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Research

Human Phenotype Ontology based phenotype concept recognition (CR) underpins a faster and more effective mechanism to create patient phenotype profiles or to document novel phenotype-centred knowledge statements. While the increasing adoption of large language models (LLMs) for natural language understanding has led to several LLM-based solutions, we argue that their intrinsic resource-intensive nature is not suitable for realistic management of the phenotype CR lifecycle.

Research

Early childhood is foundational for optimal and inclusive lifelong learning, health and well-being. Young children with disabilities face substantial risks of sub-optimal early childhood development, requiring targeted support to ensure equitable access to lifelong learning opportunities, especially in low- and middle-income countries. 

Research

Children and adolescents with Intellectual Disability experience a worse Quality-of-Life (QoL) relative to typically developing peers. Thus, QoL evaluation is important for identifying support needs and improving rehabilitation effectiveness. Nevertheless, currently in Italy there are not tools with this scope. This study aims to translate and cross-culturally adapt the Quality-of-Life Inventory-Disability into Italian.

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In recent decades, field and semi-field studies of malaria transmission have gathered geographic-specific information about mosquito ecology, behaviour and their sensitivity to interventions. Mathematical models of malaria transmission can incorporate such data to infer the likely impact of vector control interventions and hence guide malaria control strategies in various geographies.

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Dietary patterns characterised by high intakes of vegetables may lower the risk of pre-eclampsia and premature birth in the general population. The effect of dietary patterns in women with type 1 diabetes, who have an increased risk of complications in pregnancy, is not known. 

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In Western Australia (WA), children aged 24 months living regionally or remotely (non-urban) have suboptimal vaccine uptake. As there has not yet been a systematic approach to understanding the facilitators and barriers to childhood vaccination in regional and remote WA, this study aimed to understand the views of key immunisation stakeholders regarding barriers and solutions.

Research

Child poverty remains a major global concern and a child's experience of deprivation is heavily shaped by where they live and the stability of their local neighbourhood. This study examines frequencies and patterns of residential mobility in children and young people at a population level using novel geospatial techniques to assess how often their physical environment changes and to identify geographical variations in social mobility.

Research

Due to an advanced understanding of cancer biology and the rapid development of genomic technologies, cancer has shifted from 200 diseases based on pathology (i.e., what a tumor looks like under the microscope) to thousands of diseases based on molecular tumor profiles (i.e., what a tumor looks like when its altered genome is interrogated). Most cancers arise from alterations to the genome, including changes in the number or structure of chromosomes and variations in a single building block of the genetic code.

Research

Chronic obstructive pulmonary disease (COPD) results from gene-environment interactions over the lifetime. These interactions are captured by epigenetic changes, such as DNA methylation.  

Research

Fertility rates are key indicators of population health and demographic change, influencing economic development, healthcare planning, and social policies. Understanding subnational variation in fertility rate is important for effective geographical targeting and policy prioritization. This study aimed to identify geographic variation, trends, and determinants of fertility rates in Ethiopia over the past two decades.