Matthew Brush

Generating Biomedical Knowledge Graphs from Knowledge Bases, Registries, and Multiomic Data

The paper describes the transformation of multiomics and EHR data into privacy-preserving biomedical knowledge graphs within the Biomedical Data Translator ecosystem.

The GA4GH Variation Representation Specification (VRS): a Computational Framework for the Precise Representation and Federated Identification of Molecular Variation

The paper introduces the GA4GH Variation Representation Specification (VRS), a framework for precise and federated representation of molecular variation, with a reference implementation and community resources available online.

Loss-of-function in IRF2BPL is associated with neurological phenotypes

This study identifies damaging variants in IRF2BPL associated with neurological phenotypes in humans and shows functional conservation in fruit flies.

The Monarch Initiative: Insights across species reveal human disease mechanisms

The paper describes the Monarch Initiative, a platform that integrates multimodal data across species to enhance genotype-phenotype analysis and precision medicine.

Navigating the phenotype frontier: The Monarch Initiative

The paper introduces the Monarch Initiative, a resource that unifies genomic and phenotypic data across species to improve understanding of health and disease.