Exploring the dark matter of the human genome – de novo mutations in regulatory elements

Unsolved cases. We are in an era of dramatic progress in understanding the genetic causes of neurologic disorders. In spite of this progress, many cases remain unsolved even after whole exome sequencing. One hypothesis for this missing heritability is that “non-coding” mutations outside the exome may explain at least some of these unsolved cases. A recent study looked at de novonon-coding variants in patients with neurodevelopmental disorders. The study sheds new light on this question and reminds us that, despite all the recent progress, there is much still to learn about vast portions of the genome. Continue reading

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. Continue reading