Prospective participant selection and ranking to maximize actionable pharmacogenetic variants and discovery in the eMERGE Network View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2015-12

AUTHORS

David R. Crosslin, Peggy D. Robertson, David S. Carrell, Adam S. Gordon, David S. Hanna, Amber Burt, Stephanie M. Fullerton, Aaron Scrol, James Ralston, Kathleen Leppig, Andrea Hartzler, Eric Baldwin, Mariza de Andrade, Iftikhar J. Kullo, Gerard Tromp, Kimberly F. Doheny, Marylyn D. Ritchie, Paul K. Crane, Deborah A. Nickerson, Eric B. Larson, Gail P. Jarvik

ABSTRACT

BACKGROUND: In an effort to return actionable results from variant data to electronic health records (EHRs), participants in the Electronic Medical Records and Genomics (eMERGE) Network are being sequenced with the targeted Pharmacogenomics Research Network sequence platform (PGRNseq). This cost-effective, highly-scalable, and highly-accurate platform was created to explore rare variation in 84 key pharmacogenetic genes with strong drug phenotype associations. METHODS: To return Clinical Laboratory Improvement Amendments (CLIA) results to our participants at the Group Health Cooperative, we sequenced the DNA of 900 participants (61 % female) with non-CLIA biobanked samples. We then selected 450 of those to be re-consented, to redraw blood, and ultimately to validate CLIA variants in anticipation of returning the results to the participant and EHR. These 450 were selected using an algorithm we designed to harness data from self-reported race, diagnosis and procedure codes, medical notes, laboratory results, and variant-level bioinformatics to ensure selection of an informative sample. We annotated the multi-sample variant call format by a combination of SeattleSeq and SnpEff tools, with additional custom variables including evidence from ClinVar, OMIM, HGMD, and prior clinical associations. RESULTS: We focused our analyses on 27 actionable genes, largely driven by the Clinical Pharmacogenetics Implementation Consortium. We derived a ranking system based on the total number of coding variants per participant (75.2±14.7), and the number of coding variants with high or moderate impact (11.5±3.9). Notably, we identified 11 stop-gained (1 %) and 519 missense (20 %) variants out of a total of 1785 in these 27 genes. Finally, we prioritized variants to be returned to the EHR with prior clinical evidence of pathogenicity or annotated as stop-gain for the following genes: CACNA1S and RYR1 (malignant hyperthermia); SCN5A, KCNH2, and RYR2 (arrhythmia); and LDLR (high cholesterol). CONCLUSIONS: The incorporation of genetics into the EHR for clinical decision support is a complex undertaking for many reasons including lack of prior consent for return of results, lack of biospecimens collected in a CLIA environment, and EHR integration. Our study design accounts for these hurdles and is an example of a pilot system that can be utilized before expanding to an entire health system. More... »

PAGES

67

Identifiers

URI

http://scigraph.springernature.com/pub.10.1186/s13073-015-0181-z

DOI

http://dx.doi.org/10.1186/s13073-015-0181-z

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1029318944

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/26221186


Indexing Status Check whether this publication has been indexed by Scopus and Web Of Science using the SN Indexing Status Tool
Incoming Citations Browse incoming citations for this publication using opencitations.net

JSON-LD is the canonical representation for SciGraph data.

TIP: You can open this SciGraph record using an external JSON-LD service: JSON-LD Playground Google SDTT

