33,536 research outputs found

    Study on the concordance between different SNP‐genotyping platforms in sheep

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    .Different SNP genotyping technologies are commonly used in multiple studies to perform QTL detection, genotype imputation, and genomic predictions. Therefore, genotyping errors cannot be ignored, as they can reduce the accuracy of different procedures applied in genomic selection, such as genomic imputation, genomic predictions, and false-positive results in genome-wide association studies. Currently, whole-genome resequencing (WGR) also offers the potential for variant calling analysis and high-throughput genotyping. WGR might overshadow array-based genotyping technologies due to the larger amount and precision of the genomic information provided; however, its comparatively higher price per individual still limits its use in larger populations. Thus, the objective of this work was to evaluate the accuracy of the two most popular SNP-chip technologies, namely, Affymetrix and Illumina, for high-throughput genotyping in sheep considering high-coverage WGR datasets as references. Analyses were performed using two reference sheep genome assemblies, the popular Oar_v3.1 reference genome and the latest available version Oar_rambouillet_v1.0. Our results demonstrate that the genotypes from both platforms are suggested to have high concordance rates with the genotypes determined from reference WGR datasets (96.59% and 99.51% for Affymetrix and Illumina technologies, respectively). The concordance results provided in the current study can pinpoint low reproducible markers across multiple platforms used for sheep genotyping data. Comparing results using two reference genome assemblies also informs how genome assembly quality can influence genotype concordance rates among different genotyping platforms. Moreover, we describe an efficient pipeline to test the reliability of markers included in sheep SNP-chip panels against WGR datasets available on public databases. This pipeline may be helpful for discarding low-reliability markers before exploiting genomic information for gene mapping analyses or genomic predictionS

    Educació postural: avaluació dels coneixements de la salut de l'esquena en activitats de la vida diària en estudiants d'Educació Secundària

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    Objectiu: Dissenyar i validar un qüestionari sobre coneixements de la salut i la cura de l’esquena en activitats de la vida diària en joves També analizar diferents models de puntuació de les respostes. Metodologia: Es va seguir un mètode general de prospectiva (Delphi), amb el consens d’un grup de sis experts. Estudi de consistencia interna i fiabilitat en una mostra de 89 xics i 80 xiques. Amb les dades obteses aplicació de cinc models de puntuació basats en donar un pes diferent a les respostes. Consistència interna del qüestionari calculada amb l'Alfa de Cronbach amb cadascú dels models. Estudi de la fiabilitat amb l'anàlisi de mesures repetides test-retest i l’estudi de l’error de mesura amb la representació gràfica dels valors descrita per Bland i Altman. Es calcularen les desviacions estàndard de les diferències, la prova t per a una mostra amb les diferències, els coeficients de correlació intraclasse i els seus intervals de confiança del 95%, l’error estàndard de mesura, el canvi mínim detectable i el coeficient de reproductibilitat. Efecte sòl/sostre calculat amb els percentatges de resposta més alts i més baixos en les puntuacions del primer passe. Per a l'anàlisi de la capacitat discriminatòria de les puntuacions obtingudes es van utilitzar les mitjanes totals del primer passe, es va reagrupar la variable en quatre grups per quartils i es va aplicar una ANOVA d'un factor entres el quartil 1 y el quartil 4. Resultats: Anàlisi de la validesa tots els valors obtesos sobre la consistència interna són iguals o majors a .6 Als diferents models, l'Alfa de Cronbach va oscil·lar entre .6 i .7. En la representació de les puntuacions mitjanes de totes dues passades i el càlcul del pendent de la seua funció lineal hi ha una relació positiva entre les mesures. El valor del pendent, en tots els models al voltant de .7 excepte en el model C que va ser de .56. L’índex de determinació va mostrar un nivell de coherència de les mesures reals amb les teòriques moderat Coeficient de correlació entre les puntuacions i el coeficient de correlació intraclasse igual o major a .75. Error de mesura i límits d'acord de les puntuacions calculats a partir de la desviació típica de la diferència de les mitjanes van indicar una probabilitat molt baixa de ser diferents entre ells. L'efecte sòl/sostre va indicar que aquest efecte no es va produir L'anàlisi de regressió de les mitjanes i diferències de les puntuacions totals de tots els models va indicar un augment significatiu de les diferències en les puntuacions a mesura que el valor mitjà d'aquestes va augmentar. Les diferències entre tots els models van ser significatives. Conclusions: Es presenta un qüestionari per a mesurar els coneixements sobre la postura corporal i la cura de l'esquena en activitats de la vida diària en adolescents validat. Es determina que les mateixes dades, es poden analitzar utilitzant diferents models, proporcionant cadascun d#aquests informació diferent

