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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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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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3D Face Reconstruction with Mobile Phone Cameras for Rare Disease DiagnosisComputer vision technology is advancing rare disease diagnosis to address unmet needs of the more than 300 million individuals affected globally; one in three rare diseases have a known facial phenotype. 3D face model reconstruction is a key driver of these advances.
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An expanded phenotype centric benchmark of variant prioritisation toolsIdentifying the causal variant for diagnosis of genetic diseases is challenging when using next-generation sequencing approaches and variant prioritization tools can assist in this task. These tools provide in silico predictions of variant pathogenicity, however they are agnostic to the disease under study. We previously performed a disease-specific benchmark of 24 such tools to assess how they perform in different disease contexts.
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Epidemiology of Hospital Admissions for Craniosynostosis in Australia: A Population-Based StudyTo describe trends, age, and sex-specific patterns of population hospital admissions with a diagnosis of craniosynostosis (CS) in Australia. Population data for hospital separations (in-patient) from public and private hospitals (July 1996-June 2018) were obtained from the publicly available Australian Institute of Health and Welfare (AIHW) National Hospital Morbidity Database.
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Temporally restricted activation of IFNβ signaling determines response to immune checkpoint therapyThe biological determinants of the response to immune checkpoint blockade (ICB) in cancer remain incompletely understood. Little is known about dynamic biological events that underpin therapeutic efficacy due to the inability to frequently sample tumours in patients.
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Tricho-hepatic-enteric syndrome (THES) without intractable diarrhoeaWe report an 8 year old girl who was diagnosed with THES by the Undiagnosed Disease Program-WA with compound heterozygous pathogenic variants in SKIV2L
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Discovery of Transcription Factors Novel to Mouse Cerebellar Granule Cell Development Through Laser-Capture MicrodissectionThis study provides an initial insight into the TFs of cerebellar granule cells that might be important for development
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An integrated expression atlas of miRNAs and their promoters in human and mouseWe provided a broad atlas of miRNA expression and promoters in primary mammalian cells, establishing a foundation for detailed analysis of miRNA.
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Mapping mammalian cell-type-specific transcriptional regulatory networks using KD-CAGE and ChIP-seq data in the TC-YIK cell line.Examining the overlap between genes perturbed in the KD-CAGE experiments and genes with a ChIP-seq peak within 50 kb of their promoter, we identified direct...