WOW – a multilayered reflection on collective movements

Through a collective writing five dance artists share their individual and common experiences of collective, weaving together an intricate body of text. A playful and sincere approach towards different collective settings, modes and textures, exploring the rich complexity of being many in one – what it can entail, unfold and generat

The road ahead in genetics and genomics

In celebration of the 20th anniversary of Nature Reviews Genetics, we asked 12 leading researchers to reflect on the key challenges and opportunities faced by the field of genetics and genomics. Keeping their particular research area in mind, they take stock of the current state of play and emphasize the work that remains to be done over the next few years so that, ultimately, the benefits of genetic and genomic research can be felt by everyone

The class of the locus of intermediate Jacobians of cubic threefolds

We study the locus of intermediate Jacobians of cubic threefolds within the moduli space of complex principally polarized abelian fivefolds, and its generalization to arbitrary genus - the locus of abelian varieties with a singular odd two-torsion point on the theta divisor. Assuming that this locus has expected codimension (which we show to be true for genus up to 5), we compute the class of this locus, and of is closure in the perfect cone toroidal compactification, in the Chow, homology, and the tautological ring. We work out the cases of genus up to 5 in detail, obtaining explicit expressions for the classes of the closures of the locus of products of an elliptic curve and a hyperelliptic genus 3 curve, in moduli of principally polarized abelian fourfolds, and of the locus of intermediate Jacobians in genus 5. In the course of our computation we also deal with various intersections of boundary divisors of a level toroidal compactification, which is of independent interest in understanding the cohomology and Chow rings of the moduli spaces.Comment: v2: new section 9 on the geometry of the boundary of the locus of intermediate Jacobians of cubic threefolds. Final version to appear in Invent. Mat

Progress in Monte Carlo design and optimization of the Cherenkov Telescope Array

The Cherenkov Telescope Array (CTA) will be an instrument covering a wide energy range in very-high-energy (VHE) gamma rays. CTA will include several types of telescopes, in order to optimize the performance over the whole energy range. Both large-scale Monte Carlo (MC) simulations of CTA super-sets (including many different possible CTA layouts as sub-sets) and smaller-scale simulations dedicated to individual aspects were carried out and are on-going. We summarize results of the prior round of large-scale simulations, show where the design has now evolved beyond the conservative assumptions of the prior round and present first results from the on-going new round of MC simulations.Comment: 4 pages, 5 figures. In Proceedings of the 33rd International Cosmic Ray Conference (ICRC2013), Rio de Janeiro (Brazil). All CTA contributions at arXiv:1307.223

Gitools: Analysis and Visualisation of Genomic Data Using Interactive Heat-Maps

Intuitive visualization of data and results is very important in genomics, especially when many conditions are to be analyzed and compared. Heat-maps have proven very useful for the representation of biological data. Here we present Gitools (http://www.gitools.org), an open-source tool to perform analyses and visualize data and results as interactive heat-maps. Gitools contains data import systems from several sources (i.e. IntOGen, Biomart, KEGG, Gene Ontology), which facilitate the integration of novel data with previous knowledge

NectarCAM : a camera for the medium size telescopes of the Cherenkov Telescope Array

NectarCAM is a camera proposed for the medium-sized telescopes of the Cherenkov Telescope Array (CTA) covering the central energy range of ~100 GeV to ~30 TeV. It has a modular design and is based on the NECTAr chip, at the heart of which is a GHz sampling Switched Capacitor Array and a 12-bit Analog to Digital converter. The camera will be equipped with 265 7-photomultiplier modules, covering a field of view of 8 degrees. Each module includes the photomultiplier bases, high voltage supply, pre-amplifier, trigger, readout and Ethernet transceiver. The recorded events last between a few nanoseconds and tens of nanoseconds. The camera trigger will be flexible so as to minimize the read-out dead-time of the NECTAr chips. NectarCAM is designed to sustain a data rate of more than 4 kHz with less than 5\% dead time. The camera concept, the design and tests of the various subcomponents and results of thermal and electrical prototypes are presented. The design includes the mechanical structure, cooling of the electronics, read-out, clock distribution, slow control, data-acquisition, triggering, monitoring and services.Comment: In Proceedings of the 34th International Cosmic Ray Conference (ICRC2015), The Hague, The Netherlands. All CTA contributions at arXiv:1508.0589

Multiple splice defects in ABCA1 cause low HDL-C in a family with Hypoalphalipoproteinemia and premature coronary disease

<p>Abstract</p> <p>Background</p> <p>Mutations at splice junctions causing exon skipping are uncommon compared to exonic mutations, and two intronic mutations causing an aberrant phenotype have rarely been reported. Despite the high number of functional <it>ABCA1 </it>mutations reported to date, splice variants have been reported infrequently. We screened DNA from a 41 year-old male with low HDL-C (12 mg/dL [0.31 mmol/L]) and a family history of premature coronary heart disease (CHD) using polymerase chain reaction single-strand conformation polymorphism (SSCP) analysis.</p> <p>Methods</p> <p>Family members with low levels of HDL-C (n = 6) were screened by SSCP for mutations in <it>ABCA1</it>. Samples with altered SSCP patterns were sequenced directly using either an ABI 3700 or ABI3730Xl DNA Analyzer. To screen for splicing defects, cDNA was isolated from the proband's RNA and was sequenced as above. A series of minigenes were constructed to determine the contribution of normal and defective alleles.</p> <p>Results</p> <p>Two novel splice variants in <it>ABCA1 </it>were identified. The first mutation was a single base pair change (T->C) in IVS 7, 6 bps downstream from the exon7/intron7 junction. Amplification of cDNA and allelic subcloning identified skipping of Exon 7 that results in the elimination of 59 amino acids from the first extracellular loop of the ABCA1 protein. The second mutation was a single base pair change (G->C) at IVS 31 -1, at the intron/exon junction of exon 32. This mutation causes skipping of exon 32, resulting in 8 novel amino acids followed by a stop codon and a predicted protein size of 1496 AA, compared to normal (2261 AA). Bioinformatic studies predicted an impact on splicing as confirmed by <it>in vitro </it>assays of constitutive splicing.</p> <p>Conclusion</p> <p>In addition to carnitine-acylcarnitine translocase (CACT) deficiency and Hermansky-Pudlak syndrome type 3, this represents only the third reported case in which 2 different splice mutations has resulted in an aberrant clinical phenotype.</p