Authors
Ellen M McDonagh, Gosia Trynka, Mark McCarthy, Emily Rose Holzinger, Shameer Khader, Nikolina Nakic, Xinli Hu, Helena Cornu, Ian Dunham, David Hulcoop
Publication date
2024/4/12
Source
Annual Review of Biomedical Data Science
Volume
7
Publisher
Annual Reviews
Description
Open Targets, a consortium among academic and industry partners, focuses on using human genetics and genomics to provide insights to key questions that build therapeutic hypotheses. Large-scale experiments generate foundational data, and open-source informatic platforms systematically integrate evidence for target–disease relationships and provide dynamic tooling for target prioritization. A locus-to-gene machine learning model uses evidence from genome-wide association studies (GWAS Catalog, UK BioBank, and FinnGen), functional genomic studies, epigenetic studies, and variant effect prediction to predict potential drug targets for complex diseases. These predictions are combined with genetic evidence from gene burden analyses, rare disease genetics, somatic mutations, perturbation assays, pathway analyses, scientific literature, differential expression, and mouse models to systematically build …
Scholar articles
EM McDonagh, G Trynka, M McCarthy, ER Holzinger… - Annual Review of Biomedical Data Science, 2024