Matthews a,d on behalf of the VERITAS Collaboration

We performed whole-genome sequencing (WGS) of 208 genomes from 53 families affected by simplex autism. For the majority of these families, no copy-number variant (CNV) or candidate de novo gene-disruptive single-nucleotide variant (SNV) had been detected by microarray or whole-exome sequencing (WES). We integrated multiple CNV and SNV analyses and extensive experimental validation to identify additional candidate mutations in eight families. We report that compared to control individuals, probands showed a significant (p = 0.03) enrichment of de novo and private disruptive mutations within fetal CNS DNase I hypersensitive sites (i.e., putative regulatory regions). This effect was only observed within 50 kb of genes that have been previously associated with autism risk, including genes where dosage sensitivity has already been established by recurrent disruptive de novo protein-coding mutations (ARID1B, SCN2A, NR3C2, PRKCA, and DSCAM). In addition, we provide evidence of gene-disruptive CNVs (in DISC1, WNT7A, RBFOX1, and MBD5), as well as smaller de novo CNVs and exon-specific SNVs missed by exome sequencing in neurodevelopmental genes (e.g., CANX, SAE1, and PIK3CA). Our results suggest that the detection of smaller, often multiple CNVs affecting putative regulatory elements might help explain additional risk of simplex autism.

LS I +61°303 is one of around ten gamma-ray binaries detected so far which has a spectral energy distribution dominated by MeV-GeV photons. It is located at a distance of 2 kpc and consists of a compact object (black hole or neutron star) in an eccentric orbit around a 10-15Be star, with an orbital period of 26.496 days. The binary orbit modulates the emission ranging from radio to TeV energies. A second, longer, modulation period of 1667 days (the super-orbital period) has also been detected from radio to TeV observations. The VERITAS imaging atmospheric Cherenkov telescope array has been observing LS I +61°303 since 2006, and has accumulated a dataset that fully covers the entire orbit. Increased coverage of the source in the very-high-energy band is currently underway to provide more results on the modulation pattern, super-orbital period, and orbit-to-orbit variability at the highest energies. The spectral measurements at the highest energies will reveal more information about gamma-ray production/absorption mechanisms, the nature of the compact object, and the particle acceleration mechanism. Using >150 hrs of VERITAS data, we present a detailed study of the spectral energy distribution and periodic behavior of this rare gamma-ray source type at very-high energy.

No abstract

The first atmospheric Cherenkov telescope of VERITAS (the Very Energetic Radiation Imaging Telescope Array System) has been in operation since February 2005. We present here a technical description of the instrument and a summary of its performance. The calibration methods are described, along with the results of Monte Carlo simulations of the telescope and comparisons between real and simulated data. The analysis of TeV γ-ray observations of the Crab Nebula, including the reconstructed energy spectrum, is shown to give results consistent with earlier measurements. The telescope is operating as expected and has met or exceeded all design specifications.