492 research outputs found
Data for: Bivariate Genome-Wide Association Scan Identifies 6 Novel Loci Associated With Lipid Levels and Coronary Artery Disease.
No full textSummary of Bivariate GWAS scan results reported in:
Bivariate Genome-Wide Association Scan Identifies 6 Novel Loci Associated With Lipid Levels and Coronary Artery Disease. Siewert KM, Voight BF. Circ Genom Precis Med. 2018 Dec;11(12):e002239. doi: 10.1161/CIRCGEN.118.002239.
PMID: 3052598
Data For: Identifying rare variants inconsistent with identity-by-descent in population-scale whole-genome sequencing data
No full textSimulation output and Genome-wide scan for nIBD variants in UK10K data as reported in:
Identifying rare variants inconsistent with identity-by-descent in population-scale whole-genome sequencing data
Johnson KE, Adams CJ, Voight BF. Methods Ecol Evol 2022 Nov;13(11): 2429–2442.
Code available at: https://github.com/kelsj/EVICOR
Revised Figure 4
No full text<p>(A) Previous published and (B) corrected simulation results for the central 99% range of unstandardized iHS for SNPs in the Yoruba data and for SNPs in matched neutral simulations, originally presented as Figure 4 in Voight et al. As before, the upper and lower lines mark the boundaries of the central 99% distribution of the unstandardized iHS ratio, as a function of derived allele frequency. The gray lines plot results for a range of plausible demographic models. Note the similarity of the revised figure (panel B) to the previously published figure 4 (panel A), which continue to demonstrate that the observed iHS scores for the Yoruban Hapmap sample are more extreme than under the (correctly) simulated growth models presented in panel B, above.</p
Keen on the tenure track job, are you? Know these things, you should
No full textAbstract Success along the tenure track requires more than hard work and long hours. Here, the experiences of a recently tenured professor are distilled into a collection of tips to assist others along the path
Type 1 diabetes in Africa:an immunogenetic study in the Amhara of North-West Ethiopia
No full textAims/hypothesis We aimed to characterise the immunogenic background of insulin-dependent diabetes in a resource-poor rural African community. The study was initiated because reports of low autoantibody prevalence and phenotypic differences from European-origin cases with type 1 diabetes have raised doubts as to the role of autoimmunity in this and similar populations. Methods A study of consecutive, unselected cases of recently diagnosed, insulin-dependent diabetes (n = 236, ≤35 years) and control participants (n = 200) was carried out in the ethnic Amhara of rural North-West Ethiopia. We assessed their demographic and socioeconomic characteristics, and measured non-fasting C-peptide, diabetes-associated autoantibodies and HLA-DRB1 alleles. Leveraging genome-wide genotyping, we performed both a principal component analysis and, given the relatively modest sample size, a provisional genome-wide association study. Type 1 diabetes genetic risk scores were calculated to compare their genetic background with known European type 1 diabetes determinants. Results Patients presented with stunted growth and low BMI, and were insulin sensitive; only 15.3% had diabetes onset at ≤15 years. C-peptide levels were low but not absent. With clinical diabetes onset at ≤15, 16–25 and 26–35 years, 86.1%, 59.7% and 50.0% were autoantibody positive, respectively. Most had autoantibodies to GAD (GADA) as a single antibody; the prevalence of positivity for autoantibodies to IA-2 (IA-2A) and ZnT8 (ZnT8A) was low in all age groups. Principal component analysis showed that the Amhara genomes were distinct from modern European and other African genomes. HLA-DRB1*03:01 (p = 0.0014) and HLA-DRB1*04 (p = 0.0001) were positively associated with this form of diabetes, while HLA-DRB1*15 was protective (p < 0.0001). The mean type 1 diabetes genetic risk score (derived from European data) was higher in patients than control participants (p = 1.60 × 10−7 ). Interestingly, despite the modest sample size, autoantibody-positive patients revealed evidence of association with SNPs in the well-characterised MHC region, already known to explain half of type 1 diabetes heritability in Europeans. Conclusions/interpretation The majority of patients with insulin-dependent diabetes in rural North-West Ethiopia have the immunogenetic characteristics of autoimmune type 1 diabetes. Phenotypic differences between type 1 diabetes in rural NorthWest Ethiopia and the industrialised world remain unexplained
Air pollution in the Latrobe Valley and its impact upon respiratory morbidity, 1988
No full textThis thesis was scanned from the print manuscript for digital preservation and is copyright the author.
Researchers can access this thesis by asking their local university, institution or public library to
make a request on their behalf. Monash staff and postgraduate students can use the link in the References field
Human genetics offers an emerging picture of common pathways and mechanisms in autoimmunity
No full textIn genetic studies of autoimmune and inflammatory diseases, one clear finding that has emerged from genome-wide association studies is that a substantial fraction of variation modifying risk in one disease also contributes mediate risk to multiple, additional autoimmune and inflammatory diseases. The unexpected magnitude of this overlap presents the unique opportunity to dissect the pathogenic mechanisms underlying multiple disease states in the expectation that this may lead to both more sensitive diagnostics and novel therapies. Here, we review the current evidence for this shared genetic architecture and, based on these data, outline models for shared pathways, the underlying hypotheses for them, how these models can be tested and validated
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