2,455 research outputs found

    CapsID: a web-based tool for developing parsimonious sets of CAPS molecular markers for genotyping

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    BACKGROUND: Genotyping may be carried out by a number of different methods including direct sequencing and polymorphism analysis. For a number of reasons, PCR-based polymorphism analysis may be desirable, owing to the fact that only small amounts of genetic material are required, and that the costs are low. One popular and cheap method for detecting polymorphisms is by using cleaved amplified polymorphic sequence, or CAPS, molecular markers. These are also known as PCR-RFLP markers. RESULTS: We have developed a program, called CapsID, that identifies snip-SNPs (single nucleotide polymorphisms that alter restriction endonuclease cut sites) within a set or sets of reference sequences, designs PCR primers around these, and then suggests the most parsimonious combination of markers for genotyping any individual who is not a member of the reference set. The output page includes biologist-friendly features, such as images of virtual gels to assist in genotyping efforts. CapsID is freely available at . CONCLUSION: CapsID is a tool that can rapidly provide minimal sets of CAPS markers for molecular identification purposes for any biologist working in genetics, community genetics, plant and animal breeding, forensics and other fields

    The association between socioeconomic disadvantage and children’s working memory abilities: A systematic review and meta-analysis

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    Background and objective: Working memory is an essential cognitive skill for storing and processing limited amounts of information over short time periods. Researchers disagree about the extent to which socioeconomic position affects children’s working memory, yet no study has systematically synthesised the literature regarding this topic. The current review therefore aimed to investigate the relationship between socioeconomic position and working memory in children, regarding both the magnitude and the variability of the association. Methods: The review protocol was registered on PROSPERO and the PRISMA checklist was followed. Embase, Psycinfo and MEDLINE were comprehensively searched via Ovid from database inception until 3rd June 2021. Studies were screened by two reviewers at all stages. Studies were eligible if they included typically developing children aged 0–18 years old, with a quantitative association reported between any indicator of socioeconomic position and children’s working memory task performance. Studies were synthesised using two data-synthesis methods: random effects meta-analyses and a Harvest plot. Key findings: The systematic review included 64 eligible studies with 37,737 individual children (aged 2 months to 18 years). Meta-analyses of 36 of these studies indicated that socioeconomic disadvantage was associated with significantly lower scores working memory measures; a finding that held across different working memory tasks, including those that predominantly tap into storage (d = 0.45; 95% CI 0.27 to 0.62) as well as those that require processing of information (d = 0.52; 0.31 to 0.72). A Harvest plot of 28 studies ineligible for meta-analyses further confirmed these findings. Finally, meta-regression analyses revealed that the association between socioeconomic position and working memory was not moderated by task modality, risk of bias, socioeconomic indicator, mean age in years, or the type of effect size. Conclusion: This is the first systematic review to investigate the association between socioeconomic position and working memory in children. Socioeconomic disadvantage was associated with lower working memory ability in children, and that this association was similar across different working memory tasks. Given the strong association between working memory, learning, and academic attainment, there is a clear need to share these findings with practitioners working with children, and investigate ways to support children with difficulties in working memory

    Simpson's Paradox, Lord's Paradox, and Suppression Effects are the same phenomenon – the reversal paradox

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    This article discusses three statistical paradoxes that pervade epidemiological research: Simpson's paradox, Lord's paradox, and suppression. These paradoxes have important implications for the interpretation of evidence from observational studies. This article uses hypothetical scenarios to illustrate how the three paradoxes are different manifestations of one phenomenon – the reversal paradox – depending on whether the outcome and explanatory variables are categorical, continuous or a combination of both; this renders the issues and remedies for any one to be similar for all three. Although the three statistical paradoxes occur in different types of variables, they share the same characteristic: the association between two variables can be reversed, diminished, or enhanced when another variable is statistically controlled for. Understanding the concepts and theory behind these paradoxes provides insights into some controversial or contradictory research findings. These paradoxes show that prior knowledge and underlying causal theory play an important role in the statistical modelling of epidemiological data, where incorrect use of statistical models might produce consistent, replicable, yet erroneous results

    The impact of CACNA1C gene, and its epistasis with ZNF804A, on white matter microstructure in health, schizophrenia and bipolar disorder

