37 research outputs found
In vitro effect of pH on resistance of ruminal bacteria to intracellular potassium depletion, and effect of pH and ionophores on ammonia and microbial protein production
Hemostatic efficacy of pathogen-inactivated vs untreated platelets: a randomized controlled trial
Stemcel biology/Regenerative medicine (incl. bloodtransfusion
Efeito da monensina e da própolis sobre a atividade de fermentação de aminoácidos in vitro pelos microrganismos ruminais
Adição de Lipídios na Ração de Vacas Leiteiras: Parâmetros Fermentativos Ruminais, Produção e Composição do Leite
Efeito do fornecimento de diferentes fontes de lipídeos na dieta sobre o consumo, a digestibilidade e o N-uréico plasmático de novilhos bubalinos em confinamento
Fermentação ruminal e produção de metano em bovinos alimentados com feno de capim-tifton 85 e concentrado com aditivos
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes
Hundreds of thousands of genetic variants have been reported to cause severe monogenic diseases, but the probability that a variant carrier develops the disease (termed penetrance) is unknown for virtually all of them. Additionally, the clinical utility of common polygenetic variation remains uncertain. Using exome sequencing from 77,184 adult individuals (38,618 multi-ancestral individuals from a type 2 diabetes case-control study and 38,566 participants from the UK Biobank, for whom genotype array data were also available), we apply clinical standard-of-care gene variant curation for eight monogenic metabolic conditions. Rare variants causing monogenic diabetes and dyslipidemias display effect sizes significantly larger than the top 1% of the corresponding polygenic scores. Nevertheless, penetrance estimates for monogenic variant carriers average 60% or lower for most conditions. We assess epidemiologic and genetic factors contributing to risk prediction in monogenic variant carriers, demonstrating that inclusion of polygenic variation significantly improves biomarker estimation for two monogenic dyslipidemias
Recommended from our members
Towards global coverage of gridded parameterization for CLImate GENerator (CLIGEN)
Stochastic weather generators create time series that reproduce key weather dynamics present in long-term observations. The dataset detailed herein is a large-scale gridded parameterization for CLImate GENerator (CLIGEN) that fills spatial gaps in the coverage of existing regional CLIGEN parameterizations, thereby obtaining near-global availability of combined coverages. This dataset primarily covers countries north of 40° latitude with 0.25° spatial resolution. Various CLIGEN parameters were estimated based on 20-year records from four popular global climate products. Precipitation parameters were statistically downscaled to estimate point-scale values, while point-scale temperature and solar radiation parameters were approximated by direct calculation from high-resolution datasets. Surrogate parameter values were used in some cases, such as with wind parameters. Cross-validation was done to assess the downscaling approach for six precipitation parameters using known point-scale values from ground-based CLIGEN parameterizations. These parameter values were derived from daily accumulation records at 7,281 stations and high temporal resolution records at 609 stations. Two sensitive parameters, monthly average storm accumulation and maximum 30-minute intensity, were shown have RMSE values of 1.48 mm and 4.67 mm hr−1, respectively. Cumulative precipitation and the annual number of days with precipitation occurrence were both within 5% of ground-based parameterizations, effectively improving climate data availability. © 2023 The Author(s). Published by Taylor & Francis Group and Science Press on behalf of the International Society for Digital Earth, supported by the International Research Center of Big Data for Sustainable Development Goals, and CASEarth Strategic Priority Research Programme.Open access journalThis item from the UA Faculty Publications collection is made available by the University of Arizona with support from the University of Arizona Libraries. If you have questions, please contact us at [email protected]