Exomes on the go – adventures with wANNOVAR

Going cloud. This post is about my most recent discovery when I was trying to modernize some of the bioinformatics tools that I had on my laptop. My experience with variant annotation is a good example of the latest trend in bioinformatics: replacing precise, but difficult-to-use tools by web-based convenience – I didn’t need to install anything after all. This is a brief journey into the world of variant annotation, taking advantage of my new favorite tool, wANNOVAR and applying it to the Epi4K dataset. Continue reading

Exome shock with acute in-house deficiency

Sleep disturbances, double vision, writer’s cramp. As some of you might recall, I was not fully conscious during our Young Investigator’s meeting two weeks ago, spending most of the time in a haze either hacking random commands into my laptop with sweaty palms or desperately trying to communicate with my neighbor in Unix, Perl or Loglan. Ever since then, people have remarked that I have lost weight and that I haven’t smiled since. What has gotten a hold of me? It all started out with a small, innocent hard drive that made its way from Antwerp to Kiel. Continue reading