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General Kernel Machine Methods for Multi-Omics Integration and Genome-Wide Association Testing With Related Individuals.
Genet Epidemiol
January 2025
Department of Biostatistics, University of Washington, Seattle, Washington, USA.
Integrating multi-omics data may help researchers understand the genetic underpinnings of complex traits and diseases. However, the best ways to integrate multi-omics data and use them to address pressing scientific questions remain a challenge. One important and topical problem is how to assess the aggregate effect of multiple genomic data types (e.
View Article and Find Full Text PDFHigher bone cement volume in total knee arthroplasty lowers the risk of postoperative radiolucent lines.
Knee Surg Sports Traumatol Arthrosc
January 2025
Department of Orthopedics and Trauma, Medical University of Graz, Graz, Austria.
Purpose: >The aim of this multicenter study was to analyze the potential impact of patient demographics and cementation technique towards the development of radiolucent lines (RLLs) in primary total knee arthroplasty (TKA). It was hypothesized that cementation techniques, including higher cement volume, double-layer cementation technique and hardening in full extension, reduce RLL incidence by improving stability, whereas demographic factors such as age, BMI and smoking may increase RLL risk by affecting bone quality and mechanical loading.
Methods: Altogether, 776 patients (median age: 70.
Genomic and phenotypic correlates of mosaic loss of chromosome Y in blood.
Am J Hum Genet
January 2025
Division of Biostatistics, Data Science Institute, Medical College of Wisconsin, Milwaukee, WI, USA; Cancer Center, Medical College of Wisconsin, Milwaukee, WI, USA. Electronic address:
Mosaic loss of Y (mLOY) is the most common somatic chromosomal alteration detected in human blood. The presence of mLOY is associated with altered blood cell counts and increased risk of Alzheimer disease, solid tumors, and other age-related diseases. We sought to gain a better understanding of genetic drivers and associated phenotypes of mLOY through analyses of whole-genome sequencing (WGS) of a large set of genetically diverse males from the Trans-Omics for Precision Medicine (TOPMed) program.
View Article and Find Full Text PDFPain is a dynamic and nonlinear experience shaped by injury and contextual factors, including expectations of future pain or relief . While µ opioid receptors are central to the analgesic effects of opioid drugs, the endogenous opioid neurocircuitry underlying pain and placebo analgesia remains poorly understood. The ventrolateral column of the posterior periaqueductal gray is a critical hub for nociception and endogenous analgesia mediated by opioid signaling .
View Article and Find Full Text PDFhas been identified in human and mouse HD brain as the pathogenic exon 1 mRNA generated from aberrant splicing between exon 1 and 2 that contributes to aggregate formation and neuronal dysfunction (Sathasivam et al., 2013). Detection of the HTT exon 1 protein (HTTex1p) has been accomplished with surrogate antibodies in fluorescence-based reporter assays (MSD, HTRF), and immunoprecipitation assays, in HD postmortem cerebellum and knock-in mice but direct detection by SDS-PAGE and western blot assay has been lacking.
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