Seizure prediction : ready for a new era

Acknowledgements: The authors acknowledge colleagues in the international seizure prediction group for valuable discussions. L.K. acknowledges funding support from the National Health and Medical Research Council (APP1130468) and the James S. McDonnell Foundation (220020419) and acknowledges the contribution of Dean R. Freestone at the University of Melbourne, Australia, to the creation of Fig. 3.Peer reviewe

Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes

Copy number variants (CNVs) are major contributors to genomic imbalance disorders. Phenotyping of 137 unrelated deletion and reciprocal duplication carriers of the distal 16p11.2 220 kb BP2-BP3 interval showed that these rearrangements are associated with autism spectrum disorders and mirror phenotypes of obesity/underweight and macrocephaly/microcephaly. Such phenotypes were previously associated with rearrangements of the non-overlapping proximal 16p11.2 600 kb BP4-BP5 interval. These two CNV-prone regions at 16p11.2 are reciprocally engaged in complex chromatin looping, as successfully confirmed by 4C-seq, fluorescence in situ hybridization and Hi-C, as well as coordinated expression and regulation of encompassed genes. We observed that genes differentially expressed in 16p11.2 BP4-BP5 CNV carriers are concomitantly modified in their chromatin interactions, suggesting that disruption of chromatin interplays could participate in the observed phenotypes. We also identified cis- and trans-acting chromatin contacts to other genomic regions previously associated with analogous phenotypes. For example, we uncovered that individuals with reciprocal rearrangements of the trans-contacted 2p15 locus similarly display mirror phenotypes on head circumference and weight. Our results indicate that chromosomal contacts’ maps could uncover functionally and clinically related genes.Molecular Psychiatry advance online publication, 31 May 2016; doi:10.1038/mp.2016.84

Dynamics of a vertical cavity quantum cascade phonon laser structure

Driven primarily by scientific curiosity, but also by the potential applications of intense sources of coherent sound, researchers have targeted the phonon laser (saser) since the invention of the optical laser over 50 years ago. Here we fabricate a vertical cavity structure designed to operate as a saser oscillator device at a frequency of 325 GHz. It is based on a semiconductor superlattice gain medium, inside a multimode cavity between two acoustic Bragg reflectors. We measure the acoustic output of the device as a function of time after applying electrical pumping. The emission builds in intensity reaching a steady state on a timescale of order 0.1 μs. We show that the results are consistent with a model of the dynamics of a saser cavity exactly analogous to the models used for describing laser dynamics. We also obtain estimates for the gain coefficient, steady-state acoustic power output and efficiency of the device

Unsupervised Feature Learning for Outlier Detection with Stacked Convolutional Autoencoders, Siamese Networks and Wasserstein Autoencoders: Application to Epilepsy Detection

International audienc