DGLinker: flexible knowledge-graph prediction of disease-gene associations

As a result of the advent of high-throughput technologies, there has been rapid progress in our understanding of the genetics underlying biological processes. However, despite such advances, the genetic landscape of human diseases has only marginally been disclosed. Exploiting the present availability of large amounts of biological and phenotypic data, we can use our current understanding of disease genetics to train machine learning models to predict novel genetic factors associated with the disease. To this end, we developed DGLinker, a webserver for the prediction of novel candidate genes for human diseases given a set of known disease genes. DGLinker has a user-friendly interface that allows non-expert users to exploit biomedical information from a wide range of biological and phenotypic databases, and/or to upload their own data, to generate a knowledge-graph and use machine learning to predict new disease-associated genes. The webserver includes tools to explore and interpret the results and generates publication-ready figures. DGLinker is available at https://dglinker.rosalind.kcl.ac.uk. The webserver is free and open to all users without the need for registration

Commissioning and operation of the Cherenkov detector for proton Flux Measurement of the UA9 Experiment

The UA9 Experiment at CERN-SPS investigates channeling processes in bent silicon crystals with the aim to manipulate hadron beams. Monitoring and characterization of channeled beams in the high energy accelerators environment ideally requires in-vacuum and radiation hard detectors. For this purpose the Cherenkov detector for proton Flux Measurement (CpFM) was designed and developed. It is based on thin fused silica bars in the beam pipe vacuum which intercept charged particles and generate Cherenkov light. The first version of the CpFM is installed since 2015 in the crystal-assisted collimation setup of the UA9 experiment. In this paper the procedures to make the detector operational and fully integrated in the UA9 setup are described. The most important standard operations of the detector are presented. They have been used to commission and characterize the detector, providing moreover the measurement of the integrated channeled beam profile and several functionality tests as the determination of the crystal bending angle. The calibration has been performed with Lead (Pb) and Xenon (Xe) beams and the results are applied to the flux measurement discussed here in detail.Comment: 25 pages, 14 figure

Results on Multiple Coulomb Scattering from 12 and 20 GeV electrons on Carbon targets

Multiple scattering effects of 12 and 20 GeV electrons on 8 and 20 mm thickness carbon targets have been studied with high-resolution silicon microstrip detectors of the UA9 apparatus at the H8 line at CERN. Comparison of the scattering angle between data and GEANT4 simulation shows excellent agreement in the core of the distributions leaving some residual disagreement in the tails.Comment: 14 pages, 16 figures. Updated to match published versio

A 1 m3^3 Gas Time Projection Chamber with Optical Readout for Directional Dark Matter Searches: the CYGNO Experiment

The aim of the CYGNO project is the construction and operation of a 1~m$^3$ gas TPC for directional dark matter searches and coherent neutrino scattering measurements, as a prototype toward the 100-1000~m$^3$ (0.15-1.5 tons) CYGNUS network of underground experiments. In such a TPC, electrons produced by dark-matter- or neutrino-induced nuclear recoils will drift toward and will be multiplied by a three-layer GEM structure, and the light produced in the avalanche processes will be readout by a sCMOS camera, providing a 2D image of the event with a resolution of a few hundred micrometers. Photomultipliers will also provide a simultaneous fast readout of the time profile of the light production, giving information about the third coordinate and hence allowing a 3D reconstruction of the event, from which the direction of the nuclear recoil and consequently the direction of the incoming particle can be inferred. Such a detailed reconstruction of the event topology will also allow a pure and efficient signal to background discrimination. These two features are the key to reach and overcome the solar neutrino background that will ultimately limit non-directional dark matter searches.Comment: 5 page, 7 figures, contribution to the Conference Records of 2018 IEEE NSS/MI

Mapping the CMB Sky: The BOOMERANG experiment

We describe the BOOMERanG experiment, a stratospheric balloon telescope intended to measure the Cosmic Microwave Background anisotropy at angular scales between a few degrees and ten arcminutes. The experiment has been optimized for a long duration (7 to 14 days) flight circumnavigating Antarctica at the end of 1998. A test flight was performed on Aug.30, 1997 in Texas. The level of performance achieved in the test flight was satisfactory and compatible with the requirements for the long duration flight.Comment: 11 pages, 6 figure