[
  {
    "@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json", 
    "about": [
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/0604", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Genetics", 
        "type": "DefinedTerm"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/06", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Biological Sciences", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "University of Washington", 
          "id": "https://www.grid.ac/institutes/grid.34477.33", 
          "name": [
            "Department of Medicine, Division of Medical Genetics, University of Washington, 1705 NE Pacific Street, 98195, Seattle, WA, USA", 
            "Department of Genome Sciences, University of Washington, 3720 15th Avenue NE, 98195, Seattle, WA, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Crosslin", 
        "givenName": "David R.", 
        "id": "sg:person.01035532711.47", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01035532711.47"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Washington", 
          "id": "https://www.grid.ac/institutes/grid.34477.33", 
          "name": [
            "Department of Genome Sciences, University of Washington, 3720 15th Avenue NE, 98195, Seattle, WA, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Robertson", 
        "givenName": "Peggy D.", 
        "id": "sg:person.01245345141.74", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01245345141.74"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Group Health Cooperative", 
          "id": "https://www.grid.ac/institutes/grid.280243.f", 
          "name": [
            "Group Health Research Institute, Group Health Cooperative, 1730 Minor Avenue, 98101, Seattle, WA, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Carrell", 
        "givenName": "David S.", 
        "id": "sg:person.0662073750.28", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0662073750.28"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Washington", 
          "id": "https://www.grid.ac/institutes/grid.34477.33", 
          "name": [
            "Department of Genome Sciences, University of Washington, 3720 15th Avenue NE, 98195, Seattle, WA, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Gordon", 
        "givenName": "Adam S.", 
        "id": "sg:person.01312412024.18", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01312412024.18"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Washington", 
          "id": "https://www.grid.ac/institutes/grid.34477.33", 
          "name": [
            "Department of Pathology, University of Washington, 1959 NE Pacific Street, 98195, Seattle, WA, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Hanna", 
        "givenName": "David S.", 
        "id": "sg:person.01262177675.90", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01262177675.90"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Washington", 
          "id": "https://www.grid.ac/institutes/grid.34477.33", 
          "name": [
            "Department of Medicine, Division of Medical Genetics, University of Washington, 1705 NE Pacific Street, 98195, Seattle, WA, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Burt", 
        "givenName": "Amber", 
        "id": "sg:person.01231762344.84", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01231762344.84"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Washington", 
          "id": "https://www.grid.ac/institutes/grid.34477.33", 
          "name": [
            "Department of Bioethics and Humanities, University of Washington, 1959 NE Pacific Street, 98195, Seattle, WA, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Fullerton", 
        "givenName": "Stephanie M.", 
        "id": "sg:person.01072745543.85", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01072745543.85"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Group Health Cooperative", 
          "id": "https://www.grid.ac/institutes/grid.280243.f", 
          "name": [
            "Group Health Research Institute, Group Health Cooperative, 1730 Minor Avenue, 98101, Seattle, WA, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Scrol", 
        "givenName": "Aaron", 
        "id": "sg:person.01242743115.61", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01242743115.61"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Washington", 
          "id": "https://www.grid.ac/institutes/grid.34477.33", 
          "name": [
            "Department of Pathology, University of Washington, 1959 NE Pacific Street, 98195, Seattle, WA, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Ralston", 
        "givenName": "James", 
        "id": "sg:person.0660666225.12", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0660666225.12"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Washington", 
          "id": "https://www.grid.ac/institutes/grid.34477.33", 
          "name": [
            "Department of Pathology, University of Washington, 1959 NE Pacific Street, 98195, Seattle, WA, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Leppig", 
        "givenName": "Kathleen", 
        "id": "sg:person.0773075327.10", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0773075327.10"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Washington", 
          "id": "https://www.grid.ac/institutes/grid.34477.33", 
          "name": [
            "Department of Pathology, University of Washington, 1959 NE Pacific Street, 98195, Seattle, WA, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Hartzler", 
        "givenName": "Andrea", 
        "id": "sg:person.01352426166.77", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01352426166.77"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Washington", 
          "id": "https://www.grid.ac/institutes/grid.34477.33", 
          "name": [
            "Department of Pathology, University of Washington, 1959 NE Pacific Street, 98195, Seattle, WA, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Baldwin", 
        "givenName": "Eric", 
        "id": "sg:person.01310017430.78", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01310017430.78"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Mayo Clinic", 
