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Research

Defining the microbes in the middle ear and upper respiratory tract that lead to recurrent ear infections – a metagenomic study

Using the latest sequencing technology to examine the microbial composition of the middle ear & nasopharyngeal region, the site of initial colonization of OM

Research

SeqNextGen: Translating NextGen Sequencing for the Diagnosis of Developmental Anomalies and Rare Diseases

Development and implementation of a person-centric Model of Care for people living with developmental anomalies and rare diseases in Western Australia.

Research

Comparison of Methods to Account for Relatedness in Genome-Wide Association Studies with Family-Based Data

Here we compare the performance of several LMM approaches (and software implementations, including EMMAX, GenABEL, FaST-LMM, Mendel, GEMMA and MMM) via their...

Research

Genetic and functional evidence for a locus controlling otitis media at chromosome 10q26.3

Otitis media (OM) is a common childhood disease characterised by middle ear effusion and inflammation.

Research

Genome-wide association study of intraocular pressure identifies the GLCCI1/ICA1 region as a glaucoma susceptibility locus

We found a novel association between intraocular pressure and a common variant at 7p21 near to GLCCI1 and ICA1.

Research

Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus

Barrett's esophagus is an increasingly common disease that is strongly associated with reflux of stomach acid and usually a hiatus hernia, and it strongly...

Research

Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus

Barrett's esophagus is an increasingly common disease that is strongly associated with reflux of stomach acid and usually a hiatus hernia,...

Research

Statistical adjustment of genotyping error in a case-control study of childhood leukaemia

Genotyping has become more cost-effective and less invasive with the use of buccal cell...

Research

Genetic and functional evaluation of the role of DLL1 in susceptibility to visceral leishmaniasis in India

Chromosome 6q26-27 is linked to susceptibility to visceral leishmaniasis (VL) in Brazil and Sudan.

Research

Candidate gene association study for diabetic retinopathy in persons with type 2 diabetes: the Candidate gene Association Resource (CARe)

To investigate whether variants in cardiovascular candidate genes, some of which have been previously associated with type 2 diabetes (T2D), diabetic...