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Reference exome data for a Northern Brazilian populationExome 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.
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Linking the westernised oropharyngeal microbiome to the immune response in Chinese immigrantsHuman 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.
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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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A Genome-Wide Search for Type 2 Diabetes Susceptibility Genes in an Extended Arab FamilyWe performed a discovery GWAS in an extended UAE family (N = 178; 66 diabetic; 112 healthy) genotyped on the Illumina Human 660 Quad Beadchip, with...
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Genetic and epigenetic susceptibility to early life infectionTo date there have been relatively few studies on genetic determinants of susceptibility to neonatal infection and many of these have methodological...
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Alternative Recruitment Strategies Influence Saliva Sample Return Rates in Community-Based Genetic Association StudiesUsing data from three large-scale genetic association studies we compared recruitment strategy and sample return rates.
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A "Candidate-Interactome" Aggregate Analysis of Genome-Wide Association Data in Multiple SclerosisThe interaction between genotype and Epstein Barr virus emerges as relevant for multiple sclerosis etiology.
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Genetic and functional evidence for a role for SLC11A1 in susceptibility to otitis media in early childhood in a Western Australian populationOtitis media (OM) is a common disease in early childhood characterised by inflammation of the middle ear.
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Association of a NOD2 gene polymorphism and T-helper 17 cells with presumed ocular toxoplasmosisWe assessed 30 sibships and 89 parent/case trios of presumed ocular toxoplasmosis (POT) to evaluate associations with polymorphisms in the NOD2 gene.