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Author Details

Karen Eilbeck
University of Utah
1999
60
22
PMIDPaper TitleJournal TitlePublished Year
37982373Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships-allelic requirement, inheritance modes, and disease mechanisms.Genet Med2024
36400330A method for structuring complex clinical knowledge and its representational formalisms to support composite knowledge interoperability in healthcare.J Biomed Inform2023
37794117Whole-genome sequencing analysis of suicide deaths integrating brain-regulatory eQTLs data to identify risk loci and genes.Mol Psychiatry2023
37350879Developing an LSTM Model to Identify Surgical Site Infections using Electronic Healthcare Records.AMIA Jt Summits Transl Sci Proc2023
37203733Proposing a Novel Hybrid Short-Term Exchange Program in Biomedical and Health Informatics Education.Stud Health Technol Inform2023
37128447LocalVar: a local variant collection manager to asynchronously detect synonyms, HGVS expression changes, and variant interpretation changes from ClinVar.AMIA Annu Symp Proc2023
37066232Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms.medRxiv2023
36040784Standard Vocabularies to Improve Machine Learning Model Transferability With Electronic Health Record Data: Retrospective Cohort Study Using Health Care-Associated Infection.JMIR Med Inform2022
35373216An explainable artificial intelligence approach for predicting cardiovascular outcomes using electronic health records.PLOS Digit Health2022
35361157Pain points in parents' interactions with newborn screening systems: a qualitative study.BMC Pediatr2022
33442025Methods and feasibility study for exome sequencing as a universal second-tier test in newborn screening.Genet Med2021
35072136GA4GH: International policies and standards for data sharing across genomic research and healthcare.Cell Genom2021
34457177ResultsMyWay: combining Fast Healthcare Interoperability Resources (FHIR), Clinical Quality Language (CQL), and informational resources to create a newborn screening application.AMIA Jt Summits Transl Sci Proc2021
34389511Sequence Ontology terminology for gene regulation.Biochim Biophys Acta Gene Regul Mech2021
33936443Utilization of BPM+ Health for the Representation of Clinical Knowledge: A Framework for the Expression and Assessment of Clinical Practice Guidelines (CPG) Utilizing Existing and Emerging Object Management Group (OMG) Standards.AMIA Annu Symp Proc2021
32308920Implementing the VMC Specification to Reduce Ambiguity in Genomic Variant Representation.AMIA Annu Symp Proc2020
32665585Redefining fundamental concepts of transcription initiation in bacteria.Nat Rev Genet2020
32477691FHIR Lab Reports: using SMART on FHIR and CDS Hooks to increase the clinical utility of pharmacogenomic laboratory test results.AMIA Jt Summits Transl Sci Proc2020
29790234ClinVar Miner: Demonstrating utility of a Web-based tool for viewing and filtering ClinVar data.Hum Mutat2018
30311390Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene.Hum Mutat2018
29463208The VAAST Variant Prioritizer (VVP): ultrafast, easy to use whole genome variant prioritization tool.BMC Bioinformatics2018
28804138Settling the score: variant prioritization and Mendelian disease.Nat Rev Genet2017
28315672Principles and Recommendations for Standardizing the Use of the Next-Generation Sequencing Variant File in Clinical Settings.J Mol Diagn2017
28368491Viral Pathogen Detection by Metagenomics and Pan-Viral Group Polymerase Chain Reaction in Children With Pneumonia Lacking Identifiable Etiology.J Infect Dis2017
28934425Human Bocavirus Capsid Messenger RNA Detection in Children With Pneumonia.J Infect Dis2017
26818672Unbiased Detection of Respiratory Viruses by Use of RNA Sequencing-Based Metagenomics: a Systematic Comparison to a Commercial PCR Panel.J Clin Microbiol2016
27990175The development of non-coding RNA ontology.Int J Data Min Bioinform2016
27152146The Non-Coding RNA Ontology (NCRO): a comprehensive resource for the unification of non-coding RNA biology.J Biomed Semantics2016
27175225OmniSearch: a semantic search system based on the Ontology for MIcroRNA Target (OMIT) for microRNA-target gene interaction data.J Biomed Semantics2016
