output
20122025
most citedAn expanded evaluation of protein function prediction methods shows an improvement in accuracy

457 citations

47 papers

cs.CL2025

Evaluating Retrieval-Augmented Generation vs. Long-Context Input for Clinical Reasoning over EHRs

Skatje Myers, Dmitriy Dligach, Timothy A. Miller +6

Objective: To evaluate whether retrieval-augmented generation (RAG) can serve as an efficient alternative to long-context prompting for clinical reasoning over electronic health re…

cs.LG2025

BioNeuralNet: A Graph Neural Network based Multi-Omics Network Data Analysis Tool

Vicente Ramos, Sundous Hussein, Mohamed Abdel-Hafiz +6

Multi-omics data offer unprecedented insights into complex biological systems, yet their high dimensionality, sparsity, and intricate interactions pose significant analytical chall…

q-bio.GN2025

Combining multiplexed functional data to improve variant classification

Atlas of Variant Effects Alliance, :, Jeffrey D. Calhoun +10

With the surge in the number of variants of uncertain significance (VUS) reported in ClinVar in recent years, there is an imperative to resolve VUS at scale. Multiplexed assays of…

q-bio.MN2024★ 6 cited

Genetic studies through the lens of gene networks

Marc Subirana-Granés, Jill Hoffman, Haoyu Zhang +4

Understanding the genetic basis of complex traits is a longstanding challenge in the field of genomics. Genome-wide association studies (GWAS) have identified thousands of variant-…

cs.CY2024★ 4 cited

Learning and teaching biological data science in the Bioconductor community

Jenny Drnevich, Frederick J. Tan, Fabricio Almeida-Silva +15

Modern biological research is increasingly data-intensive, leading to a growing demand for effective training in biological data science. In this article, we provide an overview of…

cs.CY2024★ 10 cited

Environment Scan of Generative AI Infrastructure for Clinical and Translational Science

Betina Idnay, Zihan Xu, William G. Adams +54

This study reports a comprehensive environmental scan of the generative AI (GenAI) infrastructure in the national network for clinical and translational science across 36 instituti…

cs.CL2024★ 17 cited

Lessons Learned on Information Retrieval in Electronic Health Records: A Comparison of Embedding Models and Pooling Strategies

Skatje Myers, Timothy A. Miller, Yanjun Gao +4

Objective: Applying large language models (LLMs) to the clinical domain is challenging due to the context-heavy nature of processing medical records. Retrieval-augmented generation…

q-bio.GN2024★ 2 cited

Computational strategies for cross-species knowledge transfer

Hao Yuan, Christopher A. Mancuso, Kayla Johnson +2

Research organisms provide invaluable insights into human biology and diseases, serving as essential tools for functional experiments, disease modeling, and drug testing. However,…

q-bio.OT2024★ 2 cited

The Vertebrate Breed Ontology: Towards Effective Breed Data Standardization

Kathleen R. Mullen, Imke Tammen, Nicolas A. Matentzoglu +13

Background: Limited universally-adopted data standards in veterinary medicine hinder data interoperability and therefore integration and comparison; this ultimately impedes the app…

cs.CG2024

Box Filtration

Enrique Alvarado, Prashant Gupta, Bala Krishnamoorthy

We define a new framework that unifies the filtration and mapper approaches from TDA, and present efficient algorithms to compute it. Termed the box filtration of a PCD, we grow bo…

cs.AI2023★ 53 cited

Dynamic Retrieval Augmented Generation of Ontologies using Artificial Intelligence (DRAGON-AI)

Sabrina Toro, Anna V Anagnostopoulos, Sue Bello +27

Background: Ontologies are fundamental components of informatics infrastructure in domains such as biomedical, environmental, and food sciences, representing consensus knowledge in…

stat.AP2023★ 1 cited

Walking fingerprinting

Lily Koffman, Ciprian Crainiceanu, Andrew Leroux

We consider the problem of predicting an individual's identity from accelerometry data collected during walking. In a previous paper we introduced an approach that transforms the a…

q-bio.MN2023★ 108 cited

Current and future directions in network biology

Marinka Zitnik, Michelle M. Li, Aydin Wells +34

Network biology is an interdisciplinary field bridging computational and biological sciences that has proved pivotal in advancing the understanding of cellular functions and diseas…

q-bio.OT2023★ 60 cited

The Past, Present, and Future of the Brain Imaging Data Structure (BIDS)

