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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.
Research
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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Systematic chemical and molecular profiling of MLL-rearranged infant acute lymphoblastic leukemia reveals efficacy of romidepsinPresent a valuable resource for drug discovery and have identified ROM as a promising therapeutic for MLL-rearranged iALL
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DeepCAGE Transcriptomics Reveal an Important Role of the Transcription Factor MAFB in the Lymphatic EndotheliumVEGFR-3 signaling plays a central role in lymphatic biology, both in the development of the lymphatic network during embryogenesis as well as in...
Research
Functional characterization of the MED12 p.Arg1138Trp variant in females: implications for neural development and disease mechanismSeven female individuals with multiple congenital anomalies, developmental delay and/or intellectual disability have been found to have a genetic variant of uncertain significance in the mediator complex subunit 12 gene. The functional consequence of this genetic variant in disease is undetermined, and insight into disease mechanism is required.
Research
Use of privacy-preserving record linkage to examine the dispensing of pharmaceutical benefits scheme medicines to pregnant women in Western AustraliaMedications are commonly used during pregnancy to manage pre-existing conditions and conditions that arise during pregnancy. However, not all medications are safe to use in pregnancy. This study utilized privacy-preserving record linkage (PPRL) to examine medications dispensed under the national Pharmaceutical Benefits Scheme (PBS) to pregnant women in Western Australia (WA) overall and by medication safety category.
News & Events
McCusker Charitable Foundation grant in support of the Undiagnosed Diseases ProgramThe Kids Research Institute Australia congratulates Prof Gareth Baynam and Dr Timo Lassmann on their grant over three years from the McCusker Charitable Foundation.
Research
Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal AustraliansTraits associated with CVD, CRD and T2D in Aboriginal Australians provide novel insight into function of Arylsulphatase A Pseudodeficiency variants
Research
On-the-fly selection of cell-specific enhancers, genes, miRNAs and proteins across the human body using SlideBaseSlideBase, a web tool which offers a new way of selecting genes, promoters, enhancers and microRNAs that are preferentially expressed/used in a specified set of cells/tissues