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Here we focus on more recent well-powered genome-wide association studies, including malaria, leprosy, tuberculosis, and visceral leishmaniasis
This data set provides a useful reference point for genomic studies on Aboriginal Australians
Multiethnic associations between T2D and SNPs at TCF7L2, CAPN10 and HHEX extend to Sub-Saharan Africa, specifically Sudan
The Rare and Undiagnosed Diseases Diagnostic Service refers to a genomic diagnostic platform operating within the Genetic Services of Western Australia
These findings also suggest that variants in ERAP1 have a differential impact on the risk of AAU when compared with AS, and hence the genetic risk for AAU...
Identified an association between polymorphisms in a long intergenic non-coding RNA (lincRNA) gene (AC011288.2) and pneumococcal bacteremia
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.
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.
We recently identified C. pseudodiphtheriticum and D. pigrum as the major nasopharyngeal species associated with resistance to recurrent ear infections
Here we focus on the problem of prioritising variants with respect to the observed disease phenotype