Robert R. Freimuth

Orcid: 0000-0002-9673-5612

According to our database1, Robert R. Freimuth authored at least 45 papers between 2008 and 2024.

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Bibliography

2024
Enabling the clinical application of artificial intelligence in genomics: a perspective of the AMIA Genomics and Translational Bioinformatics Workgroup.
J. Am. Medical Informatics Assoc., January, 2024

2023
Representing NIH Genetic Test Registry Data in the FHIR Genomic Study Resource.
Proceedings of the Healthcare Transformation with Informatics and Artificial Intelligence, 2023

2022
Leveraging a pharmacogenomics knowledgebase to formulate a drug response phenotype terminology for genomic medicine.
Bioinform., November, 2022

Under-specification as the source of ambiguity and vagueness in narrative phenotype algorithm definitions.
BMC Medical Informatics Decis. Mak., 2022

A research agenda to support the development and implementation of genomics-based clinical informatics tools and resources.
J. Am. Medical Informatics Assoc., 2022

2021
Genomic considerations for FHIR®; eMERGE implementation lessons.
J. Biomed. Informatics, 2021

Recommendations for the safe, effective use of adaptive CDS in the US healthcare system: an AMIA position paper.
J. Am. Medical Informatics Assoc., 2021

Infobuttons for Genomic Medicine: Requirements and Barriers.
Appl. Clin. Inform., 2021

Modeling Variant Annotation (VA) Therapeutic Association Statements using a SEPIO-Based Workflow.
Proceedings of the AMIA 2021, American Medical Informatics Association Annual Symposium, San Diego, CA, USA, October 30, 2021, 2021

The GA4GH Variation Representation Specification (VRS): a Computational Framework for the Precise Representation of Molecular Variation.
Proceedings of the AMIA 2021, American Medical Informatics Association Annual Symposium, San Diego, CA, USA, October 30, 2021, 2021

Content in Context - Individualizing Knowledge Resources for Delivery at the Point of Care.
Proceedings of the AMIA 2021, American Medical Informatics Association Annual Symposium, San Diego, CA, USA, October 30, 2021, 2021

2020
Sync for Genes: Making Clinical Genomics Available for Precision Medicine at the Point-of-Care.
Appl. Clin. Inform., 2020

2019
Automated Extraction of Computable Clinical Decision Support Rules from an Electronic Health Record (EHR) System.
Proceedings of the AMIA 2019, 2019

Sync for Genes: Integrating Genetic Information at the Point of Care.
Proceedings of the AMIA 2019, 2019

2018
Empowering genomic medicine by establishing critical sequencing result data flows: the eMERGE example.
J. Am. Medical Informatics Assoc., 2018

A Scalable Encoding Scheme for Clinical Genomic Results Delivered Through Web Services and a Mobile Application.
Proceedings of the AMIA 2018, 2018

2017
Development & Implementation of a Clinical Decision Support Tool for Familial Hypercholesterolemia.
Proceedings of the AMIA 2017, 2017

2016
The genomic CDS sandbox: An assessment among domain experts.
J. Biomed. Informatics, 2016

Harnessing next-generation informatics for personalizing medicine: a report from AMIA's 2014 Health Policy Invitational Meeting.
J. Am. Medical Informatics Assoc., 2016

An informatics research agenda to support precision medicine: seven key areas.
J. Am. Medical Informatics Assoc., 2016

Developing knowledge resources to support precision medicine: principles from the Clinical Pharmacogenetics Implementation Consortium (CPIC).
J. Am. Medical Informatics Assoc., 2016

Integrating Genomic Resources with Electronic Health Records using the HL7 Infobutton Standard.
Appl. Clin. Inform., 2016

Practical considerations for implementing genomic information resources.
Appl. Clin. Inform., 2016

Translational Bioinformatics 101.
Proceedings of the Biocomputing 2016: Proceedings of the Pacific Symposium, 2016

Towards a Standard Ontology Metadata Model.
Proceedings of the Joint International Conference on Biological Ontology and BioCreative, 2016

The Clinical Pharmacogenetics Implementation Consortium (CPIC) Term Standardization for Clinical Pharmacogenetic Test Results: Alleles and Phenotypes.
Proceedings of the Summit on Clinical Research Informatics, 2016

Knowledge as a Service at the Point of Care.
Proceedings of the AMIA 2016, 2016

2015
Pharmacogenomic knowledge representation, reasoning and genome-based clinical decision support based on OWL 2 DL ontologies.
BMC Medical Informatics Decis. Mak., 2015

CSER and eMERGE: current and potential state of the display of genetic information in the electronic health record.
J. Am. Medical Informatics Assoc., 2015

Public Implementation Resources for Genomic Medicine.
Proceedings of the AMIA 2015, 2015

Creating Shareable Clinical Decision Support Rules for a Pharmacogenomics Clinical Guideline Using Structured Knowledge Representation.
Proceedings of the AMIA 2015, 2015

2014

Evaluation of RxNorm for Medication Clinical Decision Support.
Proceedings of the AMIA 2014, 2014

2013
A weighted random forests approach to improve predictive performance.
Stat. Anal. Data Min., 2013

Disambiguation of PharmGKB drug-disease relations with NDF-RT and SPL.
J. Biomed. Informatics, 2013

Harmonization and semantic annotation of data dictionaries from the Pharmacogenomics Research Network: A case study.
J. Biomed. Informatics, 2013

A semantic-web oriented representation of the clinical element model for secondary use of electronic health records data.
J. Am. Medical Informatics Assoc., 2013

An RDF/OWL Knowledge Base for Query Answering and Decision Support in Clinical Pharmacogenetics.
Proceedings of the MEDINFO 2013, 2013

Using standardized clinical data modeling and knowledge representation to compute pharmacogenomic data elements.
Proceedings of the AMIA 2013, 2013

2012
Life sciences domain analysis model.
J. Am. Medical Informatics Assoc., 2012

SNP interaction detection with Random Forests in high-dimensional genetic data.
BMC Bioinform., 2012

Integrating VA's NDF-RT Drug Terminology with PharmGKB: Preliminary Results.
Proceedings of the Biocomputing 2012: Proceedings of the Pacific Symposium, 2012

A Semantic-Web Oriented Representation of Clinical Element Model for Secondary Use of Electronic Healthcare Data.
Proceedings of the 2012 IEEE Second International Conference on Healthcare Informatics, 2012

Mining Genotype-Phenotype Associations from Electronic Health Records and Biorepositories using Semantic Web Technologies.
Proceedings of the AMIA 2012, 2012

2008
caBIG™ Compatibility Review System: Software to Support the Evaluation of Applications Using Defined Interoperability Criteria.
Proceedings of the AMIA 2008, 2008


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