          "id": "https://www.grid.ac/institutes/grid.66875.3a", 
          "name": [
            "Division of Biomedical Statistics and Informatics, Mayo Clinic, 200 First Street SW, 55905, Rochester, MN, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Andrade", 
        "givenName": "Mariza de", 
        "id": "sg:person.01350776501.81", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01350776501.81"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Mayo Clinic", 
          "id": "https://www.grid.ac/institutes/grid.66875.3a", 
          "name": [
            "Division of Cardiovascular Diseases, Mayo Clinic, 200 First Street SW, 55905, Rochester, MN, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Kullo", 
        "givenName": "Iftikhar J.", 
        "id": "sg:person.010511142517.49", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010511142517.49"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Geisinger Health System", 
          "id": "https://www.grid.ac/institutes/grid.280776.c", 
          "name": [
            "The Sigfried and Janet Weis Center for Research, Geisinger Health System, 100 North Academy Avenue, 17882, Danville, PA, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Tromp", 
        "givenName": "Gerard", 
        "id": "sg:person.07675140577.42", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.07675140577.42"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Johns Hopkins University", 
          "id": "https://www.grid.ac/institutes/grid.21107.35", 
          "name": [
            "Center for Inherited Disease Research, Johns Hopkins University School of Medicine, 333 Cassell Drive, 21224, Baltimore, MD, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Doheny", 
        "givenName": "Kimberly F.", 
        "id": "sg:person.012622674734.73", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012622674734.73"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Geisinger Health System", 
          "id": "https://www.grid.ac/institutes/grid.280776.c", 
          "name": [
            "Center for Systems Genomics, Department of Biochemistry and Molecular Biology, Pennsylvania State University, 512A Wartik Laboratory, 16802, University Park, PA, USA", 
            "Biomedical and Translational Informatics, Geisinger Health System, 100 North Academy Avenue, 17882, Danville, PA, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Ritchie", 
        "givenName": "Marylyn D.", 
        "id": "sg:person.01101077522.37", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01101077522.37"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Washington", 
          "id": "https://www.grid.ac/institutes/grid.34477.33", 
          "name": [
            "Division of General Internal Medicine, University of Washington, 325 Ninth Avenue, 981014, Seattle, WA, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Crane", 
        "givenName": "Paul K.", 
        "id": "sg:person.01061070452.44", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01061070452.44"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Washington", 
          "id": "https://www.grid.ac/institutes/grid.34477.33", 
          "name": [
            "Department of Genome Sciences, University of Washington, 3720 15th Avenue NE, 98195, Seattle, WA, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Nickerson", 
        "givenName": "Deborah A.", 
        "id": "sg:person.011702707617.34", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011702707617.34"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Group Health Cooperative", 
          "id": "https://www.grid.ac/institutes/grid.280243.f", 
          "name": [
            "Group Health Research Institute, Group Health Cooperative, 1730 Minor Avenue, 98101, Seattle, WA, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Larson", 
        "givenName": "Eric B.", 
        "id": "sg:person.0740630142.67", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0740630142.67"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Washington", 
          "id": "https://www.grid.ac/institutes/grid.34477.33", 
          "name": [
            "Department of Medicine, Division of Medical Genetics, University of Washington, 1705 NE Pacific Street, 98195, Seattle, WA, USA", 
            "Department of Genome Sciences, University of Washington, 3720 15th Avenue NE, 98195, Seattle, WA, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Jarvik", 
        "givenName": "Gail P.", 
        "id": "sg:person.01201446563.23", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01201446563.23"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "sg:pub.10.1038/gim.2013.72", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1004067082", 
          "https://doi.org/10.1038/gim.2013.72"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/1755-8794-4-13", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1009602613", 
          "https://doi.org/10.1186/1755-8794-4-13"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/nar/gkt1113", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1009629440"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng.806", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1010244476", 
          "https://doi.org/10.1038/ng.806"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1101/gr.3577405", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1014343625"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/gm13", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1014981379", 
          "https://doi.org/10.1186/gm13"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.2165/00003088-197601050-00002", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1022080770", 
          "https://doi.org/10.2165/00003088-197601050-00002"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.2165/00003088-197601050-00002", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1022080770", 
          "https://doi.org/10.2165/00003088-197601050-00002"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/clpt.2010.279", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1022207002", 
