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Research
Linking FANTOM5 CAGE peaks to annotations with CAGEscanHere, we present the production and quality control of CAGEscan libraries from 56 FANTOM5 RNA sources
Research
Systematic chemical and molecular profiling of MLL-rearranged infant acute lymphoblastic leukemia reveals efficacy of romidepsinIdentified romidepsin as a promising therapeutic for mixed lineage leukemia (MLL)-rearranged infant acute lymphoblastic leukemia
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Application of Gene Expression Trajectories Initiated from ErbB Receptor Activation Highlights the Dynamics of Divergent Promoter UsageThis study helps us understand how cancer cells are regulated by key genes and their corresponding networks to alter their fate in response to specific...
Research
Transcribed enhancers lead waves of coordinated transcription in transitioning mammalian cellsOur data support a highly generalizable model in which enhancer transcription is the earliest event in successive waves of transcriptional change during...
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Gateways to the FANTOM5 promoter level mammalian expression atlasThe FANTOM5 project investigates transcription initiation activities in more than 1,000 human and mouse primary cells, cell lines and tissues using CAGE.
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TagDust2: A generic method to extract reads from sequencing data.Arguably the most basic step in the analysis of next generation sequencing data (NGS) involves the extraction of mappable reads from the raw reads...
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CRISPR-Cas9-generated PTCHD1 2489T>G stem cells recapitulate patient phenotype when undergoing neural inductionAn estimated 3.5%-5.9% of the global population live with rare diseases, and approximately 80% of these diseases have a genetic cause. Rare genetic diseases are difficult to diagnose, with some affected individuals experiencing diagnostic delays of 5-30 years. Next-generation sequencing has improved clinical diagnostic rates to 33%-48%. In a majority of cases, novel variants potentially causing the disease are discovered.
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What’s in a name?In WA, 60,000 kids live with a rare disease, and of those about half do not have a diagnosis. At The Kids, researchers are leading the charge in developing a method to identify genetic variations, so that kids like Charlotte can get answers.
Research
Undiagnosed Diseases Program (UDP) and Bringing the benefits of precision medicine to children in Western AustraliaWe have started a project utilising whole genome sequencing of undiagnosed children living in WA to provide a definitive diagnosis. A major challenge here is that the role and functions of the inter-genic regions of our genome (the remaining 98%) are relatively poorly understood.
Research
An unbiased exploration of the human regulatory landscapeWe are made up of hundreds of different cell types carrying out a diverse range of functions essential for organism survival. All the information required to specify the morphology, function and response to stimuli of these cells is encoded in identical copies of the genome. The process of gene regu