Red Johanna Day – The signal and the noise

Predictions. December 17th is the day that I consider my annual anniversary in epilepsy genetics. Exactly eight years ago, I was still a student in my final med school year and went to Australia for a job interview. We took a road trip over the weekend and on the evening of the 17th, I was reading Nigel Tan’s review on epilepsy genes aptly entitled The truth is out there while sitting in a rock pool at Red Johanna Beach, a surfing beach at the Great Ocean Road south of Melbourne. Looking back, I think this was one of the few publications that helped me make sense of all the literature on epilepsy association studies. I thought that I would like to be able to write something like this while shivering in the waters of the Bass Strait that are always a little bit too cool. Today, sitting in the cozy warmth of our apartment in Kiel, I have finished reading Nate Silver’s book The Signal and the Noise, a book about making sense of data and predictions. Eight years later, are we any closer to the truth that is out there? Continue reading

Predicting the effects of mutations

From left to right: Sean Mooney, Rachel Karchin, Andre Frank, Shamil Sunyaev, Emidio Capriotti.

How well can we predict the effects of mutations that change the protein sequence? Framed by the the ISMB conference, the largest bioinformatics conference the SNP special interest group met on Saturday the 14th, 2012,  moderated by Emidio Capriotti and Yana Bromberg to discuss current state of the art. Here’s a summary with links a set of tools to try if you study variants.

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