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Centre for Advanced Cancer Genomics (CACG)Current technologies to understand which genes are turned on or off only work on large amounts of biological samples. As a consequence all measurements we receive represent averages across multiple cell types present in the sample. The situation is comparable to studying the contents of a bowl of fr
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Coupling of response biomarkers between tumor and peripheral blood in patients undergoing chemoimmunotherapyPlatinum-based chemotherapy in combination with anti-PD-L1 antibodies has shown promising results in mesothelioma. However, the immunological mechanisms underlying its efficacy are not well understood and there are no predictive biomarkers to guide treatment decisions.
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Precision HealthListed are The Kids Research Institute Australia research teams involved in our Genetics and Rare Diseases Program. This program sits under the Chronic and Severe Diseases research theme.
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Time-course RNAseq data of murine AB1 mesothelioma and Renca renal cancer following immune checkpoint therapyTime-critical transcriptional events in the immune microenvironment are important for response to immune checkpoint blockade (ICB), yet these events are difficult to characterise and remain incompletely understood. Here, we present whole tumor RNA sequencing data in the context of treatment with ICB in murine models of AB1 mesothelioma and Renca renal cell cancer.
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Functional validation of variants of unknown significance using CRISPR gene editing and transcriptomics: A Kleefstra syndrome case studyThere are an estimated > 400 million people living with a rare disease globally, with genetic variants the cause of approximately 80% of cases. Next Generation Sequencing (NGS) rapidly identifies genetic variants however they are often of unknown significance.
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Common data elements to standardize genomics studies in cerebral palsyTo define clinical common data elements (CDEs) and a mandatory minimum data set (MDS) for genomic studies of cerebral palsy (CP). Method: Candidate data elements were collated following a review of the literature and existing CDEs.
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Assessing the unified airway hypothesis in children via transcriptional profiling of the airway epitheliumUpper and lower airways are conserved in their transcriptional composition, and variations associated with disease are present in both nasal and tracheal epithelium
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Tumor Infiltrating Effector Memory Antigen-Specific CD8(+) T Cells Predict Response to Immune Checkpoint TherapyImmune checkpoint therapy (ICT) results in durable responses in individuals with some cancers, but not all patients respond to treatment. ICT improves CD8+ cytotoxic T lymphocyte (CTL) function, but changes in tumor antigen-specific CTLs post-ICT that correlate with successful responses have not been well characterized. Here, we studied murine tumor models with dichotomous responses to ICT.
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Transcriptional landscape of Mycobacterium tuberculosis infection in macrophagesA comprehensive in depth gene expression/regulation profile in Mycobacterium tuberculosis-infected macrophages
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Reference genotype and exome data from an Australian Aboriginal population for health-based researchThis data set provides a useful reference point for genomic studies on Aboriginal Australians