Russell A. Poldrack, Christopher J. Markiewicz, Stefan Appelhoff +111

The Brain Imaging Data Structure (BIDS) is a community-driven standard for the organization of data and metadata from a growing range of neuroscience modalities. This paper is mean…

cs.CL2023★ 91 cited

Leveraging Medical Knowledge Graphs Into Large Language Models for Diagnosis Prediction: Design and Application Study

Yanjun Gao, Ruizhe Li, Emma Croxford +6

Electronic Health Records (EHRs) and routine documentation practices play a vital role in patients' daily care, providing a holistic record of health, diagnoses, and treatment. How…

cs.AI2023★ 113 cited

Structured prompt interrogation and recursive extraction of semantics (SPIRES): A method for populating knowledge bases using zero-shot learning

J. Harry Caufield, Harshad Hegde, Vincent Emonet +9

Creating knowledge bases and ontologies is a time consuming task that relies on a manual curation. AI/NLP approaches can assist expert curators in populating these knowledge bases,…

stat.OT2023★ 1 cited

Successful and sustainable undergraduate research in data science

Audrey E Hendricks

Undergraduate research experiences hold many potential benefits. Students can learn about new areas opening up previously unknown paths in academia and industry. The hands-on exper…

stat.ME2022★ 1 cited

Fast, effective, and coherent time series modeling using the sparsity-ranked lasso

Ryan Peterson, Joseph Cavanaugh

The sparsity-ranked lasso (SRL) has been developed for model selection and estimation in the presence of interactions and polynomials. The main tenet of the SRL is that an algorith…

q-bio.BM2022★ 23 cited

The Coming of Age of Nucleic Acid Vaccines during COVID-19

Halie M. Rando, Ronan Lordan, Likhitha Kolla +8

In the 21st century, several emergent viruses have posed a global threat. Each pathogen has emphasized the value of rapid and scalable vaccine development programs. The ongoing SAR…

cs.DB2022★ 72 cited

Ontology Development Kit: a toolkit for building, maintaining, and standardising biomedical ontologies

Nicolas Matentzoglu, Damien Goutte-Gattat, Shawn Zheng Kai Tan +24

Similar to managing software packages, managing the ontology life cycle involves multiple complex workflows such as preparing releases, continuous quality control checking, and dep…

q-bio.GN2022

Knowledge-Driven Mechanistic Enrichment of the Preeclampsia Ignorome

Tiffany J. Callahan, Adrianne L. Stefanski, Jin-Dong Kim +3

Preeclampsia is a leading cause of maternal and fetal morbidity and mortality. Currently, the only definitive treatment of preeclampsia is delivery of the placenta, which is centra…

cs.LG2022★ 390 cited

Federated Learning Enables Big Data for Rare Cancer Boundary Detection

Sarthak Pati, Ujjwal Baid, Brandon Edwards +276

Although machine learning (ML) has shown promise in numerous domains, there are concerns about generalizability to out-of-sample data. This is currently addressed by centrally shar…

cs.DB2022★ 109 cited

Biolink Model: A Universal Schema for Knowledge Graphs in Clinical, Biomedical, and Translational Science

Deepak R. Unni, Sierra A. T. Moxon, Michael Bada +21

Within clinical, biomedical, and translational science, an increasing number of projects are adopting graphs for knowledge representation. Graph-based data models elucidate the int…

physics.med-ph2022★ 29 cited

Breath analysis by ultra-sensitive broadband laser spectroscopy detects SARS-CoV-2 infection

Qizhong Liang, Ya-Chu Chan, Jutta Toscano +6

Rapid testing is essential to fighting pandemics such as COVID-19, the disease caused by the SARS-CoV-2 virus. Exhaled human breath contains multiple volatile molecules providing p…