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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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Comparative analyses of whole genome sequences of Leishmania infantum isolates from humans and dogs in northeastern BrazilOverall the analyses do not suggest individual sequence variants account for differences in clinical outcome or adaptation to different hosts.
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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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Comprehensive candidate gene analysis for symptomatic or asymptomatic outcomes of Leishmania infantum infection in BrazilOur results imply a role for IgG-mediated inflammation in determining delayed-type hypersensitivity associated with asymptomatic leishmaniasis
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Polygenic risk of ischemic stroke is associated with cognitive abilityFindings from this study indicate that even in the absence of stroke, being at high polygenic risk of ischemic stroke is associated with lower cognitive ability
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First genome-wide association study in an Australian Aboriginal population provides insights into genetic risk factors for body mass index and type 2 diabetesA body mass index (BMI) >22kg/m2 is a risk factor for type 2 diabetes (T2D) in Aboriginal Australians.
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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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Genome-wide association study of IgG1 responses to the choline-binding protein PspC of Streptococcus pneumoniaeDelayed development of antibodies to S. pneumoniae in infancy is associated with the development of atopy and asthma.
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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...