    The temporality of rhetoric: the spatialization of time in modern criticism

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    Every conception of criticism conceals a notion of time which informs the manner in which the critic conceives of history, representation and criticism itself. This thesis reveals the philosophies of time inherent in certain key modern critical concepts: allegory, irony and the sublime. Each concept opens a breach in time, a disruption of chronology. In each case this gap or aporia is emphatically closed, elided or denied. Taking the philosophy of time elaborated by Giorgio Agamben as an introductory proposition, my argument turns in Chapter One to the allegorical temporality which Walter Benjamin sees as the time of photography. The second chapter examines the aesthetics of the sublime as melancholic or mournful untimeliness. In Chapter Three, Paul de Man's conception of irony provides an exemplary instance of the denial of this troubling temporal predicament. In opposition to the foreclosure of the disturbing temporalities of criticism, history and representation, the thesis proposes a fundamental rethinking of the philosophy of time as it relates to these categories of reflection. In a reading of an inaugural meditation on the nature of time, and in examining certain key contemporary philosophical and critical texts, I argue for a critical attendance to that which eludes those modes of thought that attempt to map time as a recognizable and essentially spatial field. The Confessions of Augustine provide, in the fourth chapter, a model for thinking through the problems set up earlier: Augustine affords us, precisely, a means of conceiving of the gap or the interim. In the final chapter, this concept is developed with reference to the criticism of Arnold and Eliot, the fiction of Virginia Woolf and the philosophy of cinema derived from Deleuze and Lyotard. In conclusion, the philosophical implications of the thesis are placed in relation to a conception of the untimeliness of death

    Incentivising research data sharing : a scoping review

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    Background: Numerous mechanisms exist to incentivise researchers to share their data. This scoping review aims to identify and summarise evidence of the efficacy of different interventions to promote open data practices and provide an overview of current research. Methods: This scoping review is based on data identified from Web of Science and LISTA, limited from 2016 to 2021. A total of 1128 papers were screened, with 38 items being included. Items were selected if they focused on designing or evaluating an intervention or presenting an initiative to incentivise sharing. Items comprised a mixture of research papers, opinion pieces and descriptive articles. Results: Seven major themes in the literature were identified: publisher/journal data sharing policies, metrics, software solutions, research data sharing agreements in general, open science ‘badges’, funder mandates, and initiatives. Conclusions: A number of key messages for data sharing include: the need to build on existing cultures and practices, meeting people where they are and tailoring interventions to support them; the importance of publicising and explaining the policy/service widely; the need to have disciplinary data champions to model good practice and drive cultural change; the requirement to resource interventions properly; and the imperative to provide robust technical infrastructure and protocols, such as labelling of data sets, use of DOIs, data standards and use of data repositories

    Impact of progressive familial intrahepatic cholestasis on caregivers: caregiver-reported outcomes from the multinational PICTURE study

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    From Springer Nature via Jisc Publications RouterHistory: received 2021-11-02, accepted 2022-01-16, registration 2022-01-18, pub-electronic 2022-02-02, online 2022-02-02, collection 2022-12Publication status: PublishedFunder: Albireo Pharma, Inc.Abstract: Background: Progressive familial intrahepatic cholestasis (PFIC) is a spectrum of rare genetic diseases characterized by inadequate bile secretion that requires substantial ongoing care, though little research is published in this area. We report health-related quality of life (HRQoL) and work productivity outcomes from the retrospective, cross-sectional PICTURE study investigating the burden of PFIC on caregivers. Information from caregivers of patients with PFIC 1 or 2 in Germany, the United Kingdom and the United States from September 2020 to March 2021 was included. Results: The PICTURE study sample comprised HRQoL responses from 22 PFIC caregivers. Patients were on average 8.2 years old; most caregivers were 30–49 years old (68%) and mothers (77%). Median CarerQoL-7D score was 67.7/100; mean CarerQoL-VAS score for general happiness was 5.7/10 (SD 2.1). Most caregivers reported fulfilment in their caregiving responsibilities, but problems with mental and physical health, finances, and relationships. When stratified by patient’s PFIC type, mean CarerQoL-7D and CarerQoL-VAS scores suggested worse HRQoL outcomes with PFIC2 versus PFIC1 (59.4 vs. 71.2, and 5.3 vs. 6.5, respectively). Additionally, more caregivers reported impact on sleep in the PFIC2 versus PFIC1 subgroup (93% vs. 75%). When stratified by history of PFIC-related surgeries, mean CarerQoL-7D and VAS scores were higher among those whose children had no specified surgeries (67.7 vs. 59.0/100 and 6.2 vs. 5.2/10, respectively). Nearly all caregivers reported an impact of caregiving responsibilities on sleeping (86%) and on personal relationships (82%). No caregivers reported having formal care support. Most caregivers were employed (73%); a third reported mean productivity loss of 12.9 days (SD 19.3) over the last 3 months, and a mean of 2.8 (SD 9.5) missed years of employment during their career. A higher number of workdays were missed by PFIC 2 caregivers compared to PFIC1 over last 3 months (16 days vs. 3 days). Conclusions: The PICTURE study has demonstrated the prevalent, comprehensive, and meaningful burden that caring for an individual with PFIC has on caregivers. Despite fulfilment from caregiving, the breadth and depth of these responsibilities reduced caregiver reported HRQoL including mental and physical health, productivity, career prospects, sleep, relationships and finances

