Julie A. McMurry

Systematic benchmarking demonstrates large language models have not reached the diagnostic accuracy of traditional rare-disease decision support tools

This study benchmarks large language models against a traditional diagnostic tool for genetic disease diagnosis using 5,213 case reports, finding LLMs lag behind in accuracy.

Development of self-phenotyping tools to empower patients and improve diagnostics

The paper evaluates two self-phenotyping tools, showing that GenomeConnect provides more accurate phenotype profiles while Phenotypr offers greater precision and user preference for its autocomplete format.

The Unified Phenotype Ontology (uPheno): A framework for cross-species integrative phenomics

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

The Ontology of Biological Attributes (OBA) - Computational Traits for the Life Sciences

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

Unifying the Identification of Biomedical Entities with the Bioregistry

The paper introduces the Bioregistry, an open metaregistry that integrates and expands existing biomedical entity registries to improve interoperability and data reuse.

The GA4GH Phenopacket schema: A computable representation of clinical data for precision medicine

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

Interpretable prioritization of splice variants in diagnostic next-generation sequencing

SQUIRLS prioritizes splice variants by calculating interpretable features and achieving higher accuracy and speed than existing methods in simulated exomes.

The impact of biological sex on alternative splicing

The paper identifies sex-biased differential alternative splicing across multiple human tissues and links it to gene function and estrogen response.

Interpretable Clinical Genomics with a Likelihood Ratio Paradigm

The paper introduces LIRICAL, a likelihood ratio-based framework for genomic diagnostics that improves accuracy and interpretability in phenotype-driven rare disease diagnosis.

A harmonized meta-knowledgebase of clinical interpretations of cancer genomic variants

The paper harmonizes clinical interpretations of cancer genomic variants across six knowledgebases, improving overlap and matching with patient cohorts.

Uniform Resolution of Compact Identifiers for Biomedical Data

The paper describes the harmonization of identifier resolution services to enable persistent, machine-resolvable citations for biomedical data.

Identifiers for the 21st century:How to design, provision, and reuse persistent identifiers to maximize utility and impact of life science data

The paper outlines ten lessons for designing, provisioning, and reusing persistent identifiers to improve data integration in life sciences.

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.