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Decades-old work picked up by Google’s DeepMind leads to global scientific breakthrough

A researcher's work from 20 years ago has helped to crack one of biology’s biggest mysteries.

The rare and undiagnosed diseases diagnostic service – application of massively parallel sequencing in a state-wide clinical service

The Rare and Undiagnosed Diseases Diagnostic Service refers to a genomic diagnostic platform operating within the Genetic Services of Western Australia

CXCR1 and SLC11A1 polymorphisms affect susceptibility to cutaneous leishmaniasis in Brazil: a case-control and family-based study

To look at the interplay between PMN and macrophages in disease progression in humans we asked whether polymorphisms at genes that regulate their infiltration..

Unraveling the genetics of otitis media: From mouse to human and back again

Otitis media (OM) is among the most common illnesses of early childhood, characterised by the presence of inflammation in the middle ear cavity...

The genetic associations of acute anterior uveitis and their overlap with the genetics of ankylosing spondylitis

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...

Polymorphism in a lincRNA Associates with a Doubled Risk of Pneumococcal Bacteremia in Kenyan Children

Identified an association between polymorphisms in a long intergenic non-coding RNA (lincRNA) gene (AC011288.2) and pneumococcal bacteremia

A "Candidate-Interactome" Aggregate Analysis of Genome-Wide Association Data in Multiple Sclerosis

The interaction between genotype and Epstein Barr virus emerges as relevant for multiple sclerosis etiology.

Alternative Recruitment Strategies Influence Saliva Sample Return Rates in Community-Based Genetic Association Studies

Using data from three large-scale genetic association studies we compared recruitment strategy and sample return rates.

Genetic and epigenetic susceptibility to early life infection

To date there have been relatively few studies on genetic determinants of susceptibility to neonatal infection and many of these have methodological...