Crab Waist Scheme Luminosity and Background Diagnostic at DAFNE

TUPTPF029International audienceTest of the crab waist scheme, undergoing at the Frascati DAFNE accelerator complex, needs a fast and accurate measurement of the luminosity, as well as a full characterization of the background conditions. Three different monitors, a Bhabha calorimeter, a Bhabha GEM tracker and a gamma bremsstrahlung proportional counter have been designed, tested and installed on the accelerator at the end of January 2008. Results from beam-test measurements, comparison with the Monte Carlo simulation and preliminary data collected during the SIDDHARTA run are presented

The BOOMERANG North America Instrument: a balloon-borne bolometric radiometer optimized for measurements of cosmic background radiation anisotropies from 0.3 to 4 degrees

We describe the BOOMERANG North America (BNA) instrument, a balloon-borne bolometric radiometer designed to map the Cosmic Microwave Background (CMB) radiation with 0.3 deg resolution over a significant portion of the sky. This receiver employs new technologies in bolometers, readout electronics, millimeter-wave optics and filters, cryogenics, scan and attitude reconstruction. All these subsystems are described in detail in this paper. The system has been fully calibrated in flight using a variety of techniques which are described and compared. It has been able to obtain a measurement of the first peak in the CMB angular power spectrum in a single balloon flight, few hours long, and was a prototype of the BOOMERANG Long Duration Balloon (BLDB) experiment.Comment: 40 pages, 22 figures, submitted to Ap

Approccio endoscopico endonasale alla giunzione craniocervicale: l’importanza di preservare o ricostruire l’arco anteriore dell’atlante

Riportiamo la nostra esperienza con l’approccio endoscopico endonasale (EEA) in una serie consecutiva di 10 pazienti affetti da lesioni anteriori della giunzione cranio-cervicale. L’obiettivo dello studio è analizzare l’outcome di questi pazienti focalizzando l’attenzione sulla possibilità di preservare o ricostruire l’arco anteriore di C1, quale importante elemento di stabilità della giunzione cranio-cervicale. Dal gennaio 2009 al dicembre 2013, 10 pazienti con patologia della giunzione craniocervicale sono stati operati mediante approccio endoscopico endonasale. Le lesioni trattate includevano 4 casi di non riducibile compressione bulbo-midollare extradurale anteriore della giunzione (secondarie ad artrite reumatoide o anomalie della giunzione), 4 casi di fratture inveterate di C1 o del dente dell’epistrofeo e 2 casi lesioni tumorali. La valutazione clinica pre- e postoperatoria è stata effettuata mediante la scala di Ranawat per i casi di artrite reumatoide e di Nurick per gli altri. Il follow-up radiologico comprendeva invece RM, TC e RX con prove morfo-dinamiche per eventuale preesistente severa instabilità. Dopo l’approccio EEA puro alla giunzione craniocervicale, nessun paziente ha presentato un peggioramento neurologico, né si sono verificate significative complicanze. Al follow-up medio di 31 mesi (range 14-73 mesi), un miglioramento di almeno un livello della classificazione Ranawat o Nurick si è osservato in 6 pazienti mentre gli altri 4 sono rimasti stabili. Il follow-up neuroradiologico ha documentato in tutti i casi un’adeguata decompressione bulbo-midollare, mentre nei casi di frattura di C1 o C2 una regolare fusione ossea delle rime di frattura. Nessun paziente ha presentato segni di instabilità e non è stata pertanto necessaria alcuna procedura di stabilizzazione e fusione posteriore. L’approccio endoscopico endonasale garantisce un’adeguata esposizione delle lesioni antero-mediali della giunzione craniocervicale. Nella nostra serie di pazienti tale procedura ha permesso di preservare o ricostruire l’arco anteriore di C1, evitando quindi una sintesi posteriore e la relativa perdita di movimento rotazionale C0-C2 e l’instabilità subassiale