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CRISPR single base editing, neuronal disease modelling and functional genomics for genetic variant analysis: pipeline validation using Kleefstra syndrome EHMT1 haploinsufficiencyOver 400 million people worldwide are living with a rare disease. Next Generation Sequencing identifies potential disease causative genetic variants. However, many are identified as variants of uncertain significance and require functional laboratory validation to determine pathogenicity, and this creates major diagnostic delays.
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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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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.
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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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The rare and undiagnosed diseases diagnostic service – application of massively parallel sequencing in a state-wide clinical serviceThe Rare and Undiagnosed Diseases Diagnostic Service refers to a genomic diagnostic platform operating within the Genetic Services of Western Australia
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Functional annotation of the vlinc class of non-coding RNAs using systems biology approachWe show that vlincRNAs genes likely function in cis to activate nearby genes
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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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Metagenomic Characterisation of the Gut Microbiome and Effect of Complementary Feeding on Bifidobacterium spp. in Australian InfantsComplementary feeding induces dramatic ecological shifts in the infant gut microbiota toward more diverse compositions and functional metabolic capacities, with potential implications for immune and metabolic health. The aim of this study was to examine whether the age at which solid foods are introduced differentially affects the microbiota in predominantly breastfed infants compared with predominantly formula-fed infants.
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C1 CAGE detects transcription start sites and enhancer activity at single-cell resolution.We introduce C1 CAGE, a method for the detection of transcript 5'-ends with an original sample multiplexing strategy in the C1TM microfluidic system
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A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next FrontiersThere is a critical need for the field to develop and implement strategies to understand the mechanisms underlying all rare diseases and translate these to clinical care