Search

A flexible computational pipeline for research analyses of unsolved clinical exome cases

Exome sequencing has enabled molecular diagnoses for rare disease patients but often with initial diagnostic rates of ~25-30%. Here we develop a robust computational pipeline to rank variants for reassessment of unsolved rare disease patients. A comprehensive web-based patient report is generated in which all deleterious variants can be filtered by gene, variant characteristics, OMIM disease and Phenolyzer scores, and all are annotated with an ACMG classification and links to ClinVar.

Reference exome data for a Northern Brazilian population

Exome sequencing is widely used in the diagnosis of rare genetic diseases and provides useful variant data for analysis of complex diseases. There is not always adequate population-specific reference data to assist in assigning a diagnostic variant to a specific clinical condition.

Linking the westernised oropharyngeal microbiome to the immune response in Chinese immigrants

Human microbiota plays a fundamental role in modulating the immune response. Western environment and lifestyle are envisaged to alter the human microbiota with a new microbiome profile established in Chinese immigrants, which fails to prime the immune system. Here, we investigated how differences in composition of oropharyngeal microbiome may contribute to patterns of interaction between the microbiome and immune system in Chinese immigrants living in Australia.

A microbiome case-control study of recurrent acute otitis media identified potentially protective bacterial genera

We characterised the nasopharyngeal microbiome of these children in comparison to children with rAOM to identify potentially protective bacteria.

Genome-Wide Analysis of Genetic Risk Factors for Rheumatic Heart Disease in Aboriginal Australians Provides Support for Pathogenic Molecular Mimicry

Rheumatic heart disease (RHD) after group A streptococcus (GAS) infections is heritable and prevalent in Indigenous populations. Molecular mimicry between human and GAS proteins triggers proinflammatory cardiac valve-reactive T cells.

Toxoplasma gondii infection is associated with mitochondrial dysfunction in-vitro

Our results show perturbation of host mitochondrial function following T. gondii infection that likely impacts on pathogenesis of disease.

Toxoplasma Modulates Signature Pathways of Human Epilepsy, Neurodegeneration & Cancer.

disease-deconvolution" identified associations between the parasite-brain interactions and epilepsy, movement disorders, Alzheimer's disease, and cancer.

Burkholderia pseudomallei evades Nramp1 (Slc11a1)- and NADPH oxidase-mediated killing in macrophages and exhibits Nramp1-dependent virulence gene expression

Here we show that transfected macrophages stably expressing wild-type Nramp1 (Nramp1+) control the net replication of B. thailandensis, but not B. pseudomallei.

Expression profiling of Sudanese visceral leishmaniasis patients pre- and post-treatment with sodium stibogluconate

These results contribute to our understanding of immunopathology associated with visceral leishmaniasis and response to sodium stibogluconate treatment

Early childhood development of boys with genital anomalies

We found no increased risk of poor development among boys with hypospadias or undescended testis