Topic · Health Information Management · Health Professions

Electronic Health Records Systems

OpenAlex topic; a paper is listed when OpenAlex scores it at least 0.5 for this topic.

8 papers

Genomics in nephrology: identifying informatics opportunities to improve diagnosis of genetic kidney disorders using a human-centered design approach

Katrina M. Romagnoli, Zachary M. Salvati, Darren K. Johnson, Heather M. Ramey, Alex R. Chang, Marc S. Williams

This study identifies informatics opportunities to improve genetic diagnosis of kidney disorders by understanding nephrologists' needs and barriers through interviews and service blueprints.

Journal of the American Medical Informatics Association · Mar 4, 2024Peer-reviewedGenetic & Genomic Medicine

Genetically Guided Precision Medicine Clinical Decision Support Tools: A Systematic Review

Darren K. Johnson, Guilherme Del Fiol, Kensaku Kawamoto, Katrina M. Romagnoli, Nathan Sanders, Grace Isaacson, Elden Jenkins, Marc S. Williams

This paper reviews CDS tools for genetically guided precision medicine, finding limited use of standards-based genomic data transfer and inconsistent evaluation methods.

Journal of the American Medical Informatics Association · Feb 19, 2024Peer-reviewedGenetic & Genomic Medicine

Neptune: An environment for the delivery of genomic medicine

Eric Venner, Victoria Yi, David R. Murdock, Sara E. Kalla, Tsung-Jung Wu, Aniko Sabo, Shoudong Li, Qingchang Meng, Tian Xia, Mullai Murugan, Michelle L. Cohen, Christie Kovar, Wei‐Qi Wei, Wendy K. Chung, Chunhua Weng, , Andrea L. Hartzler

Neptune delivers structured genomic data to EHR systems through customizable reports and variant reanalysis, supporting over 15,000 clinical reports.

Genetics in Medicine · Jul 13, 2021Peer-reviewedBioinformatics

Genomic Considerations for FHIR; eMERGE Implementation Lessons

Mullai Murugan, Lawrence J. Babb, Casey Overby Taylor, Luke V. Rasmussen, Robert R. Freimuth, Eric Venner, Fei Yan, Victoria Yi, Stephen J. Granite, Hana Zouk, Samuel Aronson, Kevin Power, Alex Fedotov, David R. Crosslin, David A. Fasel, , Richard A. Gibbs

This paper describes the implementation of HL7 FHIR standards for representing clinical genomics results in the eMERGE Networks, improving interoperability for genetic data management.

Journal of Biomedical Informatics · Apr 28, 2021Peer-reviewedGenomics

Leaf -- An open-source, model-agnostic, data-driven web application for cohort discovery and translational biomedical research

Nicholas J Dobbins, Clifford H Spital, Robert A. Black, Jason M Morrison, Bas de Veer, Elizabeth Zampino, Robert D. Harrington, Bethene D Britt, Kari A. Stephens, Adam B Wilcox, Peter Z Tarczy-Hornoch, Sean David Mooney

Leaf is a web application that enables querying and extracting clinical data from multiple sources without requiring specialized informatics expertise.

Journal of the American Medical Informatics Association · Aug 28, 2019Peer-reviewedBioinformatics

The Generalized Data Model for Clinical Research

Mark D. Danese, Marc Halperin, Jennifer L. Duryea, Ryan Duryea

The paper introduces a generalized data model for clinical research that simplifies data transformation while preserving semantic and hierarchical information.

BMC Medical Informatics and Decision Making · Jun 24, 2019Peer-reviewedBioinformatics

OpenEHR modeling for genomics in clinical practice

Cecilia Mascia, Paolo Uva, Simone Leo, Gianluigi Zanetti

This paper introduces openEHR archetypes for integrating genomic data into electronic health records and compares them to HL7 FHIR standard.

International Journal of Medical Informatics · Oct 16, 2018Peer-reviewedBioinformatics

CogStack - Experiences Of Deploying IntegratedInformation Retrieval And Extraction Services In A Large National Health Service Foundation Trust Hospital

Richard Jackson, Ismail Emre Kartoglu, Asha Agrawal, Kenneth Lui, Honghan Wu, Tudor Groza, Angus Roberts, Genevive Gorrell, Xingyi Song, Damian Lewsley, Doug Northwood, Amos Folarin, Clive Stringer, Robert J. Stewart, Richard Dobson

The paper describes the development and deployment of an open-source information retrieval and extraction system in a UK hospital to improve data flow and governance while supporting clinical and research needs.

BMC Medical Informatics and Decision Making · Jun 25, 2018Peer-reviewedBioinformatics