    Machine learning based adaptive soft sensor for flash point inference in a refinery realtime process

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    In industrial control processes, certain characteristics are sometimes difficult to measure by a physical sensor due to technical and/or economic limitations. This fact is especially true in the petrochemical industry. Some of those quantities are especially crucial for operators and process safety. This is the case for the automotive diesel Flash Point Temperature (FT). Traditional methods for FT estimation are based on the study of the empirical inference between flammability properties and the denoted target magnitude. The necessary measures are taken indirectly by samples from the process and analyzing them in the laboratory, this process implies time (can take hours from collection to flash temperature measurement) and thus make it very difficult for real-time monitorization, which in fact results in security and economical losses. This study defines a procedure based on Machine Learning modules that demonstrate the power of real-time monitorization over real data from an important international refinery. As input, easily measured values provided in real-time, such as temperature, pressure, and hydraulic flow are used and a benchmark of different regressive algorithms for FT estimation is presented. The study highlights the importance of sequencing preprocessing techniques for the correct inference of values. The implementation of adaptive learning strategies achieves considerable economic benefits in the productization of this soft sensor. The validity of the method is tested in the reality of a refinery. In addition, real-world industrial data sets tend to be unstable and volatile, and the data is often affected by noise, outliers, irrelevant or unnecessary features, and missing data. This contribution demonstrates with the inclusion of a new concept, called an adaptive soft sensor, the importance of the dynamic adaptation of the conformed schemes based on Machine Learning through their combination with feature selection, dimensional reduction, and signal processing techniques. The economic benefits of applying this soft sensor in the refinery's production plant and presented as potential semi-annual savings.This work has received funding support from the SPRI-Basque Gov- ernment through the ELKARTEK program (OILTWIN project, ref. KK- 2020/00052)

    Quality assurance of segmental strain values provided by commercial 2-D speckle tracking echocardiography using in silico models: a report from the EACVI-ASE Strain Standardization Task Force

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    The aim of this study was to determine the accuracy and reproducibility of vendor-specific regional strain values by echocardiography using in silico data. Synthetic 2-D ultrasound gray-scale images of the left ventricle (LV) were generated with knowledge of the longitudinal segmental strain values from the underlying electromechanical LV model. Four of five models mimicked transmural infarctions with systolic segmental stretching in different vascular areas. Cine loops in the three apical views were synthetically generated at four noise levels. All in silico images were repeatedly analyzed by a single investigator and some by another investigator. The absolute errors varied significantly between vendors from 3.3 ± 3.1% to 11.2 ± 5.9%. The area under the curve for the identification of segmental stretching ranged from 0.80 (confidence interval: 0.77-0.83) to 0.96 (0.95-0.98). The levels of agreement for intra-investigator variability varied between -3.0% to 2.9% and -5.2% to 4.8%, and for inter-investigator variability, between -3.6% to 3.5% and -14.5% to 8.5%. Segmental strain analysis allows the identification of areas with segmental stretching with good accuracy. However, single segmental peak-strain values are not accurate and should be interpreted with caution. Nevertheless, our results indicate the usefulness of semiquantitative strain assessment for the detection of regional dysfunction.We thank the Northern Norway Regional Health Authority for supporting the first author with a grant (ID 6884/ SFP1078-12
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