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Alcohol use disorder (AUD) is known to have a significant genetic component, yet there remains a substantial gap between its heritability and findings from genome-wide association studies. One potential factor contributing to this gap may be genetic interactions, or epistasis, a largely unexplored aspect in the context of AUD. The aim of this study was to investigate the role of epistasis in AUD susceptibility and severity among American Indians, a population that exhibits the highest rates of AUD among all ethnic groups in the U.
View Article and Find Full Text PDFLifting of travel restrictions brings additional noise in COVID-19 surveillance through wastewater-based epidemiology in post-pandemic period.
Water Res
January 2025
Centre for Technology in Water and Wastewater, School of Civil and Environmental Engineering, University of Technology Sydney, Ultimo, NSW 2007, Australia. Electronic address:
The post-pandemic world still faces ongoing COVID-19 infections, although international travel has returned to pre-pandemic conditions. Wastewater-based epidemiology (WBE) is considered an efficient tool for the population-wide surveillance of COVID-19 infections during the pandemic. However, the performance of WBE in post-pandemic era with travel restrictions lifted remains unknown.
View Article and Find Full Text PDFPrognostic factors in patients with localized and metastatic alveolar rhabdomyosarcoma. A report from two studies and two registries of the Cooperative Weichteilsarkom Studiengruppe CWS.
Cancer Med
January 2025
Department for Children and Adolescents, University Hospital Frankfurt, Goethe University, Frankfurt am Main, Germany.
Background: The histologic classification of rhabdomyosarcoma (RMS) as alveolar (aRMS) or embryonal (eRMS) is of prognostic importance, with the aRMS being associated with a worse outcome. Specific gene fusions (PAX3/7::FOXO1) found in the majority of aRMS have been recognized as markers associated with poor prognosis and are included in current risk stratification instead of histologic subtypes in localized disease. In metastatic disease, the independent prognostic significance of fusion status has not been definitively established.
View Article and Find Full Text PDFThe impact of spray-induced gene silencing on cereal phyllosphere microbiota.
Environ Microbiome
January 2025
Department of Plant Breeding, Swedish University of Agricultural Sciences, Alnarp, Sweden.
Background: Fusarium head blight (FHB) is a major disease affecting cereal crops including wheat, barley, rye, oats and maize. Its predominant causal agent is the ascomycete fungus Fusarium graminearum, which infects the spikes and thereby reduces grain yield and quality. The frequency and severity of FHB epidemics has increased in recent years, threatening global food security.
View Article and Find Full Text PDFPredicting RNA-seq coverage from DNA sequence as a unifying model of gene regulation.
Nat Genet
January 2025
Calico Life Sciences LLC, South San Francisco, CA, USA.
Sequence-based machine-learning models trained on genomics data improve genetic variant interpretation by providing functional predictions describing their impact on the cis-regulatory code. However, current tools do not predict RNA-seq expression profiles because of modeling challenges. Here, we introduce Borzoi, a model that learns to predict cell-type-specific and tissue-specific RNA-seq coverage from DNA sequence.
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