A Type 1 Diabetes Genetic Risk Score (T1DGRS) aids diagnosis and prediction of Type 1 Diabetes (T1D). While traditionally derived from imputed array genotypes, Whole Genome Sequencing (WGS) provides a more direct approach and is now increasingly used in clinical and research studies. We investigated the concordance between WGS-based and array-based T1DGRS across genetic ancestries in 149,265 UK Biobank participants using WGS, TOPMed-imputed, and 1000 Genomes-imputed array genotypes.
View Article and Find Full Text PDFIntraspecific variation is important for species' long-term persistence in changing environments. Conservation strategies targeting intraspecific variation often rely on the identification of management or policy units below the species level based on biological differences among populations. To identify management units, this paper examines intraspecific divergence of Lake Trout (Salvelinus namaycush) in Great Slave Lake (GSL), Canada, using low-coverage whole-genome sequencing data.
View Article and Find Full Text PDFBackground: Diabetic ketoacidosis (DKA) is a serious complication of type 1 diabetes (T1D), arising from relative insulin deficiency and leading to hyperglycemia, ketonemia, and metabolic acidosis. Early detection and treatment are essential to prevent severe outcomes. This pediatric case-control study utilized plasma metabolomics to explore metabolic alterations associated with DKA and to identify predictive metabolite patterns.
View Article and Find Full Text PDFArguments by Sorkin (Impossible measurements on quantum fields. In: Directions in general relativity: proceedings of the 1993 International Symposium, Maryland, vol 2, pp 293-305, 1993) and Borsten et al. (Phys Rev D 104(2), 2021.
View Article and Find Full Text PDFRaynaud's phenomenon (RP) is a vasospastic disorder that affects the small blood vessels in the extremities such as the hands, feet, fingers or toes. It is a debilitating condition that can severely impact the patient's quality of life. Botulinum toxin (BTX) has been examined as a treatment option for RP, but its effect has been inconclusive.
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