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    Genome-wide studies have identified allele A (adenine) of single nucleotide polymorphism (SNP) rs1006737 of the calcium-channel CACNA1C gene as a risk factor for both schizophrenia (SZ) and bipolar disorder (BD) as well as allele A for rs1344706 in the zinc-finger ZNF804A gene. These illnesses have also been associated with white matter abnormalities, reflected by reductions in fractional anisotropy (FA), measured using diffusion tensor imaging (DTI). We assessed the impact of the CACNA1C psychosis risk variant on FA in SZ, BD and health. 230 individuals (with existing ZNF804A rs1344706 genotype data) were genotyped for CACNA1C rs1006737 and underwent DTI. FA data was analysed with tract-based spatial statistics and threshold-free cluster enhancement significance correction (p < 0.05) to detect effects of CACNA1C genotype on FA, and its potential interaction with ZNF804A genotype and with diagnosis, on FA. There was no significant main effect of the CACNA1C genotype on FA, nor diagnosis by genotype(s) interactions. Nevertheless, when inspecting SZ in particular, risk allele carriers had significantly lower FA than the protective genotype individuals, in portions of the left middle occipital and parahippocampal gyri, right cerebelleum, left optic radiation and left inferior and superior temporal gyri. Our data suggests a minor involvement of CACNA1C rs1006737 in psychosis via conferring susceptibility to white matter microstructural abnormalities in SZ. Put in perspective, ZNF804A rs1344706, not only had a significant main effect, but its SZ-specific effects were two orders of magnitude more widespread than that of CACNA1C rs1006737

    Electric-field-induced coherent coupling of the exciton states in a single quantum dot

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    The signature of coherent coupling between two quantum states is an anticrossing in their energies as one is swept through the other. In single semiconductor quantum dots containing an electron-hole pair the eigenstates form a two-level system that can be used to demonstrate quantum effects in the solid state, but in all previous work these states were independent. Here we describe a technique to control the energetic splitting of these states using a vertical electric field, facilitating the observation of coherent coupling between them. Near the minimum splitting the eigenstates rotate in the plane of the sample, being orientated at 45{\deg} when the splitting is smallest. Using this system we show direct control over the exciton states in one quantum dot, leading to the generation of entangled photon pairs

    The Union of Hearts Depicted: Gladstone, Home Rule and United Ireland

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    First paragraph: William Ewart Gladstone detested political cartoons. They embodied caricature, the exaggeration of a particular feature into a deformity to excite ridicule or hatred. Cartoons, Gladstone once pointed out, had not existed in ancient Greece. There the ideal of human beauty was so deeply cherished that its distortion was not tolerated. Yet cartoons did the statesman powerful service during his long career. Their very frequency consolidated his image as a popular politician, bringing out qualities such as courage and tenacity that he was happy to have publicised. Nowhere, however, did they advance his cause more than in Ireland after the introduction of Home Rule. The nationalist journal United Ireland, as the illustrations in this paper will show, gave currency to striking depictions of Gladstone; and they vividly portrayed the union of hearts between England and Ireland that he preached so persistently in the late 1880s. The purpose of this article is to examine a sample of the cartoons, but first they need to be placed in their context

    AVATAR - Machine Learning Pipeline Evaluation Using Surrogate Model

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    © 2020, The Author(s). The evaluation of machine learning (ML) pipelines is essential during automatic ML pipeline composition and optimisation. The previous methods such as Bayesian-based and genetic-based optimisation, which are implemented in Auto-Weka, Auto-sklearn and TPOT, evaluate pipelines by executing them. Therefore, the pipeline composition and optimisation of these methods requires a tremendous amount of time that prevents them from exploring complex pipelines to find better predictive models. To further explore this research challenge, we have conducted experiments showing that many of the generated pipelines are invalid, and it is unnecessary to execute them to find out whether they are good pipelines. To address this issue, we propose a novel method to evaluate the validity of ML pipelines using a surrogate model (AVATAR). The AVATAR enables to accelerate automatic ML pipeline composition and optimisation by quickly ignoring invalid pipelines. Our experiments show that the AVATAR is more efficient in evaluating complex pipelines in comparison with the traditional evaluation approaches requiring their execution
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