My personal and professional adventure into Science – Get four times as much information from your genome

Are you one of the people who bought a 23andme kit, and then ever since “wanted more”? Lasse Folkersen, one of my colleagues from CBS, is one of those people, but instead of just thinking about it, he actually did something about, and now he needs help on his recent Kickstarter project to back his imputation server.


Get four times as much information from your genome

Imputation is the name of a technology that is used in almost all major genetic studies today. Simply put it is a well-validated method of ‘guessing’ or imputing large parts of a non-measured genome, based on existing measurements from genotyping microarrays, as well as large reference databases such as the 1000 genomes project. From an input of 0.7M genotyped genetic variants, one typically gets knowledge of more than 4M new genetic variants.

However, the required command-line handling can be daunting to do this on a personal scale. That’s why an interesting new service called offers an easy interface to this technology. Upload your genome-data and get four times as much information back.That’s going from a large data file to an even larger data file.

But what can it then be used for? — the answer is broadly to get up-to-date with modern genetics research. Since most modern genetics studies use this technology, the majority of new findings are not available on basic direct-to-consumer microarrays, such as the ones offered by 23andme. So the second extension of the site is of course also to provide a selection of these novel analysis. A few basic analysis modes have already been implemented to show the added, benefit – such as for example a height-predictor, using the recent GIANT-consortiums findings on genetic variation of human height, as well as the ability to actually get the imputed data for this variation. However, the future idea is to provide many more of these modules – which are easily implementable, once the general imputation framework is in place.

Or – you could of course just enjoy your own personal 4 million extra data points in excel: the choice is yours, but there is no doubt that imputation is the way forward also for personal genomics.

You can see Lasses kickstarter project here.

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  1. Nicolas says:

    An explanation about how to use 23andme data in would have been helpful.

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