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        25-36 of 1140 results for 'projects''

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        A flexible computational pipeline for research analyses of unsolved clinical exome cases

        Exome sequencing has enabled molecular diagnoses for rare disease patients but often with initial diagnostic rates of ~25-30%. Here we develop a robust computational pipeline to rank variants for reassessment of unsolved rare disease patients. A comprehensive web-based patient report is generated in which all deleterious variants can be filtered by gene, variant characteristics, OMIM disease and Phenolyzer scores, and all are annotated with an ACMG classification and links to ClinVar. ...

        Research

        Ear Explorers: A ‘real-life research project’ enabling children to view inside their own ears using smartphone video-otoscopy

        Chris Brennan-Jones C PhD Head, Ear Health chris.brennan-jones@telethonkids.org.au Senior Research Fellow, Ear Health Associate Professor Chris Brennan-Jones is an audiologist and clinician scientist who leads the Ear Health team at Telethon Kids ...

        Research

        Haemolysis Detection in MicroRNA-Seq from Clinical Plasma Samples

        The abundance of cell-free microRNA (miRNA) has been measured in blood plasma and proposed as a source of novel, minimally invasive biomarkers for several diseases. Despite improvements in quantification methods, there is no consensus regarding how haemolysis affects plasma miRNA content. ...

        Research

        A peer support intervention for first-time mothers: Feasibility and preliminary efficacy of the mummy buddy program

        The transition to motherhood, although joyous, can be highly stressful, and the availability of professional postpartum support for mothers is often limited. Peer volunteer support programs may offer a viable and cost-effective method to provide community-based support for new mothers. The aim of this study is to determine the feasibility of a peer volunteer support program-The Mummy Buddy Program-in which experienced volunteer mothers are paired with, and trained to offer social support to, first-time mothers. ...

        Research

        Where are the alcohol advertising hotspots near schools?

        Physically locating liquor stores near schools can strongly influence the chances of youth accessing and consuming alcohol, and may also increase children's exposure to alcohol advertising. Investigating the association between the presence of a liquor store near a school and the prevalence of outdoor alcohol advertising is crucial from a policy perspective, as it can inform future regulations on the placement of liquor stores and outdoor advertising near educational institutions.  ...

        Research

        Evidence for associations between the purinergic receptor P2X(7) (P2RX7) and toxoplasmosis

        Congenital Toxoplasma gondii infection can result in intracranial calcification, hydrocephalus and retinochoroiditis. Acquired infection is commonly associated ...

        Research

        Food Outlets Dietary Risk (FODR) assessment tool: study protocol for assessing the public health nutrition risks of community food environments

        Availability and accessibility of nutritious foods can vary according to the food outlets present within a neighbourhood or community. There is increasing evidence that community food environments influence food choice. ...

        Research

        Development of a nutrition-focussed food outlet classification system

        Gina Heather Trapp Croll GT HC BHSc(Hons1A), RPHNutr, PhD BHSc ARC DECRA Fellow & Head of Food and Nutrition Research Program Coordinator 0410 589 374 08 6319 1469 Gina.Trapp@telethonkids.org.au Heather.McKee@telethonkids.org.au ARC DECRA Fellow & ...

        Research

        Common and Rare Genetic Variants That Could Contribute to Severe Otitis Media in an Australian Aboriginal Population

        Our goal was to identify genetic risk factors for severe otitis media (OM) in Aboriginal Australians. ...

        Research

        Placental Transcription Profiling in 6–23 Weeks’ Gestation Reveals Differential Transcript Usage in Early Development

        The human placenta is a rapidly developing transient organ that is key to pregnancy success. Early development of the conceptus occurs in a low oxygen environment before oxygenated maternal blood begins to flow into the placenta at ~10–12 weeks’ gestation. This process is likely to substantially affect overall placental gene expression. Transcript variability underlying gene expression has yet to be profiled. ...

        Research

        What Heterogeneities in Individual-level Mobility Are Lost During Aggregation? Leveraging GPS Logger Data to Understand Fine-scale and Aggregated Patterns of Mobility

        Human movement drives spatial transmission patterns of infectious diseases. Population-level mobility patterns are often quantified using aggregated data sets, such as census migration surveys or mobile phone data. These data are often unable to quantify individual-level travel patterns and lack the information needed to discern how mobility varies by demographic groups. Individual-level datasets can capture additional, more precise, aspects of mobility that may impact disease risk or transmission patterns and determine how mobility differs across cohorts; however, these data are rare, particularly in locations such as sub-Saharan Africa. ...

        Research

        Nutritional quality of children’s menus in restaurants: does cuisine type matter?

        It is unknown whether the nutritional quality of children's menus vary depending on the cuisine type. This study aimed to investigate differences in the nutritional quality of children's menus by cuisine type in restaurants located in Perth, Western Australia. ...

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