          "https://doi.org/10.1038/clpt.2010.279"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1101/gr.107524.110", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1032096953"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/clpt.2014.137", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1035688869", 
          "https://doi.org/10.1038/clpt.2014.137"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/0471250953.bi1110s43", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1036411997"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.c.31395", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1037713650"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/clpt.2012.96", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1042146639", 
          "https://doi.org/10.1038/clpt.2012.96"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.4161/fly.19695", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1046734556"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/0471142700.nca01cs00", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1048850237"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng.2892", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1050728268", 
          "https://doi.org/10.1038/ng.2892"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.2174/1389200215666140130124910", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1069176333"
        ], 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2015-12", 
    "datePublishedReg": "2015-12-01", 
    "description": "BACKGROUND: In an effort to return actionable results from variant data to electronic health records (EHRs), participants in the Electronic Medical Records and Genomics (eMERGE) Network are being sequenced with the targeted Pharmacogenomics Research Network sequence platform (PGRNseq). This cost-effective, highly-scalable, and highly-accurate platform was created to explore rare variation in 84 key pharmacogenetic genes with strong drug phenotype associations.\nMETHODS: To return Clinical Laboratory Improvement Amendments (CLIA) results to our participants at the Group Health Cooperative, we sequenced the DNA of 900 participants (61 % female) with non-CLIA biobanked samples. We then selected 450 of those to be re-consented, to redraw blood, and ultimately to validate CLIA variants in anticipation of returning the results to the participant and EHR. These 450 were selected using an algorithm we designed to harness data from self-reported race, diagnosis and procedure codes, medical notes, laboratory results, and variant-level bioinformatics to ensure selection of an informative sample. We annotated the multi-sample variant call format by a combination of SeattleSeq and SnpEff tools, with additional custom variables including evidence from ClinVar, OMIM, HGMD, and prior clinical associations.\nRESULTS: We focused our analyses on 27 actionable genes, largely driven by the Clinical Pharmacogenetics Implementation Consortium. We derived a ranking system based on the total number of coding variants per participant (75.2\u00b114.7), and the number of coding variants with high or moderate impact (11.5\u00b13.9). Notably, we identified 11 stop-gained (1 %) and 519 missense (20 %) variants out of a total of 1785 in these 27 genes. Finally, we prioritized variants to be returned to the EHR with prior clinical evidence of pathogenicity or annotated as stop-gain for the following genes: CACNA1S and RYR1 (malignant hyperthermia); SCN5A, KCNH2, and RYR2 (arrhythmia); and LDLR (high cholesterol).\nCONCLUSIONS: The incorporation of genetics into the EHR for clinical decision support is a complex undertaking for many reasons including lack of prior consent for return of results, lack of biospecimens collected in a CLIA environment, and EHR integration. Our study design accounts for these hurdles and is an example of a pilot system that can be utilized before expanding to an entire health system.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1186/s13073-015-0181-z", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": true, 
    "isFundedItemOf": [
      {
        "id": "sg:grant.2691297", 
        "type": "MonetaryGrant"
      }, 
      {
        "id": "sg:grant.2691295", 
        "type": "MonetaryGrant"
      }, 
      {
        "id": "sg:grant.2691302", 
        "type": "MonetaryGrant"
      }, 
      {
        "id": "sg:grant.2691299", 
        "type": "MonetaryGrant"
      }, 
      {
        "id": "sg:grant.2691251", 
        "type": "MonetaryGrant"
      }, 
      {
        "id": "sg:grant.4244658", 
        "type": "MonetaryGrant"
      }
    ], 
    "isPartOf": [
      {
        "id": "sg:journal.1040124", 
        "issn": [
          "1756-994X"
        ], 
        "name": "Genome Medicine", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "1", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "7"
      }
    ], 
    "name": "Prospective participant selection and ranking to maximize actionable pharmacogenetic variants and discovery in the eMERGE Network", 
    "pagination": "67", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "8babb6835aa428930dd977839f58e480551501ddb0aea29315d31459572f92c2"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "26221186"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "101475844"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1186/s13073-015-0181-z"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1029318944"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1186/s13073-015-0181-z", 
      "https://app.dimensions.ai/details/publication/pub.1029318944"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-11T13:10", 
    "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
    "sdPublisher": {
      "name": "Springer Nature - SN SciGraph project", 
      "type": "Organization"
    }, 
    "sdSource": "s3://com-uberresearch-data-dimensions-target-20181106-alternative/cleanup/v134/2549eaecd7973599484d7c17b260dba0a4ecb94b/merge/v9/a6c9fde33151104705d4d7ff012ea9563521a3ce/jats-lookup/v90/0000000367_0000000367/records_88248_00000000.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "http://link.springer.com/10.1186%2Fs13073-015-0181-z"
  }
]
 

