Pulmonary arterial hypertension (PAH) is a rare, life-limiting disease where deficiency of the TGF/BMP pathways have causal roles in hereditary and idiopathic forms. It is an attractive candidate for therapeutic intervention but there is an unmet need for clinically-relevant and practical biomarkers that can measure target engagement. A major challenge has been the inaccessibility of […]
Machine Learning and Micro Capture-C resolve GWAS associations revealing endothelial stress pathways in Coronary Artery Disease
Resolving the gene targets of non-coding genetic variation is the major bottleneck in translating genome wide association studies into mechanistic understanding of complex diseases such as coronary artery disease (CAD). Combining new Transformer-based Machine Learning (ML) approaches trained on cardiovascular epigenetics with high-resolution, allele-specific genomic and transcriptomic technologies we create a highly scalable platform to […]
Predicting Invasiveness of Lung Adenocarcinoma from Chest CT with Few-shot Vision-Language Ternary Classification Model
npj Digital Medicine, Published online: 20 December 2025; doi:10.1038/s41746-025-02229-2 Predicting Invasiveness of Lung Adenocarcinoma from Chest CT with Few-shot Vision-Language Ternary Classification Model
The structure-preserving spectral graph neural network for dual kinase inhibitors and synergy scoring in gastric cancer
npj Digital Medicine, Published online: 20 December 2025; doi:10.1038/s41746-025-02240-7 The structure-preserving spectral graph neural network for dual kinase inhibitors and synergy scoring in gastric cancer
Does more data solve the problem of deep support? A phylogenomic approach to clarifying evolutionary relationships in the Lecanoraceae
The family Lecanoraceae is one of the most diverse groups within Lecanoromycetes, yet its internal relationships have remained unresolved despite previous multilocus studies. Here we present the first phylogenomic reconstruction of the family, based on 1003 nuclear orthologous genes from 65 genome assemblies representing the major species groups and genera. Phylogenetic trees inferred from coalescent-based […]
Uncovering Multi-Omics Profiles of Population Heterogeneity: A Cluster-Based Bayesian Approach
Understanding the heterogeneous nature of genetic effects is critical for advancing our knowledge of the genetic architecture of complex traits and developing personalized management strategies. However, existing methods often rely on pre-specified modifying variables to model this heterogeneity, limiting their ability to capture effects driven by complex or unobserved factors. Here, we propose MOCHA (Multi-Omics […]
Stakeholder Perspectives on the Adaptability of Hospital Drug Formularies to Disease Patterns: A Modified Q-Methodology Study in Vietnam
Background Hospital drug formularies function within Complex Adaptive Systems (CAS), where the alignment between drug supply and disease patterns is critical for patient care and cost-effectiveness. However, measuring this adaptability is challenging due to conflicting priorities among stakeholders and a lack of standardized assessment tools. Objectives This study aims to analyze the perspectives of three […]
Script Generation as an Efficient Measure of Cognition and Everyday Function in Older Adults
Objectives: A Script Generation Task (SGT), requiring participants to verbally describe the steps of everyday activities, was investigated as an efficient tool to detect mild functional difficulties and mild cognitive impairment (MCI). Methods: 83 participants (n=57 HC; n=26 MCI) completed a SGT, performance-based test of everyday function, cognitive tests, and questionnaires. SGT responses were transcribed […]
Quality of maternal and newborn care, perinatal mental health and the emotional birth experience of women: findings of the IMAgiNE EURO study in Belgium
ABSTRACT Background In Belgium, maternal and newborn health indicators indicate high quality of care compared to other countries of Europe. However, some challenges still persist in the quality of maternal and newborn care (QMNC) and little is known regarding women’s experience with care and their mental health (MH). Methods We conducted a cross-sectional survey among […]
Identification and genomic characterisation of BA.3.2: a highly divergent BA.3-related SARS-CoV-2 lineage from southern Africa
In November 2024, a highly divergent BA.3 related SARS-CoV-2 lineage, designated BA.3.2, was detected in South Africa, marking the first appearance of a BA.3 derived lineage in over two years. Phylogenetic reconstruction places BA.3.2 on an extended branch descending from ancestral BA.3, with no intermediate genomes detected, consistent with a prolonged period of unsampled or […]