People wants to know about their genes. Major genetic testing companies like 23andme already have more than 1 million customers, each receiving a standardized analysis and the ability to download an excel sheet with the 0.7M genotyped genetic variants in their genome, along with various analysis methods found on their site.
However, we can do it better than that. Using cutting-edge computer algorithms - "imputation calculations" - it is possible to extract confident knowledge of more than 4 million genetic variants, purely based on the basic package provided by e.g. 23andme, as well as large ethnicity-specific input from large public scientific projects such as the 1000 genomes project.
The idea for this webpage/server/analysis-service is therefore to start out with an imputation of each users genome, which already is a benefit - 4M known variants for free, when you only knew 0.7M. With the imputation available however, one can proceed with a much more up-to-date genetic analysis, which is not limited by what was originally genotyped. Through my work as a genetic scientist, I do this routinely for research purposes. My idea here is to make each analysis a module written by an expert in the field. I have myself already made a working test engine for the first step imputation (www.impute.me). Additionally I've participated in some genetic-height studies, and therefore made a height-analysis module (http://www.impute.me/gene-surfer/guessMyHeight/). These will be expanded with entries written by me and my colleagues on an interest basis - I already know several who have expressed interest in writing up a trait-module: hair-colour, super-rare insanity traits, etc etc.
The funding will go towards the payment of an amazon EC2 cluster. These algorithms take quite a lot of computer power, and while I can afford to have one-genome-a-day-capacity server running myself, I'd like to be able to scale it up. The funding will also pay a freelance webdesigner to make a better interface than the current barebones-one.
Risks and challenges
I hope people will realize that this is genetics, and not some 100% certain medical diagnosis vehicle. I've taken care to write that up front, that it is for interest and education. That said - I do believe much more can be gained than what is currently available online.Learn about accountability on Kickstarter
- (60 days)