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Lancashire, L.

Publications and source records attributed to Lancashire, L..

4 recordsLinked to original sources

NetMedGPT - A network medicine foundation model for extensive disease mechanism mining and drug repurposing

Network medicine leverages large biomedical knowledge graphs (KGs) to model disease mechanisms and identify therapeutic opportunities. However, most deep learning approaches that use KGs in biomedicine remain task-specific, limiting their ability to generalize across diverse applications within a unified framework. Here, we introduce NetMedGPT, a transformer-based foundation model trained on a large-scale biomedical KG using masked token prediction. By learning contextualized representations of biomedical nodes, NetMedGPT enables unified, zero-shot inference across different drug discovery tasks. Specifically, in five tasks, i.e., predicting the association of drugs with indications, targets, adverse drug reactions, contraindications, and off-label uses, NetMedGPT consistently outperforms all specialized baselines, achieving area under the precision-recall curve gains of between 2.2% and 26%. When evaluated on independent external datasets, NetMedGPT outperformed baseline on an expert-curated clinical indications set and also preferentially prioritized clinically relevant drug-disease pairs in ClinicalTrials.gov. NetMedGPTs generative capability further supports the construction of mechanistically plausible subnetworks offering biological insights. NetMedGPT provides a unified foundation model for network medicine that supports scalable hypothesis generation and provides potential to accelerate drug repurposing. We further provided an interactive interface (https://prototypes.cosy.bio/chatnetmedgpt/) that allows users to obtain model inferences through natural-language queries.

bioinformatics↗

PTSD Biomarker Database: Deep Dive Meta-database for PTSD Biomarkers, Visualizations, and Analysis Tools

The PTSD Biomarker Database (PTSDDB) is a database that provides a landscape view of physiological markers being studied as putative biomarkers in the current post-traumatic stress disorder (PTSD) literature to enable researchers to quickly explore and compare findings. The PTSDDB currently contains over 900 biomarkers and their relevant information from 109 original articles published from 1997 to 2017. Further, the curated content stored in this database is complemented by a web application consisting of multiple interactive visualizations that enable the investigation of biomarker knowledge in PTSD (e.g., clinical study metadata, biomarker findings, experimental methods, etc.) by compiling results from biomarker studies to visualize the level of evidence for single biomarkers and across functional categories. This resource is the first attempt, to the best of our knowledge, to capture and organize biomarker and metadata in the area of PTSD for storage in a comprehensive database that may, in turn, facilitate future analysis and research in the field. Database URLhttps://ptsd.scai.fraunhofer.de

bioinformatics↗

DNA methylation oscillation defines classes of enhancers

Understanding the regulatory landscape of human cells requires the integration of genomic and epigenomic maps, capturing combinatorial levels of cell type-specific and invariant activity states.\n\nHere, we segmented whole-genome bisulfite sequencing-derived methylomes into consecutive blocks of co-methylation (COMETs) to obtain spatial variation patterns of DNA methylation (DNAm oscillations) integrated with histone modifications and promoter-enhancer interactions derived from promoter capture Hi-C (PCHi-C) sequencing of the same purified blood cells.\n\nMapping DNAm oscillations onto regulatory genome annotation revealed that enhancers are enriched for DNAm hyper-oscillations (>30-fold), where multiple machine learning models support DNAm as predictive of enhancer location. Based on this analysis, we report overall predictive power of 99% for DNAm oscillations, 77.3% for DNaseI, 41% for CGIs, 20% for UMRs and 0% for LMRs, demonstrating the power of DNAm oscillations over other methods for enhancer prediction. Methylomes of activated and non-activated CD4+ T cells indicate that DNAm oscillations exist in both states irrespective of activation; hence they can be used to determine the location of latent enhancers.\n\nOur approach advances the identification of tissue-specific regulatory elements and outperforms previous approaches defining enhancer classes based on DNA methylation.

genomics↗

pdxBlacklist: Identifying artefactual variants in patient-derived xenograft samples

Patient-derived tumor xenograft (PDX) samples typically represent a mixture of mouse and human tissue. Variant call sets derived from sequencing such samples are commonly contaminated with false positive variants that arise when mouse-derived reads are mapped to the human genome. pdxBlacklist is a novel approach designed to rapidly identify these false-positive variants, and thus significantly improve variant call set quality.\n\nAvailabilitypdxBlacklist is freely available on GitHub: https://github.com/MaxSalm/pdxBlacklist\n\nContactmaxsalm3@gmail.com\n\nSupplementary informationSupplementary data are available.

genomics↗