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Research
Adiposity associated DNA methylation signatures in adolescents are related to leptin and perinatal factorsEpigenetics links perinatal influences with later obesity. We identifed differentially methylated CpG (dmCpG) loci measured at 17 years associated with concurrent adiposity measures and examined whether these were associated with hsCRP, adipokines, and early life environmental factors. Genome-wide DNA methylation from 1192 Raine Study participants at 17 years, identified 29 dmCpGs associated with body mass index, 10 with waist circumference and 9 with subcutaneous fat thickness.
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Personalised analytics for rare disease diagnosticsHere we focus on the problem of prioritising variants with respect to the observed disease phenotype
Research
A phenotype centric benchmark of variant prioritisation toolsWe hypothesised that the performance of variant prioriisation tools may vary by disease phenotype.
Research
Promoter-level expression clustering identifies time development of transcriptional regulatory cascades initiated by ERBB receptors in breast cancer cellsThe analysis of CAGE (Cap Analysis of Gene Expression) time-courses has been applied to examine the dynamics of enhancer and promoter by sequentially...
Research
CAGE-defined promoter regions of the genes implicated in Rett SyndromeA comprehensive picture of the regulatory regions of the three genes involved in Rett Syndrome
People
Timo LassmannFeilman Fellow; Head, Precision Health Research and Head, Computational Biology
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...
Research
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...
Research
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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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.