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Research
Personalised analytics for rare disease diagnosticsHere we focus on the problem of prioritising variants with respect to the observed disease phenotype
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Sensitization to immune checkpoint blockade through activation of a STAT1/NK axis in the tumor microenvironmentOur results identify a pretreatment tumor microenvironment that predicts response to immune checkpoint blockade, which can be therapeutically attained
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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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Association of maternal prenatal smoking GFI1-locus and cardio-metabolic phenotypes in 18,212 adultsEpigenetic changes at the GFI1 were linked to smoking exposure in-utero/in-adulthood and robustly associated with cardio-metabolic risk factors
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Elucidating the interaction of CF airway epithelial cells and rhinovirus: Using the host-pathogen relationship to identify future therapeutic strategiesA better understanding of the innate immune responses by CF airway epithelial cells is needed to identify why viral infections are more severe in CF
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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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A phenotype centric benchmark of variant prioritisation toolsWe hypothesised that the performance of variant prioriisation tools may vary by disease phenotype.
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Integrative CAGE and DNA Methylation Profiling Identify Epigenetically Regulated Genes in NSCLCEpigenetically regulated genes have a great theranostic potential, especially in tumors with no apparent driver mutations.
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Transcriptome Analysis Uncovers a Growth-Promoting Activity of Orosomucoid-1 on HepatocytesOrm1 is induced in response to hepatic injury and executes liver regeneration by activating cell cycle progression in hepatocytes
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Systematic analysis of transcription start sites in avian developmentCAGE in combination with single-molecule sequencing technology allows mapping of TSSs and genome-wide capture of promoter activities state cell populations.