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Integration of genetics and miRNA-target gene network identified disease biology implicated in tissue specificityOur result highlighted that miRNA-target gene network contributes to human disease genetics in a cell type-specific manner
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Autism risk associated with parental age and with increasing difference in age between the parentsIncreases in ASD was not only limited to advancing paternal or maternal age alone but also to differences parental age including younger or older similarly age
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CAGEd-oPOSSUM: motif enrichment analysis from CAGE-derived TSSsCAGEd-oPOSSUM can identify transcription factors that act as key regulators of genes involved in specific mammalian cell and tissue types
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An unbiased exploration of the human regulatory landscapeWe are made up of hundreds of different cell types carrying out a diverse range of functions essential for organism survival. All the information required to specify the morphology, function and response to stimuli of these cells is encoded in identical copies of the genome. The process of gene regu
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Undiagnosed Diseases Program (UDP) and Bringing the benefits of precision medicine to children in Western AustraliaWe have started a project utilising whole genome sequencing of undiagnosed children living in WA to provide a definitive diagnosis. A major challenge here is that the role and functions of the inter-genic regions of our genome (the remaining 98%) are relatively poorly understood.
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Common and Rare Genetic Variants That Could Contribute to Severe Otitis Media in an Australian Aboriginal PopulationOur goal was to identify genetic risk factors for severe otitis media (OM) in Aboriginal Australians.
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Refining nosology by modelling variation among facial phenotypes: The RASopathiesIn clinical genetics, establishing an accurate nosology requires analysis of variations in both aetiology and the resulting phenotypes. At the phenotypic level, recognising typical facial gestalts has long supported clinical and molecular diagnosis; however, the objective analysis of facial phenotypic variation remains underdeveloped.
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Systematic assessment of tissue dissociation and storage biases in single-cell and single-nucleus RNA-seq workflowsSystematic comparison of recovered cell types and their transcriptional profiles across the workflows has highlighted protocol-specific biase
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Associations between interpregnancy interval and preterm birth by previous preterm birth status in four high-income countries: a cohort studyTo investigate the effect of interpregnancy interval (IPI) on preterm birth (PTB) according to whether the previous birth was preterm or term.
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The role and therapeutic implications of T cells in cancer of the lungThis review examines the role of T cells in lung cancer, discussing the direction and clinical significance of current and future immunotherapeutic strategies