Papers of the week (w49)

Dennis' paper of the weekChristmas parties, grant deadlines, paper revising and preparation for the upcoming Young Researchers in Epileptology Meeting in Sde Boker, Israel next week. As always, the first weeks in December are intense but the right time to think about your research and plan the next year.

Plan and act as efficient as possible and don’t reinvent the wheel. PLoS Computational Biology features the paper series “ten simple rules” guiding scientists in all kinds of research related topics. Among many other papers of the series I , as a young scientist,  like “Ten Simple Rules for Getting Published “, “Ten Simple Rules for Selecting a Postdoctoral Position“, “Ten Simple Rules for Doing Your Best Research, According to Hamming” and for working in genome science “Ten Simple Rules for Reproducible Computational Research“. Here you find the full list of more than thirty papers of the series.

Christmas is family time. Have you ever asked yourself how much do you have in common with your mother, grandmother or second cousin? Or more specifically “How many genomic blocks I share with my second cousin”? By simulating and subsequent visualization of inheritance pattern, Graham Coop will help you to answer this question.

The majority of epilepsies are complex genetic. On the long run researchers will integrate more and more variables in their computational and molecular genetic analysis. Like complex diseases, several human traits are complex. In the newest edition of Nature Reviews Genetics Civelek and Lusis review Systems genetics approaches to understand complex traits.

GABA? Hearing this word, every neuro-scientist gets excited. GABA receptor subunits and their interaction partners are prime candidate genes for variant analysis and alterations have been shown to cause epilepsy. The GABAB receptor is no exception, making the presentation of the crystal structure of the subunits GBR1 and GBR2 a highlight of this week. The new knowledge on how the activation mechanism for GABAB receptor works, might help to understand pathogenic variants effecting the receptor.

How do CNVs and other variations in the human genome affect gene regulation? Haraksingh & Snyder review this question in the latest edition of J. Mol. Biol.  Next week in Israel my talk will focus on these models and will present several examples affecting epilepsy patients. From my point of view, the era of CNV research has just begun.