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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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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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Searching for a technology-driven acute rheumatic fever test: the START study protocolThe absence of a diagnostic test for acute rheumatic fever (ARF) is a major impediment in managing this serious childhood condition. ARF is an autoimmune condition triggered by infection with group A Streptococcus.
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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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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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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
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Functional genomics in cancer immunotherapy: Computational approaches for biomarker and drug discoveryThis review explores computational strategies to yield biological insight into the processes involved in the immunotherapeutic response
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Data Descriptor: Monitoring transcription initiation activities in rat and dogThe promoter landscape of several non-human model organisms is far from complete
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Transcriptional dynamics during human adipogenesis and its link to adipose morphology and distributionOur results suggest a complex but highly coordinated regulation of adipogenesis
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Technical Advance: Transcription factor, promoter, and enhancer utilization in human myeloid cellsThe generation of myeloid cells from their progenitors is regulated at the level of transcription by combinatorial control of key transcription factors...