arXiv subjects

Richard D. Boyce

Publications and source records attributed to Richard D. Boyce.

5 recordsLinked to original sources

arXiv2025

TempoQL: A Readable, Precise, and Portable Query System for Electronic Health Record Data

Electronic health record (EHR) data is an essential data source for machine learning for health, but researchers and clinicians face steep barriers in extracting and validating EHR data for modeling. Existing tools incur trade-offs between expressivity and usability and are typically specialized to a single data standard, making it difficult to write temporal queries that are ready for modern model-building pipelines and adaptable to new datasets. This paper introduces TempoQL, a Python-based toolkit designed to lower these barriers. TempoQL provides a simple, human-readable language for temporal queries; support for multiple EHR data standards, including OMOP, MEDS, and others; and an interactive notebook-based query interface with optional large language model (LLM) authoring assistance. Through a performance evaluation and two use cases on different datasets, we demonstrate that TempoQL simplifies the creation of cohorts for machine learning while maintaining precision, speed, and reproducibility.

cs.HC↗

arXiv2024

An Open-Source Knowledge Graph Ecosystem for the Life Sciences

Translational research requires data at multiple scales of biological organization. Advancements in sequencing and multi-omics technologies have increased the availability of these data, but researchers face significant integration challenges. Knowledge graphs (KGs) are used to model complex phenomena, and methods exist to construct them automatically. However, tackling complex biomedical integration problems requires flexibility in the way knowledge is modeled. Moreover, existing KG construction methods provide robust tooling at the cost of fixed or limited choices among knowledge representation models. PheKnowLator (Phenotype Knowledge Translator) is a semantic ecosystem for automating the FAIR (Findable, Accessible, Interoperable, and Reusable) construction of ontologically grounded KGs with fully customizable knowledge representation. The ecosystem includes KG construction resources (e.g., data preparation APIs), analysis tools (e.g., SPARQL endpoints and abstraction algorithms), and benchmarks (e.g., prebuilt KGs and embeddings). We evaluated the ecosystem by systematically comparing it to existing open-source KG construction methods and by analyzing its computational performance when used to construct 12 large-scale KGs. With flexible knowledge representation, PheKnowLator enables fully customizable KGs without compromising performance or usability.

cs.AI↗

arXiv2023

Ontologizing Health Systems Data at Scale: Making Translational Discovery a Reality

Background: Common data models solve many challenges of standardizing electronic health record (EHR) data, but are unable to semantically integrate all the resources needed for deep phenotyping. Open Biological and Biomedical Ontology (OBO) Foundry ontologies provide computable representations of biological knowledge and enable the integration of heterogeneous data. However, mapping EHR data to OBO ontologies requires significant manual curation and domain expertise. Objective: We introduce OMOP2OBO, an algorithm for mapping Observational Medical Outcomes Partnership (OMOP) vocabularies to OBO ontologies. Results: Using OMOP2OBO, we produced mappings for 92,367 conditions, 8611 drug ingredients, and 10,673 measurement results, which covered 68-99% of concepts used in clinical practice when examined across 24 hospitals. When used to phenotype rare disease patients, the mappings helped systematically identify undiagnosed patients who might benefit from genetic testing. Conclusions: By aligning OMOP vocabularies to OBO ontologies our algorithm presents new opportunities to advance EHR-based deep phenotyping.

cs.DB↗

arXiv2022

Developing a Knowledge Graph Framework for Pharmacokinetic Natural Product-Drug Interactions

Pharmacokinetic natural product-drug interactions (NPDIs) occur when botanical natural products are co-consumed with pharmaceutical drugs. Understanding mechanisms of NPDIs is key to preventing adverse events. We constructed a knowledge graph framework, NP-KG, as a step toward computational discovery of pharmacokinetic NPDIs. NP-KG is a heterogeneous KG with biomedical ontologies, linked data, and full texts of the scientific literature, constructed with the Phenotype Knowledge Translator framework and the semantic relation extraction systems, SemRep and Integrated Network and Dynamic Reasoning Assembler. NP-KG was evaluated with case studies of pharmacokinetic green tea- and kratom-drug interactions through path searches and meta-path discovery to determine congruent and contradictory information compared to ground truth data. The fully integrated NP-KG consisted of 745,512 nodes and 7,249,576 edges. Evaluation of NP-KG resulted in congruent (38.98% for green tea, 50% for kratom), contradictory (15.25% for green tea, 21.43% for kratom), and both congruent and contradictory (15.25% for green tea, 21.43% for kratom) information. Potential pharmacokinetic mechanisms for several purported NPDIs, including the green tea-raloxifene, green tea-nadolol, kratom-midazolam, kratom-quetiapine, and kratom-venlafaxine interactions were congruent with the published literature. NP-KG is the first KG to integrate biomedical ontologies with full texts of the scientific literature focused on natural products. We demonstrate the application of NP-KG to identify pharmacokinetic interactions involving enzymes, transporters, and pharmaceutical drugs. We envision that NP-KG will facilitate improved human-machine collaboration to guide researchers in future studies of pharmacokinetic NPDIs. The NP-KG framework is publicly available at https://doi.org/10.5281/zenodo.6814507 and https://github.com/sanyabt/np-kg.

cs.AI↗

arXiv2021

Introducing Information Retrieval for Biomedical Informatics Students

Introducing biomedical informatics (BMI) students to natural language processing (NLP) requires balancing technical depth with practical know-how to address application-focused needs. We developed a set of three activities introducing introductory BMI students to information retrieval with NLP, covering document representation strategies and language models from TF-IDF to BERT. These activities provide students with hands-on experience targeted towards common use cases, and introduce fundamental components of NLP workflows for a wide variety of applications.

cs.CL↗