Risultati della ricerca - Eilbeck, Karen

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  1. 1
    FHIR Lab Reports: using SMART on FHIR and CDS Hooks to increase the clinical utility of pharmacogenomic laboratory test results

    FHIR Lab Reports: using SMART on FHIR and CDS Hooks to increase the clinical utility of pharmacogenomic laboratory test results di Watkins, Michael, Eilbeck, Karen

    Pubblicazione 2020
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  2. 2
    Sequence Ontology Annotation Guide

    Sequence Ontology Annotation Guide di Eilbeck, Karen, Lewis, Suzanna E.

    Pubblicazione 2004
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  3. 3
    SOBA: sequence ontology bioinformatics analysis

    SOBA: sequence ontology bioinformatics analysis di Moore, Barry, Fan, Guozhen, Eilbeck, Karen

    Pubblicazione 2010
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  4. 4
    Settling the score: variant prioritization and Mendelian disease

    Settling the score: variant prioritization and Mendelian disease di Eilbeck, Karen, Quinlan, Aaron, Yandell, Mark

    Pubblicazione 2017
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  5. 5
    Evolution of the Sequence Ontology terms and relationships

    Evolution of the Sequence Ontology terms and relationships di Mungall, Christopher J., Batchelor, Colin, Eilbeck, Karen

    Pubblicazione 2010
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  6. 6
    Quantitative measures for the management and comparison of annotated genomes

    Quantitative measures for the management and comparison of annotated genomes di Eilbeck, Karen, Moore, Barry, Holt, Carson, Yandell, Mark

    Pubblicazione 2009
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  7. 7
    Implementing the VMC Specification to Reduce Ambiguity in Genomic Variant Representation

    Implementing the VMC Specification to Reduce Ambiguity in Genomic Variant Representation di Watkins, Michael, Rynearson, Shawn, Henrie, Alex, Eilbeck, Karen

    Pubblicazione 2020
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  8. 8
    A Proposed Clinical Decision Support Architecture Capable of Supporting Whole Genome Sequence Information

    A Proposed Clinical Decision Support Architecture Capable of Supporting Whole Genome Sequence Information di Welch, Brandon M., Rodriguez Loya, Salvador, Eilbeck, Karen, Kawamoto, Kensaku

    Pubblicazione 2014
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  9. 9
    Clinical Decision Support for Whole Genome Sequence Information Leveraging a Service-Oriented Architecture: a Prototype

    Clinical Decision Support for Whole Genome Sequence Information Leveraging a Service-Oriented Architecture: a Prototype di Welch, Brandon M., Rodriguez-Loya, Salvador, Eilbeck, Karen, Kawamoto, Kensaku

    Pubblicazione 2014
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  10. 10
    Evaluation of need for ontologies to manage domain content for the Reportable Conditions Knowledge Management System

    Evaluation of need for ontologies to manage domain content for the Reportable Conditions Knowledge Management System di Eilbeck, Karen L., Lipstein, Julie, McGarvey, Sunanda, Staes, Catherine J.

    Pubblicazione 2014
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  11. 11
    3399 Systematically Integrating Microbiomes and Exposomes for Translational Research

    3399 Systematically Integrating Microbiomes and Exposomes for Translational Research di Gouripeddi, Ram, Miller, Andrew, Eilbeck, Karen, Sward, Katherine, Facelli, Julio C.

    Pubblicazione 2019
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  12. 12
    Pain points in parents’ interactions with newborn screening systems: a qualitative study

    Pain points in parents’ interactions with newborn screening systems: a qualitative study di Conway, Mike, Vuong, Truc Thuy, Hart, Kim, Rohrwasser, Andreas, Eilbeck, Karen

    Pubblicazione 2022
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  13. 13
    Improving the Sequence Ontology terminology for genomic variant annotation

    Improving the Sequence Ontology terminology for genomic variant annotation di Cunningham, Fiona, Moore, Barry, Ruiz-Schultz, Nicole, Ritchie, Graham RS, Eilbeck, Karen

    Pubblicazione 2015
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  14. 14
    Building an Ontology for Identity Resolution in Healthcare and Public Health

    Building an Ontology for Identity Resolution in Healthcare and Public Health di Duncan, Jeffrey, Eilbeck, Karen, Narus, Scott P., Clyde, Stephen, Thornton, Sidney, Staes, Catherine

    Pubblicazione 2015
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  15. 15
    GFVO: the Genomic Feature and Variation Ontology

    GFVO: the Genomic Feature and Variation Ontology di Baran, Joachim, Durgahee, Bibi Sehnaaz Begum, Eilbeck, Karen, Antezana, Erick, Hoehndorf, Robert, Dumontier, Michel

    Pubblicazione 2015
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  16. 16
    ResultsMyWay: combining Fast Healthcare Interoperability Resources (FHIR), Clinical Quality Language (CQL), and informational resources to create a newborn screening application

    ResultsMyWay: combining Fast Healthcare Interoperability Resources (FHIR), Clinical Quality Language (CQL), and informational resources to create a newborn screening application di Watkins, Michael, Au, Alex, Vuong, Truc, Wallis, Heidi, Hart, Kim, Rohrwasser, Andy, Eilbeck, Karen

    Pubblicazione 2021
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  17. 17
    4549 Reproducible Informatics for Reproducible Translational Research

    4549 Reproducible Informatics for Reproducible Translational Research di Gouripeddi, Ram, Sward, Katherine, Cummins, Mollie, Eilbeck, Karen, LaSalle, Bernie, Facelli, Julio C.

    Pubblicazione 2020
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  18. 18
    Utilization 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

    Utilization of BPM+ Health for the Representation of Clinical Knowledge: A Framework for the Expression and Assessment of Clinical Practice Guidelines (CPG) Utilizing Existing and... di Lario, Robert, Hasley, Steve, White, Stephen A, Eilbeck, Karen, Soley, Richard, Huff, Stan, Kawamoto, Kensaku

    Pubblicazione 2021
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  19. 19
    The Sequence Ontology: a tool for the unification of genome annotations

    The Sequence Ontology: a tool for the unification of genome annotations di Eilbeck, Karen, Lewis, Suzanna E, Mungall, Christopher J, Yandell, Mark, Stein, Lincoln, Durbin, Richard, Ashburner, Michael

    Pubblicazione 2005
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  20. 20
    Unbiased Detection of Respiratory Viruses by Use of RNA Sequencing-Based Metagenomics: a Systematic Comparison to a Commercial PCR Panel

    Unbiased Detection of Respiratory Viruses by Use of RNA Sequencing-Based Metagenomics: a Systematic Comparison to a Commercial PCR Panel di Graf, Erin H., Simmon, Keith E., Tardif, Keith D., Hymas, Weston, Flygare, Steven, Eilbeck, Karen, Yandell, Mark, Schlaberg, Robert

    Pubblicazione 2016
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