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Research

Mapping mammalian cell-type-specific transcriptional regulatory networks using KD-CAGE and ChIP-seq data in the TC-YIK cell line.

Examining the overlap between genes perturbed in the KD-CAGE experiments and genes with a ChIP-seq peak within 50 kb of their promoter, we identified direct...

Research

Tricho-hepatic-enteric syndrome (THES) without intractable diarrhoea

We report an 8 year old girl who was diagnosed with THES by the Undiagnosed Disease Program-WA with compound heterozygous pathogenic variants in SKIV2L

Research

Cellular and molecular changes to cortical neurons following low intensity repetitive magnetic stimulation at different frequencies

A systematic comparison of the cellular and molecular changes in neurons in vitro induced by low intensity magnetic stimulation at different frequencies.

Computational Biology

The aim of the Computational Biology team is to understand how individual bases in our genome predispose, alter and interact in normal and disease contexts.

People

Timo Lassmann

Feilman Fellow; Head, Precision Health Research and Head, Computational Biology

Research

Adiposity associated DNA methylation signatures in adolescents are related to leptin and perinatal factors

Epigenetics 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.

Research

Tumour draining lymph node-generated CD8 T cells play a role in controlling lung metastases after a primary tumour is removed but not when adjuvant immunotherapy is used

Surgical resection of cancer remains the frontline therapy for millions of patients annually, but post-operative recurrence is common, with a relapse rate of around 45% for non-small cell lung cancer. The tumour draining lymph nodes (dLN) are resected at the time of surgery for staging purposes, and this cannot be a null event for patient survival and future response to immune checkpoint blockade treatment. This project investigates cancer surgery, lymphadenectomy, onset of metastatic disease, and response to immunotherapy in a novel model that closely reflects the clinical setting. In a murine metastatic lung cancer model, primary subcutaneous tumours were resected with associated dLNs remaining intact, completely resected or partially resected.

Research

A phenotype centric benchmark of variant prioritisation tools

We hypothesised that the performance of variant prioriisation tools may vary by disease phenotype.

Research

Personalised analytics for rare disease diagnostics

Here we focus on the problem of prioritising variants with respect to the observed disease phenotype

Research

CAGE-defined promoter regions of the genes implicated in Rett Syndrome

A comprehensive picture of the regulatory regions of the three genes involved in Rett Syndrome