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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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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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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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Epigenome-wide meta-analysis of blood DNA methylation in newborns and children identifies numerous loci related to gestational ageWe identified numerous CpGs differentially methylated in relation to gestational age at birth that appear to reflect fetal developmental processes across tissues
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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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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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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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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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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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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...