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.

In vitro drug susceptibility of two strains of the wildlife trypanosome, Trypanosoma copemani: A comparison with Trypanosoma cruzi

Compared the in vitro susceptibility of two strains of Trypanosoma copemani and one strain of T. cruzi against drugs that show trypanocidal activity

Transcription start site profiling of 15 anatomical regions of the Macaca mulatta central nervous system

We believe this data represents a useful resource to understand the central nervous system in macaque.

An atlas of human long non-coding RNAs with accurate 5′ ends

Combining these findings with conservation data, we identify 19,175 potentially functional lncRNAs in the human genome.

Protective benefit of predominant breastfeeding against otitis media may be limited to early childhood: results from a prospective birth cohort study

Our findings are in line with a number of epidemiological studies which show a positive association between breastfeeding and OM in early childhood

No simple answers for the Finnish and Russian Karelia allergy contrast: Methylation of CD14 gene

The methylation variation in the promoter region of CD14 gene did not explain the asthma and allergy contrast between Finnish and Russian Karelian children

Immunogenetics of Parasitic and Bacterial Disease

Here we focus on more recent well-powered genome-wide association studies, including malaria, leprosy, tuberculosis, and visceral leishmaniasis

Reference genotype and exome data from an Australian Aboriginal population for health-based research

This data set provides a useful reference point for genomic studies on Aboriginal Australians