22 research outputs found

    Comparative fruit quality parameters of ‘Ninfa’ apricot (Prunus armeniaca L.) grafted on two different rootstocks in a newly established organic orchard

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    The fruit quality parameters of Prunus armeniaca L. cv ‘Ninfa’ grafted on ‘Myrobalan 29C’ (Prunus cerasifera Ehrh.) and ‘Real Fino’ apricot seedling (Prunus armeniaca L.) were analysed in an experimental orchard under organic management. The study was performed between 2010 and 2012 in the province of Seville (SW Spain). Colour, fruit and stone weights, firmness, soluble solid concentration, and acidity were measured for fruit quality evaluation. Trunk cross-sectional area, main branches, and fruit yield were also determined. In general, ‘Myrobalan 29C’ rootstock produced fruit slightly larger in size and with a bigger weight. By contrast, apricots on ‘Myrobalan 29C’ had less firmness and a lower solid soluble concentration than on ‘Real Fino’. There was little difference in the colour, acidity, and stone dry weights. Trees on ‘Real Fino’ had larger areas of trunk and branches but no significant differences were obtained in relation to fruit yields

    Identification of common genetic risk variants for autism spectrum disorder

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    Autism spectrum disorder (ASD) is a highly heritable and heterogeneous group of neurodevelopmental phenotypes diagnosed in more than 1% of children. Common genetic variants contribute substantially to ASD susceptibility, but to date no individual variants have been robustly associated with ASD. With a marked sample-size increase from a unique Danish population resource, we report a genome-wide association meta-analysis of 18,381 individuals with ASD and 27,969 controls that identified five genome-wide-significant loci. Leveraging GWAS results from three phenotypes with significantly overlapping genetic architectures (schizophrenia, major depression, and educational attainment), we identified seven additional loci shared with other traits at equally strict significance levels. Dissecting the polygenic architecture, we found both quantitative and qualitative polygenic heterogeneity across ASD subtypes. These results highlight biological insights, particularly relating to neuronal function and corticogenesis, and establish that GWAS performed at scale will be much more productive in the near term in ASD.Peer reviewe

    Improving Genetic Prediction by Leveraging Genetic Correlations Among Human Diseases and Traits

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    Genomic prediction has the potential to contribute to precision medicine. However, to date, the utility of such predictors is limited due to low accuracy for most traits. Here theory and simulation study are used to demonstrate that widespread pleiotropy among phenotypes can be utilised to improve genomic risk prediction. We show how a genetic predictor can be created as a weighted index that combines published genome-wide association study (GWAS) summary statistics across many different traits. We apply this framework to predict risk of schizophrenia and bipolar disorder in the Psychiatric Genomics consortium data, finding substantial heterogeneity in prediction accuracy increases across cohorts. For six additional phenotypes in the UK Biobank data, we find increases in prediction accuracy ranging from 0.7 for height to 47 for type 2 diabetes, when using a multi-trait predictor that combines published summary statistics from multiple traits, as compared to a predictor based only on one trait. © 2018 The Author(s)

    Genome-wide association study identifies 30 Loci Associated with Bipolar Disorder

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    This paper is dedicated to the memory of Psychiatric Genomics Consortium (PGC) founding member and Bipolar disorder working group co-chair Pamela Sklar. We thank the participants who donated their time, experiences and DNA to this research, and to the clinical and scientific teams that worked with them. We are deeply indebted to the investigators who comprise the PGC. The views expressed are those of the authors and not necessarily those of any funding or regulatory body. Analyses were carried out on the NL Genetic Cluster Computer (http://www.geneticcluster.org ) hosted by SURFsara, and the Mount Sinai high performance computing cluster (http://hpc.mssm.edu).Bipolar disorder is a highly heritable psychiatric disorder. We performed a genome-wide association study including 20,352 cases and 31,358 controls of European descent, with follow-up analysis of 822 variants with P<1x10-4 in an additional 9,412 cases and 137,760 controls. Eight of the 19 variants that were genome-wide significant (GWS, p < 5x10-8) in the discovery GWAS were not GWS in the combined analysis, consistent with small effect sizes and limited power but also with genetic heterogeneity. In the combined analysis 30 loci were GWS including 20 novel loci. The significant loci contain genes encoding ion channels, neurotransmitter transporters and synaptic components. Pathway analysis revealed nine significantly enriched gene-sets including regulation of insulin secretion and endocannabinoid signaling. BDI is strongly genetically correlated with schizophrenia, driven by psychosis, whereas BDII is more strongly correlated with major depressive disorder. These findings address key clinical questions and provide potential new biological mechanisms for BD.This work was funded in part by the Brain and Behavior Research Foundation, Stanley Medical Research Institute, University of Michigan, Pritzker Neuropsychiatric Disorders Research Fund L.L.C., Marriot Foundation and the Mayo Clinic Center for Individualized Medicine, the NIMH Intramural Research Program; Canadian Institutes of Health Research; the UK Maudsley NHS Foundation Trust, NIHR, NRS, MRC, Wellcome Trust; European Research Council; German Ministry for Education and Research, German Research Foundation IZKF of MĂŒnster, Deutsche Forschungsgemeinschaft, ImmunoSensation, the Dr. Lisa-Oehler Foundation, University of Bonn; the Swiss National Science Foundation; French Foundation FondaMental and ANR; Spanish Ministerio de EconomĂ­a, CIBERSAM, Industria y Competitividad, European Regional Development Fund (ERDF), Generalitat de Catalunya, EU Horizon 2020 Research and Innovation Programme; BBMRI-NL; South-East Norway Regional Health Authority and Mrs. Throne-Holst; Swedish Research Council, Stockholm County Council, Söderström Foundation; Lundbeck Foundation, Aarhus University; Australia NHMRC, NSW Ministry of Health, Janette M O'Neil and Betty C Lynch

