Papers of the week – Comorbidity clusters, Epigenomic annotation & exome-based TDT

Finally, I have finished my PhD. Bild1After focussing on writing and defending my thesis for the last few months, I am now ready to focus on research again. Because I am understandably in a very happy mood, this week’s selection of papers also reflects the fun aspects of science beside neurogenetics and genomics.

BINGO! Do you want to enjoy conference presentations in a slightly different way? Karczewski shows us how conference BINGO is played. A fun idea to critically examine popular buzzwords, thereby helping you improve the presentations at your next conference.

Your thesis in one sentence, understandable to everyone. You can imagine that this can result in weird and funny statements. Angela Frankel started a website where graduate students can submit their thesis title in a way that everyone should understand it. Meanwhile the page got popular for translated thesis titles like “If you cut down trees, there are less leaves”. I recommend visiting the website during your coffee breaks. By the way, my titel would have been: “Lot’s of different rare DNA changes can be involved in common forms of epilepsy”.

Comorbidity Clusters. In the January issue of Pediatrics, Doshi-Velez and colleagues present a PheWAS (phenotype-wide association study) on medical records of several thousand patients with autism spectrum disorder. Not surprisingly, the first comorbidity cluster they identified was characterized by seizures. Noteably, this cluster was also enriched for intellectual disability. Similar to recently identified genetic findings, PheWAS points to a shared genetic etiology of these disorders.

Infectious diseases, the human genome and evolution? Are you interested in the bigger picture in genome science? If yes, join the webinar on ‘Evolution of Modern Humans – From Bones to Genomes’ on January the 23rd.

Epigenomic annotation guided WGS analysis. From my point of view, the study by Weedon and collaborators is the most interesting paper this week. The authors show clearly that ENCODE tracks can be used to analyze whole genome sequencing data successfully. A huge variety of annotations are now available and we as genome scientists should think about incorporating these annotations in our filtering strategies.

Transmission Disequilibrium Test extension. In a new paper in the American Journal of Human Genetics, He and colleagues present an extended version of the TDT test applicable for whole exome trio data and rare variant analysis. This approach allows controlling for population structure and enables another level of trio analysis beside de novo mutation identification.

Progress in the Genetics of Polygenic Brain Disorders. In case you are new in the field or you want an overall update about the genetics of neurodevelopmental disorders, than read this review recently published in Neuron. From my point of view, this review is well written and of interest to everyone interested in complex neurogenetic diseases.

This week’s selection of papers shows a clear trend: data analysis and interpretation in genome science is advancing. Let’s hope that epilepsy genomics will follow this trend. ‘Low hanging fruits’ might in fact be hidden in regulatory elements of the genome. The potential to identify them might be particularly promising in large epilepsy families.

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