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SeqNextGen: Translating NextGen Sequencing for the Diagnosis of Developmental Anomalies and Rare DiseasesDevelopment and implementation of a person-centric Model of Care for people living with developmental anomalies and rare diseases in Western Australia.
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Decades-old work picked up by Google’s DeepMind leads to global scientific breakthroughA researcher's work from 20 years ago has helped to crack one of biology’s biggest mysteries.
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Human genetics of leishmania infectionsGWAS results provide firm confirmation for the importance of antigen presentation and the regulation of IFNγ in determining the outcome of Leishmania infections
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Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagusBarrett's esophagus is an increasingly common disease that is strongly associated with reflux of stomach acid and usually a hiatus hernia,...
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Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagusBarrett'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
Statistical adjustment of genotyping error in a case-control study of childhood leukaemiaGenotyping has become more cost-effective and less invasive with the use of buccal cell...
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Genetic and functional evidence for a locus controlling otitis media at chromosome 10q26.3Otitis media (OM) is a common childhood disease characterised by middle ear effusion and inflammation.
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Comparison of Methods to Account for Relatedness in Genome-Wide Association Studies with Family-Based DataHere we compare the performance of several LMM approaches (and software implementations, including EMMAX, GenABEL, FaST-LMM, Mendel, GEMMA and MMM) via their...
Research
Genome-wide association study of intraocular pressure identifies the GLCCI1/ICA1 region as a glaucoma susceptibility locusWe found a novel association between intraocular pressure and a common variant at 7p21 near to GLCCI1 and ICA1.
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Genetic and functional evaluation of the role of DLL1 in susceptibility to visceral leishmaniasis in IndiaChromosome 6q26-27 is linked to susceptibility to visceral leishmaniasis (VL) in Brazil and Sudan.