29 research outputs found

    Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction

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    The electrocardiographic PR interval reflects atrioventricular conduction, and is associated with conduction abnormalities, pacemaker implantation, atrial fibrillation (AF), and cardiovascular mortality. Here we report a multi-ancestry (N=293,051) genome-wide association meta-analysis for the PR interval, discovering 202 loci of which 141 have not previously been reported. Variants at identified loci increase the percentage of heritability explained, from 33.5% to 62.6%. We observe enrichment for cardiac muscle developmental/contractile and cytoskeletal genes, highlighting key regulation processes for atrioventricular conduction. Additionally, 8 loci not previously reported harbor genes underlying inherited arrhythmic syndromes and/or cardiomyopathies suggesting a role for these genes in cardiovascular pathology in the general population. We show that polygenic predisposition to PR interval duration is an endophenotype for cardiovascular disease, including distal conduction disease, AF, and atrioventricular pre-excitation. These findings advance our understanding of the polygenic basis of cardiac conduction, and the genetic relationship between PR interval duration and cardiovascular disease. On the electrocardiogram, the PR interval reflects conduction from the atria to ventricles and also serves as risk indicator of cardiovascular morbidity and mortality. Here, the authors perform genome-wide meta-analyses for PR interval in multiple ancestries and identify 141 previously unreported genetic loci.Peer reviewe

    A922 Sequential measurement of 1 hour creatinine clearance (1-CRCL) in critically ill patients at risk of acute kidney injury (AKI)

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    Digital Science Webinar: The State of Open Data

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    This webinar covers key findings from the State of Open Data report and global researcher survey, plus emerging policies for open research data in the US and Europe, and big data, knowledge production and the political economy of research. Speakers include Jon Treadway, Digital Science, Dr Sabina Leonelli, University of Exeter, Heather Joseph, Scholarly Publishing and Academic Resources Coalition, Aki MacFarlane, Research Analyst, Open Research, Wellcome Trust and Deni Auclair, CFO and Senior Analyst Delta Think

    Developing international open science collaborations: Funder reflections on the Open Science Prize - Fig 1

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    <p>The 6 Phase I finalists were: (a) “OpenAQ: A Global Community Building the First Open, Real-Time Air Quality Data Hub for the World,” providing real-time information on poor air quality by combining data from across the globe, (b) “OpenTrialsFDA: Making Unbiased Clinical Trial Data Accessible,” enabling better access to drug-approval packages submitted to and made available by the Food and Drug Administration, (c) “Open Neuroimaging Laboratory,” advancing brain research by enabling collaborative annotation, discovery, and analysis of brain-imaging data, d) “Fruit Fly Brain Observatory,” allowing researchers to better conduct modeling of mental and neurological diseases by connecting data related to the fly brain, (e) “MyGene2: Accelerating Gene Discovery via Radically Open Data Sharing,” facilitating the public sharing of health and genetic data through integration with publicly available information, and (f) “Real-Time Evolutionary Tracking for Pathogen Surveillance and Epidemiological Investigation,” permitting real-time analysis of emerging epidemics, such as Ebola, Middle East Respiratory Syndrome Conavirus, and Zika.</p
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