De novo. Three months ago, I performed a trio exome de novo analysis in a patient-parent trio. From my iPad, in a hotel room in Paris. When I got home a few days later, I was excited to tell my students that the analysis worked. They looked at me slightly confused: “What’s the big deal? We had the analysis complete already a week or so ago.” Last year at this time, I was proud that our lab had established a fully functional de novo analysis pipeline. Suddenly, it’s not a big deal anymore. What happened? Let me tell you about Varbank. Continue reading
Tag Archives: Varbank
Why you need to know what EGI stands for
Epilepsy Genetics Initiative – A Signature Program of CURE from CUREepilepsy on Vimeo.
The Epilepsy Genetics Initiative. If you had told me last week that the next era of epilepsy genetics would be announced by an animated cartoon, I wouldn’t have believed you. Earlier this week, the Epilepsy Genetics Initiative (EGI) was launched, an emerging large exome repository that will help us connect dots in epilepsy genetics research by centralizing genetic data for research. These are the three things that I have learned from the EGI launch. Continue reading
A look back at the Leuven NGS bioinformatics meeting
Program completed. On Sunday, we finished our EuroEPINOMICS next generation sequencing (NGS) bioinformatics meeting. After working through the command line, running scripts, and staring at black screens with white cursors, we completed our four day course by looking at the more user friendly, web-based tools that the NGS world has to offer, including Galaxy, Varbank, and Ingenuity. I think it was the general consensus among the participants that this was the bioinformatics meeting that we needed in order to understand the data that we generate and deal with on day-to-day basis. These were my favorite sound bites of our meeting. Continue reading