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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

Uniformly low expression of IFN and IFNGR1 in PKDL skin biopsies could explain parasite persistence

The polygenic nature of childhood ALL predisposition together with the timing of environmental triggers may hold vital clues for disease etiology.

This genome-wide association study (GWAS) utilises data from the Western Australian Pregnancy Cohort (Raine) Study for 25-hydroxyvitamin D (25(OH)D) levels...

Dissecting how genetic and environmental influences impact on learning is helpful for maximizing numeracy and literacy.

This paper reviews American cutaneous leishmaniasis (ACL) immunogenetics in the state of Bahia (BA), northeastern Brazil, highlighting the interacting roles...

This study examines whether polymorphisms in the ERBB2 gene were associated with leprosy in primary and replication cohorts from northeastern Brazil.