Polygenic scores (PGS) are typically derived from single-trait genome-wide association studies (GWAS), yet many complex diseases arise from shared genetic liability distributed across correlated clinical dimensions. Accordingly, disease risk depends not only on how genetic liability is represented but also on the social context in which that liability is expressed. Whether phenome-derived latent factors improve […]
Broadband gamma-band EEG changes during magnetophosphene perception induced by 20 Hz magnetic field stimulation
Objective. Magnetophosphenes are visual percepts induced by extremely low-frequency magnetic fields (ELF-MF; <300 Hz), yet their EEG correlates remain poorly characterized and are not reliably captured by classical low-frequency markers. We tested whether magnetophosphene perception is associated with broadband high-frequency EEG changes rather than focal oscillatory effects. Approach. EEG was recorded in N=13 healthy volunteers […]
Herpes simplex virus type 1 DNA is less prevalent in persons with Alzheimers disease and genetic factors modify the effect
INTRODUCTION: Herpes simplex virus-1 (HSV-1) has been implicated in Alzheimers disease (AD). METHODS: Reads from Alzheimers Disease Sequencing Project whole-genome sequencing data collected from brain (2,203 AD; 616 controls) and blood (8,908 AD; 15,768 controls) were aligned to viral genomes. Generalized linear mixed-models tested for the effect of HSV-1 DNA on AD, and we performed […]
Unsupervised Machine Learning for Adaptive Immune Receptors with immuneML
Machine learning (ML) enables adaptive immune receptor repertoires (AIRRs) analyses for biomarker identification and therapeutic development. With the majority of AIRR data partially or imperfectly labeled, unsupervised ML is essential for motif discovery, biologically meaningful clustering, and generation of novel receptor sequences. However, no unified framework for unsupervised ML exists in the AIRR field, hindering […]
Non-invasive prehabilitation before neurosurgery modifies the topography of brain language networks without compromising function
Patients with brain tumors involving language-critical regions face surgical limitations when balancing resection with preservation of function. Non-invasive neuromodulation-induced prehabilitation (NIP) aims to guide preoperative neuroplastic reorganization, potentially facilitating larger resections while preserving function. We investigated whether NIP selectively modulates the targeted language network compared with control networks, and whether such modulation is behaviorally safe. […]
Multi-Ancestry Epigenome-Wide Meta-Analysis Identifies Novel Bulk and Cell-Type-Specific Epigenetic Markers of Asthma with Severe Exacerbations
Background: Extreme-phenotype comparisons allowed the discovery of novel asthma genetic risk loci. However, this approach remains unexplored in epigenome-wide association studies (EWAS). We aimed to identify bulk and cell-specific methylation markers of asthma with severe exacerbations across diverse ancestry groups. Methods: We conducted a meta-EWAS of 739,543 CpGs in whole blood among 1,192 African American […]
Validation of methods for forecasting the frequency of non-vaccine serotypes after introduction or switch of a pneumococcal conjugate vaccine
Background To anticipate the impact of new pneumococcal vaccines and guide future updates, accurate forecasts of changes in non-vaccine serotypes (NVTs) are needed. We developed and evaluated three models that incorporated different assumptions about the way in which NVTs will increase and generated ensemble predictions for the frequency of NVTs in different post- pneumococcal conjugate […]
Evaluating a Multitask AI Model versus Humans for Portion Size Estimation
Background: Accurate dietary assessment is essential for precision nutrition and effective nutrition surveillance. However, portion size estimation remains a persistent challenge, particularly in culturally diverse regions such as Central Asia. Traditional self-reporting tools often yield inconsistent results due to communal eating practices and unfamiliarity with standard measures. Objective: To address these limitations, this study aimed […]
Soluble CD27 as an indicator of autoimmune disease in severe psychiatric disorders
T-cell activation may be contributing to severe psychiatric disorders. Soluble CD27 (sCD27) – a marker for T-cell activation and disease activity in several autoimmune diseases – was evaluated as a tool for distinguishing T-cell activity in selected patients with severe psychiatric disorders, multiple sclerosis (MS), and controls. We hypothesise that elevated sCD27 levels will be […]
Polygenic risk scores enhance the identification of carriers of monogenic forms of idiopathic pulmonary fibrosis
Background: Idiopathic pulmonary fibrosis (IPF) is a rare disease with a poor prognosis. Disease risk involves rare and common genetic variants. However, an inverse association have been described between them. Accordingly, IPF patients with a higher polygenic risk score (PRS) for IPF are less likely to carry rare deleterious variants and vice versa. Here, we […]
Sex moderates apolipoprotein E ε4 effects on sleep expression and memory retention
Introduction: Sleep-dependent memory consolidation differs by sex and maybe disrupted by Alzheimer disease (AD) risk. Whether sex moderates associations between apolipoprotein E varepsilon4(APOE varepsilon4) status, non-rapid eye movement (NREM) sleep, and memory remains unclear. Methods: Eighty cognitively unimpaired older adults completed a word-pair memory task with encoding and immediate testing occurring prior to overnight polysomnography […]
Inter-scanner reproducibility of brain multifrequency MR elastography
Background: Brain magnetic resonance elastography (MRE) is an emerging quantitative neuroimaging technique that provides noninvasive maps of brain tissue viscoelasticity. For multi-center applications, robust cross-site reproducibility across scanner platforms is essential but remains insufficiently characterized. Purpose: To evaluate cross-site reproducibility of brain multifrequency MRE measurements between two MRI scanner platforms using harmonized protocols. Study Type: […]