    Age at first birth in women is genetically associated with increased risk of schizophrenia

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    Prof. Paunio on PGC:n jÀsenPrevious studies have shown an increased risk for mental health problems in children born to both younger and older parents compared to children of average-aged parents. We previously used a novel design to reveal a latent mechanism of genetic association between schizophrenia and age at first birth in women (AFB). Here, we use independent data from the UK Biobank (N = 38,892) to replicate the finding of an association between predicted genetic risk of schizophrenia and AFB in women, and to estimate the genetic correlation between schizophrenia and AFB in women stratified into younger and older groups. We find evidence for an association between predicted genetic risk of schizophrenia and AFB in women (P-value = 1.12E-05), and we show genetic heterogeneity between younger and older AFB groups (P-value = 3.45E-03). The genetic correlation between schizophrenia and AFB in the younger AFB group is -0.16 (SE = 0.04) while that between schizophrenia and AFB in the older AFB group is 0.14 (SE = 0.08). Our results suggest that early, and perhaps also late, age at first birth in women is associated with increased genetic risk for schizophrenia in the UK Biobank sample. These findings contribute new insights into factors contributing to the complex bio-social risk architecture underpinning the association between parental age and offspring mental health.Peer reviewe

    Long-standing Small-scale Reconnection Processes at Saturn Revealed by Cassini

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    The internal mass source from the icy moon Enceladus in Saturn?s rapidly rotating magnetosphere drives electromagnetic dynamics in multiple spatial and temporal scales. The distribution and circulation of the internal plasma and associated energy are thus crucial in understanding Saturn?s magnetospheric environment. Magnetic reconnection is one of the key processes in driving plasma and energy transport in the magnetosphere, and also a fundamental plasma process in energizing charged particles. Recent works suggested that reconnection driven by Saturn?s rapid rotation might appear as a chain of microscale structures, named drizzle-like reconnection. The drizzle-like reconnection could exist not only in the nightside magnetodisk, but also in the dayside magnetodisk. Here, using in situ measurements from the Cassini spacecraft, we report multiple reconnection sites that were successively detected during a time interval longer than one rotation period. The time separation between two adjacently detected reconnection sites can be much less than one rotation period, implying that the reconnection processes are likely small-scale, or frequently repetitive. The spatial distribution of the identified long-standing multiple small reconnection site sequences shows no significant preference on local times. We propose that the small reconnection sites discussed in this Letter are rotationally driven and rotate with the magnetosphere. Since the reconnection process on Saturn can be long-durational, the rotational regime can cause these small-scale reconnection sites to spread to all local times, resulting in global release of energy and mass from the magnetosphere

    Psychometrics: From practice to theory and back

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    nonparametric IRT, NIRT, latent unidimensionality, latent multidimensionality, essential unidimensionality, monotone locally independent unidimensional IRT model, MLI1, item pair conditional covariances, DIMTEST, HCA/CCPROX, DETECT, CONCOV, Mokken scaling, generalized compensatory model, approximate simple structure, DIF, differential item functioning, differential bundle functioning DBF, valid subtest, multidimensional model for DIF, MMD, SIBTEST, MultiSIB, Mantel-Haenszel, PolySIB, CrossingSIB, skills diagnosis, formative assessment, Unified Model, reparameterized Bayes Unified Model, MCMC, evidence centered design, ECD, PSAT Score Report Plus,
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