Cold fusion – joining exome datasets to identify autism genes

Mergers and acquisitions. Invariably, genetic research in neurodevelopmental disorders is moving towards joint analyses of large datasets. While the methodology of meta-analysis is well established for genome-wide association studies, the joint analysis of exome datasets comes with many question marks. Now, a recent paper in PLOS Genetics pioneers the field of joint exome data analysis for association studies in autism. This paper highlights some unexpected facets of rare variant analysis. Continue reading

5 good reasons for neuroblogging – The EuroEPINOMICS blog celebrates its first birthday

Growing up. Exactly one year ago, we got serious about blogging and started posting regularly on the EuroEPINOMICS blog. Since then, we have published 145 posts on various topics regarding epilepsy, genes and the life of a scientist. In this post, we just wanted to give you five good reasons why we keep on neuroblogging. Continue reading

What would my exome tell about me – a birth announcement

La famiglia. As you might already know, our family expanded two weeks ago with the arrival with our newborn son. Mother and baby are well and happy. As with all other newborns in Germany, our son got a heel stick on his third day of life for newborn screening. When my parents visited the following weekend and the kids were in bed one evening, we eventually ended up talking about screening, genome, disease and the possibility to make predictions from your genetic data. Therefore, looking forwards on life from the perspective of a newborn, what could we learn from exome/genome data and do we want to know it? Continue reading

Rare variants and olive trees

Epic dimensions. 5,000 years ago, human civilization was getting off the ground in Mesopotamia. At some point, the early human pioneers decided to use pictures as letters and human writing was invented. Ox became aleph, which became alpha, which turned into literature, which finally turned into blogging. At around the same time that the Mesopotamian people invented the direct precursor of modern day tweets and text messages, rare genetic variants started spreading through the human population. In fact, all the rare variation that we see in humans today, had probably not been present prior to the chiseling of the first human words. Continue reading

Exploring samtools – Green Eggs and Ham (*.bam)

That Sam I Am.  The entire field of high-throughput genomics appears to be inspired by the American children’s book author Dr. Seuss. Given that we are currently reading through the original books almost on a daily basis due to the presence of a toddler in our home, mentioning *.sam files, *.bam files or sam2bam routines always makes me smile. However, this is not a post about children’s books; it’s about a likely 2013 trend in genomic research, the redefinition of the boundary between genome center and end user and the laptopification of life sciences. Continue reading

Finding the difference: de novo mutations in schizophrenia

The story continues. This week, I am trying to catch up with a number of recent papers in the field of neurogenetics. A recent publication in Nature Genetics highlights the role of de novo mutations identified through exome sequencing in schizophrenia. The authors also look at control data and compare their findings with the growing body of data available for autism research. And while many aspects regarding de novo mutations become more clear with every study published, the real difference is sometimes difficult to grasp. Continue reading

De novo mutations in severe intellectual disability

Diagnostic exome sequencing. Severe intellectual disability (ID) is unexplained in the vast majority of patients and is thought to be genetic. The genetics of intellectual disability has traditionally focused on the X chromosome, where more than 100 possibly causative genes for ID are located. But other, autosomal genes are also found in large number of cases. A recent study in the New England Journal of Medicine now reports on trio exome sequencing in patients with unexplained severe intellectual disability. The authors identify causative de novo events in a large proportion of patients. Interestingly, more than half of their patients had epilepsy. Continue reading

Gamification of life science – The CAGI challenge

Everybody wins. The scientific publication process is not ideal to find the best bioinformatics methodology for a given problem. Most predictions are not performed blind as our data sets are so small that separating them in to several disjoints sets for training and testing purposes is not possible or sensible. The structural biology community has started to tackle the problems by establishing a competition called Critical Assessment of protein Structure Prediction (CASP). For example, the solution of the 3D structure of a protein is announced but the data withheld for a couple of months to give computational groups time to submit a prediction which is then evaluated by an independent team. A concluding conferences crowns the best prediction groups. In recent years, systems biology and sequence interpretation produce sufficient data to make similar challenges possible. Continue reading

The London 2012 ECE in retrospect

The Shard. London has changed quite a bit since my last visit and I didn’t really pay that much attention to the Olympics, I must admit. Both became clear to me when I left the train at London Bridge Station. There it stood in front of me: The Shard. London’s new high-rise building, the tallest skyscraper in the European Union. And I had no idea that it even existed. On a smaller scale, there were also a few surprises for me at the ECE in the world of epilepsy genetics. Continue reading

The rise of the Channelopathist

Gotham City. Strange sightings have recently occurred in EuroEPINOMICS land. Scientific evildoers and exomic villains tremble in fear. The field respectfully speaks of a masked superhero roaming the floors of major genome centers. His superpowers appear beyond description. Witness the rise of the Channelopathist – and a slightly unusual blog post on epilepsy genetics. Continue reading