past few years a team of scientists have been analysing the genetic makeups of 1,092 people from a wide variety of populations around the world, and its results have been surprising:
In total, 38 million variants of the single-base-type were found, around two thirds of which are newly discovered, and a significant percentage of those are rare. How rare? A rare variant has a probability of being seen of 0.5. That means half a person in 100 people will have a particular rare variant.
While “it’s almost unimaginable that [they] wont make some contribution” to the matter of common diseases, says Cox of the University of Chicago, how exactly their role works is still under some debate. In trying to get a handle on how they might affect the inner workings of us humans they discovered that around one quarter of the rare variants are expected to have functionally damage proteins, and of the 76 to 190 rare variants any one person may carry, around 20 are thought to make a protein completely inactive or to stop its biosynthesis in the first place.
While the project may seem to be thoroughly underway, it has a long way to go before it can be considered complete. They aim to have cataloged 2,500 people, so that their information can become much more clinically useful.
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