Publications by authors named "Luca Fumis"
Article Synopsis
- The Open Targets Platform is an open-source knowledge base designed for identifying and prioritizing drug targets with enhanced data and tools.
- Significant updates include a revamped target-disease associations page featuring interactive elements and a new Target Prioritisation view, allowing users to evaluate targets based on clinical relevance and safety.
- The platform now also incorporates a direction of effect assessment from various evidence sources, illustrating how genetic variations impact target functions, thereby aiding in the understanding of disease treatment mechanisms.
Article Synopsis
- The Open Targets Platform is an open-source resource designed to help identify and prioritize drug targets using publicly available data.
- The platform has undergone a complete redesign to improve data integration, user exploration, and overall user experience.
- New features include enhanced gene-disease evidence, safety assessments for drug targets, and machine learning tools for extracting information from research literature.
Genome-wide association studies (GWASs) have identified many variants associated with complex traits, but identifying the causal gene(s) is a major challenge. In the present study, we present an open resource that provides systematic fine mapping and gene prioritization across 133,441 published human GWAS loci. We integrate genetics (GWAS Catalog and UK Biobank) with transcriptomic, proteomic and epigenomic data, including systematic disease-disease and disease-molecular trait colocalization results across 92 cell types and tissues.
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- The Open Targets Platform is a publicly available knowledgebase designed to assist in drug discovery by providing a systematic way to identify and prioritize drug targets based on evidence.
- Since its last update, the platform has undergone 10 releases, enhancing its evidence for target-disease relationships using 20 data sources, including insights from cancer models and genetic analyses.
- Improvements include a refined scoring framework for target evaluation, integration of information on drug safety and adverse reactions, and advancements in user interface and performance for a better overall experience.
Article Synopsis
- Open Targets Genetics is an open-access platform that combines GWAS and functional genomics data to link genetic variants to potential causal genes and traits.
- The resource allows users to search and analyze genetic variants, genes, and disease associations, providing tools for prioritizing potential causal variants across various traits and tissues.
- It offers data visualizations and is accessible through a web portal, bulk downloads, and a GraphQL API, supporting applications in drug discovery and repurposing.
The Open Targets Platform integrates evidence from genetics, genomics, transcriptomics, drugs, animal models and scientific literature to score and rank target-disease associations for drug target identification. The associations are displayed in an intuitive user interface (https://www.targetvalidation.
View Article and Find Full Text PDFWe have designed and developed a data integration and visualization platform that provides evidence about the association of known and potential drug targets with diseases. The platform is designed to support identification and prioritization of biological targets for follow-up. Each drug target is linked to a disease using integrated genome-wide data from a broad range of data sources.
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