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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
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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
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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...
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Study Protocol for a Stepped-Wedge Cluster (Nested) Randomized Controlled Trial of Antenatal Colostrum Expression (ACE) Instruction in First-Time Mothers: The ACE StudyAlthough many mothers initiate breastfeeding, supplementation with human-milk substitutes (formula) during the birth hospitalization is common and has been associated with early breastfeeding cessation. Colostrum hand expressed in the last few weeks before birth, known as antenatal colostrum expression (ACE), can be used instead of human-milk substitutes. However, evidence is lacking on the efficacy of ACE on breastfeeding outcomes and in non-diabetic mothers.
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An evaluation of GPT models for phenotype concept recognitionClinical deep phenotyping and phenotype annotation play a critical role in both the diagnosis of patients with rare disorders as well as in building computationally-tractable knowledge in the rare disorders field.
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Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed HackathonTimo Lassmann BSc (Hons) MSc PhD Feilman Fellow; Head, Precision Health Research and Head, Computational Biology timo.lassmann@thekids.org.au
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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...
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Linking FANTOM5 CAGE peaks to annotations with CAGEscanHere, we present the production and quality control of CAGEscan libraries from 56 FANTOM5 RNA sources
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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...