27224977Taxonomer: an interactive metagenomics analysis portal for universal pathogen detection and host mRNA expression profiling.Genome Biol2016
26778834The genomic CDS sandbox: An assessment among domain experts.J Biomed Inform2016
25080533Birth of identity: understanding changes to birth certificates and their value for identity resolution.J Am Med Inform Assoc2015
26387907Development of an informatics infrastructure for data exchange of biomolecular simulations: Architecture, data models and ontology.SAR QSAR Environ Res2015
26453491miRNA Nomenclature: A View Incorporating Genetic Origins, Biosynthetic Pathways, and Sequence Variants.Trends Genet2015
26392849Building an Ontology for Identity Resolution in Healthcare and Public Health.Online J Public Health Inform2015
26229585Improving the Sequence Ontology terminology for genomic variant annotation.J Biomed Semantics2015
26019997GFVO: the Genomic Feature and Variation Ontology.PeerJ2015
25631005A high-throughput next-generation sequencing assay for the mitochondrial genome.Methods Mol Biol2015
24702956Phevor combines multiple biomedical ontologies for accurate identification of disease-causing alleles in single individuals and small nuclear families.Am J Hum Genet2014
25954430Clinical decision support for whole genome sequence information leveraging a service-oriented architecture: a prototype.AMIA Annu Symp Proc2014
25954354Evaluation of need for ontologies to manage domain content for the Reportable Conditions Knowledge Management System.AMIA Annu Symp Proc2014
25411644A proposed clinical decision support architecture capable of supporting whole genome sequence information.J Pers Med2014
25025130OMIT: dynamic, semi-automated ontology development for the microRNA domain.PLoS One2014
24931434Technical desiderata for the integration of genomic data with clinical decision support.J Biomed Inform2014
24667040An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.Genome Biol2014
23665194The development of next-generation sequencing assays for the mitochondrial genome and 108 nuclear genes associated with mitochondrial disorders.J Mol Diagn2013
24109560Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.PeerJ2013
20226267Evolution of the Sequence Ontology terms and relationships.J Biomed Inform2011
19933168Novel sequence feature variant type analysis of the HLA genetic association in systemic sclerosis.Hum Mol Genet2010
20796305A standard variation file format for human genome sequences.Genome Biol2010
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Collaborators

University of Utah
Co-authored papers 13
Utah Center for Genetic Discovery, University of Utah
Co-authored papers 6
The Broad Institute of MIT and Harvard
Co-authored papers 6
University of Utah, USA University of Utah Health
Co-authored papers 6
International Society for Biocuration, Lawrence Berkeley National Laboratory, University of Edinburgh, University of Edinburgh School of Biological Sciences
Co-authored papers 6
University at Buffalo
Co-authored papers 5
Georgetown University Medical Center
Co-authored papers 5
Co-authored papers 5
Fabric Genomics Inc.
Co-authored papers 5
Lawrence Berkeley National Laboratory
Co-authored papers 5
European Bioinformatics Institute
Co-authored papers 4
University at Buffalo
Co-authored papers 4
University of Utah
Co-authored papers 4
University of Utah
Co-authored papers 3
University of Washington Medical Center
Co-authored papers 3
Broad Institute of MIT and Harvard
Co-authored papers 3
Ontario Institute for Cancer Research, University Avenue
Co-authored papers 3
University of Cambridge
Co-authored papers 3
Murdoch Children's Research Institute
Co-authored papers 3
School of Pharmaceutical Sciences, Sun Yat-sen University
Co-authored papers 3
Johns Hopkins University School of Medicine
Co-authored papers 3
University of Utah
Co-authored papers 2
Co-authored papers 2
University of California
Co-authored papers 2
Stanford University School of Medicine
Co-authored papers 2
J. Craig Venter Institute
Co-authored papers 2
Broad Institute of MIT and Harvard
Co-authored papers 2
University of Texas M.D. Anderson Cancer Center
Co-authored papers 2
Mayo Clinic Rochester Minnesota USA.
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University of Utah
Co-authored papers 2