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An expanded phenotype centric benchmark of variant prioritisation tools

Identifying the causal variant for diagnosis of genetic diseases is challenging when using next-generation sequencing approaches and variant prioritization tools can assist in this task. These tools provide in silico predictions of variant pathogenicity, however they are agnostic to the disease under study. We previously performed a disease-specific benchmark of 24 such tools to assess how they perform in different disease contexts.

Prescribing in a pediatric hospital setting – Lost in translation?

To determine parental understanding of directions on common pediatric prescription pharmacy labels and to identify enablers and barriers that affect interpretation of these labels.

COVID-19 in Ethiopia: A geospatial analysis of vulnerability to infection, case severity and death

COVID-19 has caused a global public health crisis affecting most countries, including Ethiopia, in various ways. This study maps the vulnerability to infection, case severity and likelihood of death from COVID-19 in Ethiopia. Thirty-eight potential indicators of vulnerability to COVID-19 infection, case severity and likelihood of death, identified based on a literature review and the availability of nationally representative data at a low geographic scale, were assembled from multiple sources for geospatial analysis. Geospatial analysis techniques were applied to produce maps showing the vulnerability to infection, case severity and likelihood of death in Ethiopia at a spatial resolution of 1 km×1 km.

Sun exposure: An environmental preventer of metabolic dysfunction?

Emerging preclinical findings suggest that some sun exposure is necessary for optimal metabolic health

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

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 these to clinical care

Transcribed enhancers lead waves of coordinated transcription in transitioning mammalian cells

Our data support a highly generalizable model in which enhancer transcription is the earliest event in successive waves of transcriptional change during...

Gateways to the FANTOM5 promoter level mammalian expression atlas

The FANTOM5 project investigates transcription initiation activities in more than 1,000 human and mouse primary cells, cell lines and tissues using CAGE.

Recording a history of alcohol use in pregnancy: an audit of knowledge, attitudes and practice at a child development service

To assess the effectiveness of alcohol documentation and to measure the practice of health practitioners in relation to asking about alcohol and pregnancy.

Senior Research Officer - Brain and Behaviour