2022 updates to the Rat Genome Database: a Findable, Accessible, Interoperable, and Reusable (FAIR) resource.

The Rat Genome Database (RGD, https://rgd.mcw.edu) has evolved from simply a resource for rat genetic markers, maps, and genes, by adding multiple genomic data types and extensive disease and phenotype annotations and developing tools to effectively mine, analyze, and visualize the available data, to empower investigators in their hypothesis-driven research. Leveraging its robust and flexible infrastructure, RGD has added data for human and eight other model organisms (mouse, 13-lined ground squirrel, chinchilla, naked mole-rat, dog, pig, African green monkey/vervet, and bonobo) besides rat to enhance its translational aspect. This article presents an overview of the database with the most recent additions to RGD's genome, variant, and quantitative phenotype data. We also briefly introduce Virtual Comparative Map (VCMap), an updated tool that explores synteny between species as an improvement to RGD's suite of tools, followed by a discussion regarding the refinements to the existing PhenoMiner tool that assists researchers in finding and comparing quantitative data across rat strains. Collectively, RGD focuses on providing a continuously improving, consistent, and high-quality data resource for researchers while advancing data reproducibility and fulfilling Findable, Accessible, Interoperable, and Reusable (FAIR) data principles.

Predicting instances of pathway ontology classes for pathway integration.

BACKGROUND: To improve the outcomes of biological pathway analysis, a better way of integrating pathway data is needed. Ontologies can be used to organize data from disparate sources, and we leverage the Pathway Ontology as a unifying ontology for organizing pathway data. We aim to associate pathway instances from different databases to the appropriate class in the Pathway Ontology. RESULTS: Using a supervised machine learning approach, we trained neural networks to predict mappings between Reactome pathways and Pathway Ontology (PW) classes. For 2222 Reactome classes, the neural network (NN) model generated 10,952 class recommendations. We compared against a baseline bag-of-words (BOW) model for predicting correct PW classes. A 5% subset of Reactome pathways (111 pathways) was randomly selected, and the corresponding class recommendations from both models were evaluated by two curators. The precision of the BOW model was higher (0.49 for BOW and 0.39 for NN), but the recall was lower (0.42 for BOW and 0.78 for NN). Around 78% of Reactome pathways received pertinent recommendations from the NN model. CONCLUSIONS: The neural predictive model produced meaningful class recommendations that assisted PW curators in selecting appropriate class mappings for Reactome pathways. Our methods can be used to reduce the manual effort associated with ontology curation, and more broadly, for augmenting the curators' ability to organize and integrate data from pathway databases using the Pathway Ontology.