The 574 kilobase pair 16p11.2 microdeletion raises a person’s odds for neurodevelopmental and energy balance conditions, particularly autism and obesity. There is considerable clinical heterogeneity and how much this reflects genetic versus environmental or stochastic factors is unclear. Forebrain interneurons originate from progenitors residing in the ventricular zone of the foetal ventral telencephalon and their […]
Integrated Proteomic and Network Analysis Reveals Dysregulated Pathways and Candidate Proteins in Multiple Myeloma Progression
Background: Multiple myeloma (MM) remains incurable despite therapeutic advances, reflecting limited understanding of the molecular mechanisms underlying disease initiation and progression. MM develops through asymptomatic precursor stages, monoclonal gammopathy of undetermined significance (MGUS) and smouldering multiple myeloma (SMM). This study aimed to investigate protein changes associated with disease progression and, through a further integrative approach, […]
Filovirus Evidence Maps: A community resource to identify and curate the published evidence on immunity and vaccination for BDBV, EBOV, MARV, and SUDV
Filoviruses pose a threat to individuals and the global community as pathogens of pandemic potential. The scientific community faces an ongoing challenge of developing effective vaccines with unpredictable outbreaks concentrated in countries with lower healthcare resources. Given these limitations, it is important to ensure that existing filovirus research is used as efficiently as possible. To […]
TRENDS-Thai: decadal trends of dengue, chikungunya, and hand, foot, and mouth disease in Thailand (2016-2025): a multi-disease time-series analysis of COVID-19 disruption
Introduction: Dengue, chikungunya, and hand, foot, and mouth disease (HFMD) are priority notifiable infections in Thailand. Whether vector-borne and contact-mediated diseases responded differently to the coronavirus disease 2019 pandemic has not been quantified within a unified national surveillance framework over an extended period. Methods: We conducted an ecological interrupted time-series analysis using weekly province-level notifiable […]
Sex-specific associations between metabolic dysregulation and knee pain: a 9-year population-based cohort study
Introduction Knee pain is a highly prevalent condition in the general population and is more common than knee osteoarthritis. Population-based evidence linking metabolic dysfunction to knee pain remains limited, and data on sex-specific effects are scarce. Therefore, we examined sex-specific associations between metabolic dysregulation and knee pain in a population-based cohort. Method We analyzed data […]
Patient and caregiver lived experiences and mental health service engagement during first-episode psychosis in Uganda: a longitudinal mixed-methods study protocol
Introduction: Engagement with mental health services (MHCS) during the first episode of psychosis (FEP) is critical for symptom control, quality of life, and relapse prevention. However, disengagement rates remain high in Uganda with severe consequences for patients and caregivers. This study protocol describes a mixed-methods investigation which aims to examine the relationship between patients and […]
Comprehensive analysis of de novo variants across 2,497 orofacial cleft trios reveals novel genetic drivers of disease
Background Orofacial clefts (OFCs) and other palate abnormalities (PAs) are among the most common birth defects worldwide and are characterized by the abnormal formation of the lip and/or palate. Genetic studies have traditionally classified OFC cases as either syndromic, involving OFCs alongside other congenital anomalies, or nonsyndromic, which represent the majority of cases and occur […]
Spatio-temporal machine learning for multi-horizon prediction of bluetongue outbreaks
Reliable early warning of infectious disease outbreaks remains a major challenge for surveillance systems, particularly for vector-borne pathogens whose transmission depends on interactions among hosts, vectors, and climate-sensitive environmental conditions. Data-driven forecasting offers a promising approach for predicting outbreak risk using surveillance and environmental data. This study develops a logit-weighted ensemble (LWE), a machine-learning framework […]
Predicting Influenza Virus Host Tropism and Zoonotic Spillover Risk from Protein Sequences
Novel infectious diseases, predominantly originating from non-human animals, pose a significant threat to global public health and economic stability. Avian influenza virus presents an especially significant challenge due to its high mortality rates and spillover capability into new host species. Recent H5N1 spillover events into poultry and cattle resulted in massive economic burden and increased […]
Polarity remodeling of ventricular cardiomyocyte precursors during heart morphogenesis is required for ventricular chamber formation
Vertebrate heart development requires precise regulation of morphogenetic movements and dysregulation causes congenital heart defects. However, cell polarity remodeling during early heart tube formation remains underexplored. Here, we show that zebrafish ventricular cardiomyocyte precursors (vCPCs) undergo striking polarity reorientation as they transition from a single-layered epithelium to a transient double-layered configuration by involution. During this […]
Beyond student outcomes: How creating Open Educational Resources benefits authors in a research coordination network
Open educational resources (OERs) contain authentic materials that benefit students, but few studies have focused on the benefits to authors of OERs. This gap needs attention considering the challenges that OER authors face, given their commitments to multiple professional activities while also being motivated to take part in OER development. It is critical to understand […]
Efficient and accurate near telomere-to-telomere haplotype reconstruction of diploid genomes
Telomere-to-telomere (T2T) and haplotype-resolved assembly are crucial for understanding eukaryotic genomes. For diploid species, this resolution is critical to uncover allelic variations, inheritance patterns, and functional genomic traits. Current scaffolding methods typically employ either sequence-based or graph-based strategies.Sequence-based approaches rely on proximity signals to yield high contiguity, but underutilize assembly graph information, resulting in more […]