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Sensitization to immune checkpoint blockade through activation of a STAT1/NK axis in the tumor microenvironment

Our results identify a pretreatment tumor microenvironment that predicts response to immune checkpoint blockade, which can be therapeutically attained

Functional genomics in cancer immunotherapy: Computational approaches for biomarker and drug discovery

This review explores computational strategies to yield biological insight into the processes involved in the immunotherapeutic response

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 SKIV…

A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers

There is a critical need for the field to develop and implement strategies to understand the mechanisms underlying all rare diseases and translate th…

C1 CAGE detects transcription start sites and enhancer activity at single-cell resolution.

We introduce C1 CAGE, a method for the detection of transcript 5'-ends with an original sample multiplexing strategy in the C1TM microfluidic system

Integration of genetics and miRNA-target gene network identified disease biology implicated in tissue specificity

Our result highlighted that miRNA-target gene network contributes to human disease genetics in a cell type-specific manner

Association of maternal prenatal smoking GFI1-locus and cardio-metabolic phenotypes in 18,212 adults

Epigenetic changes at the GFI1 were linked to smoking exposure in-utero/in-adulthood and robustly associated with cardio-metabolic risk factors

An unbiased exploration of the human regulatory landscape

We are made up of hundreds of different cell types carrying out a diverse range of functions essential for organism survival. All the information req…

Centre for Advanced Cancer Genomics (CACG)

Current technologies to understand which genes are turned on or off only work on large amounts of biological samples. As a consequence all measuremen…

Undiagnosed Diseases Program (UDP) and Bringing the benefits of precision medicine to children in Western Australia

We have started a project utilising whole genome sequencing of undiagnosed children living in WA to provide a definitive diagnosis. A major challenge…