Nomi L. Harris

PhEval provides a standardized framework to benchmark phenotype-driven variant and gene prioritisation algorithms using real-world patient data and controlled test corpora.

The paper introduces uPheno, a framework for cross-species phenomics integration by harmonizing phenotype data across species and ontologies.

The paper defines AI-readiness criteria for biomedical data, encompassing seven dimensions, and evaluates them across flagship datasets to ensure ethical and explainable AI practices.

Phenomics Assistant is a chat-based interface that uses LLMs to query the Monarch knowledge graph, improving reliability for non-expert users to explore disease-gene-phenotype relationships.

This paper introduces OBA, a formalized ontology for biological attributes to facilitate data integration across phenotypic, genetic, and environmental data.

The paper introduces a data-driven method to extend cell ontologies for multi-modal single-cell omics data, focusing on the Primary Motor Cortex in humans, mice, and marmosets.

The paper provides a guide to the BRAIN Initiative Cell Census Network (BICCN) data ecosystem, its tools, and resources for analyzing brain cell types across species.

The paper introduces the GA4GH Phenopacket schema to standardize the exchange of phenotypic data for precision medicine applications.

The paper describes how the OBO Foundry formalized its principles into operational rules and implemented automated checks to evaluate ontology compliance, improving interoperability and quality.

KG-COVID-19 creates customizable knowledge graphs for COVID-19 response by integrating siloed biomedical data into structured formats for various research applications.

Apollo is an open-source software tool that enables researchers to collaboratively annotate and refine genomic features through a graphical interface.

Open-source KBase platform unites reference genomes and biochemistry, over 70 apps, Jupyter-based Narratives with provenance, and a Docker SDK for reproducible plant and microbial systems biology.