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        Research

        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. ...

        Research

        Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort

        The purpose of this study was therefore to comprehensively examine the genetic architecture of Adams-Oliver syndrome in an extensive cohort ...

        Research

        Overlapping Streptococcus pyogenes and Streptococcus dysgalactiae subspecies equisimilis household transmission and mobile genetic element exchange

        Streptococcus dysgalactiae subspecies equisimilis and Streptococcus pyogenes share skin and throat niches with extensive genomic homology and horizontal gene transfer possibly underlying shared disease phenotypes. ...

        Research

        New genetic predictors for abacavir tolerance in HLA-B*57:01 positive individuals

        We investigated immune and non-immune related genes to determine other factors required for the development of Abacavir hypersensitivity syndrome ...

        Research

        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... ...

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        Large-scale study uncovers a single major genetic risk factor for fatal parasitic disease

        Research has identified a critical genetic risk factor for a potentially fatal parasitic disease that affects up to 400 thousand people a year, mostly children. ...

        Research

        PI3K/mTOR is a therapeutically targetable genetic dependency in diffuse intrinsic pontine glioma

        Diffuse midline glioma (DMG), including tumors diagnosed in the brainstem (diffuse intrinsic pontine glioma; DIPG), are uniformly fatal brain tumors that lack effective treatment. ...

        Research

        Multilocus Sequence Typing Reveals Extensive Genetic Diversity of the Emerging Fungal Pathogen Scedosporium aurantiacum

        Scedosporium spp. are the second most prevalent filamentous fungi after Aspergillus spp. recovered from cystic fibrosis (CF) patients in various regions of the world. Although invasive infection is uncommon prior to lung transplantation, fungal colonization may be a risk factor for invasive disease with attendant high mortality post-transplantation. Abundant in the environment, Scedosporium aurantiacum has emerged as an important fungal pathogen in a range of clinical settings. ...

        Research

        Association of Genetic and Environmental Factors with Autism in a 5-Country Cohort

        Based on population data from 5 countries, the heritability of ASD was estimated to be approximately 80% ...

        Research

        Genetic studies of body mass index yield new insights for obesity biology

        To understand the genetic basis of obesity better, here we conduct a genome-wide association study and Metabochip meta-analysis of body mass index (BMI),... ...

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