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Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls

Purpose: Stringent variant interpretation guidelines can lead to high rates of variants of uncertain significance (VUS) for genetically heterogeneous disease like long QT syndrome (LQTS) and Brugada syndrome (BrS). Quantitative and disease-specific customization of American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines can address this false neg

Popigai impact ejecta layer and extraterrestrial spinels recovered in a new Italian location—The Monte Vaccaro section (Marche Apennines, Italy)

The Popigai (100 km in diameter) and the Chesapeake Bay (40–85 km diameter) impact structures formed within ~10–20 k.y. in the late Eocene during a 2 m.y. period with enhanced flux of 3He-rich interplanetary dust to Earth. Ejecta from the Siberian Popigai impact structure have been found in late Eocene marine sediments at numerous deep-sea drilling sites around the globe and also in a few marine s

Distribution of chrome-spinel grains across the 3He anomaly of the Tortonian Stage at the Monte dei Corvi section, Italy

The present-day ocean-climate system configuration took shape during the Miocene Epoch. Toward the end of the epoch, in the late Tortonian at ca. 8.5 Ma, there was an exceptional event: collisional disruption of an >150-km-diameter asteroid, which created the Veritas family of asteroids in the asteroid belt. This event increased the flux of interplanetary dust particles rich in 3He to Earth and pr

Terrestrial Cr-spinels in the Maiolica limestone : Where are they from?

In total, 33 and 65 chrome-spinel (Cr-spinel) grains in the >63 and 32–63 µm size fractions, respectively, were recovered from 12 beds in two stratigraphically separated groups along the 240-m-thick Monte Acuto section of the Maiolica limestone in central Italy, spanning from the Berriasian to the early Hauterivian. The chemistry of these detrital spinels suggests they may represent windblown ophi

How did the Syrian uprising become militarised?

Many researchers treat violent and non-violent resistance as two strategies that groups choose between based on rational calculation of their perceived success. However, Syrian activists did not experience the turn from non-violent to violent resistance as a rational choice, or even a choice at ali. Based on interviews with activists and citizen journalists, this article shows how emotional mechan

Ovarian cancer. Biomarkers, surgical outcome and survival.

Ovarian cancer is the eighth most common female cancer worldwide and the most lethal of the gynaecologic malignancies. Around 700 women are diagnosed in Sweden per year. Due to vague symptoms most of the patients are diagnosed with late-stage epithelial ovarian cancer (EOC) and prognosis is poor, with a five-year survival of 49%. However, for early-stage EOC the prognosis is excellent. Biomarkers

Ultrafast Optical Generation of Coherent Bright and Dark Surface Phonon Polaritons in Nanowires

The subwavelength confinement and enhanced electric field created by plasmons allow precise sensing and enhanced light–matter interaction. However, the high frequency and short lifetime of plasmons limit the full potential of this technology. It is crucial to find substitutes and to study their dynamics. Here, we propose an experimental approach allowing the time-domain study of surface phonon pol

AI in the EU: Ethical Guidelines as a Governance Tool

This chapter examines ethical guidelines as a tool for the governance of artificial intelligence (AI). Analysing the European development towards a trustworthy AI, with a focus on the High-Level Expert Group on AI appointed by the European Commission, the chapter highlights the interaction between guidelines and law in light of technological advancements. It discusses why contemporary AI has led t

Measurements of top-quark pair spin correlations in the eμ channel at √s=13 TeV using pp collisions in the ATLAS detector

A measurement of observables sensitive to spin correlations in tt¯ production is presented, using 36.1 fb - 1 of pp collision data at s=13 TeV recorded with the ATLAS detector at the Large Hadron Collider. Differential cross-sections are measured in events with exactly one electron and one muon with opposite-sign electric charge as a function of the azimuthal opening angle and the absolute differe

Search for direct production of electroweakinos in final states with one lepton, missing transverse momentum and a Higgs boson decaying into two b-jets in pp collisions at √s=13 TeV with the ATLAS detector

The results of a search for electroweakino pair production pp→χ~1±χ~20 in which the chargino (χ~1±) decays into a W boson and the lightest neutralino (χ~10), while the heavier neutralino (χ~20) decays into the Standard Model 125 GeV Higgs boson and a second χ~10 are presented. The signal selection requires a pair of b-tagged jets consistent with those from a Higgs boson decay, and either an electr