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Research
An expanded phenotype centric benchmark of variant prioritisation toolsIdentifying the causal variant for diagnosis of genetic diseases is challenging when using next-generation sequencing approaches and variant prioritization tools can assist in this task. These tools provide in silico predictions of variant pathogenicity, however they are agnostic to the disease under study. We previously performed a disease-specific benchmark of 24 such tools to assess how they perform in different disease contexts.
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A national harmonised data collection network for neurodevelopmental disorders: A transdiagnostic assessment protocol for neurodevelopment, mental health, functioning and well-beingChildren with neurodevelopmental disorders share common phenotypes, support needs and comorbidities. Such overlap suggests the value of transdiagnostic assessment pathways that contribute to knowledge about research and clinical needs of these children and their families.
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Targeting cross-presentation as a route to improve the efficiency of peptide-based cancer vaccinesCross-presenting dendritic cells (DC) offer an attractive target for vaccination due to their unique ability to process exogenous antigens for presentation on MHC class I molecules. Recent reports have established that these DC express unique surface receptors and play a critical role in the initiation of anti-tumor immunity, opening the way for the development of vaccination strategies specifically targeting these cells.
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The effects of JASPER intervention for children with autism spectrum disorder: A systematic reviewNaturalistic developmental behavioural interventions are promising approaches for young children with, or suspected of having, autism spectrum disorder. Joint attention, symbolic play, engagement and regulation intervention (JASPER) is a well-researched naturalistic developmental behavioural intervention but, to date, no reviews have specifically evaluated its effects.
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Trajectories of childhood immune development and respiratory health relevant to asthma and allergyOur findings demonstrate the utility of unsupervised analysis in elucidating heterogeneity in asthma pathogenesis
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Upper Airway Cell Transcriptomics Identify a Major New Immunological Phenotype with Strong Clinical Correlates in Young Children with Acute WheezingAsthma exacerbations in children can be divided into IRF7hi versus IRF7lo phenotypes with associated differences in clinical phenotypes
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Machine Learning-Based DNA Methylation Score for Fetal Exposure to Maternal SmokingFetal exposure to maternal smoking during pregnancy is associated with the development of noncommunicable diseases in the offspring. Maternal smoking may induce such long-term effects through persistent changes in the DNA methylome, which therefore hold the potential to be used as a biomarker of this early life exposure. With declining costs for measuring DNA methylation, we aimed to develop a DNA methylation score that can be used on adolescent DNA methylation data and thereby generate a score for in utero cigarette smoke exposure.
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A Qualitative Exploration of Electronic Image Sharing Among Young People: Navigating the Issues of Conformity, Trust, Intention, and ReputationThis research sought to explore the main factors affecting young people's image-sharing behaviors, particularly in the context of peer relationships and norms
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The non-specific and sex-differential effects of vaccinesThe textbook view of vaccination is that it functions to induce immune memory of the specific pathogen components of the vaccine, leading to a quantitatively and qualitatively better response if the host is exposed to infection with the same pathogen
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Vaccination strategies to enhance immunity in neonatesProtection may be further improved by integrating these approaches, namely vaccinating the neonate under the cover of vertically transferred maternal immunity