Download the RDF metadata as:  json-ld nt turtle xml License info

HOW TO GET THIS DATA PROGRAMMATICALLY:

JSON-LD is a popular format for linked data which is fully compatible with JSON.

curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1186/s13073-015-0181-z'

N-Triples is a line-based linked data format ideal for batch operations.

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1186/s13073-015-0181-z'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1186/s13073-015-0181-z'

RDF/XML is a standard XML format for linked data.

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1186/s13073-015-0181-z'


 

This table displays all metadata directly associated to this object as RDF triples.

299 TRIPLES      21 PREDICATES      46 URIs      21 LITERALS      9 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1186/s13073-015-0181-z schema:about anzsrc-for:06
2 anzsrc-for:0604
3 schema:author N3c4fc579ff4e43e983c716589b544ad1
4 schema:citation sg:pub.10.1038/clpt.2010.279
5 sg:pub.10.1038/clpt.2012.96
6 sg:pub.10.1038/clpt.2014.137
7 sg:pub.10.1038/gim.2013.72
8 sg:pub.10.1038/ng.2892
9 sg:pub.10.1038/ng.806
10 sg:pub.10.1186/1755-8794-4-13
11 sg:pub.10.1186/gm13
12 sg:pub.10.2165/00003088-197601050-00002
13 https://doi.org/10.1002/0471142700.nca01cs00
14 https://doi.org/10.1002/0471250953.bi1110s43
15 https://doi.org/10.1002/ajmg.c.31395
16 https://doi.org/10.1093/nar/gkt1113
17 https://doi.org/10.1101/gr.107524.110
18 https://doi.org/10.1101/gr.3577405
19 https://doi.org/10.2174/1389200215666140130124910
20 https://doi.org/10.4161/fly.19695
21 schema:datePublished 2015-12
22 schema:datePublishedReg 2015-12-01
23 schema:description BACKGROUND: In an effort to return actionable results from variant data to electronic health records (EHRs), participants in the Electronic Medical Records and Genomics (eMERGE) Network are being sequenced with the targeted Pharmacogenomics Research Network sequence platform (PGRNseq). This cost-effective, highly-scalable, and highly-accurate platform was created to explore rare variation in 84 key pharmacogenetic genes with strong drug phenotype associations. METHODS: To return Clinical Laboratory Improvement Amendments (CLIA) results to our participants at the Group Health Cooperative, we sequenced the DNA of 900 participants (61 % female) with non-CLIA biobanked samples. We then selected 450 of those to be re-consented, to redraw blood, and ultimately to validate CLIA variants in anticipation of returning the results to the participant and EHR. These 450 were selected using an algorithm we designed to harness data from self-reported race, diagnosis and procedure codes, medical notes, laboratory results, and variant-level bioinformatics to ensure selection of an informative sample. We annotated the multi-sample variant call format by a combination of SeattleSeq and SnpEff tools, with additional custom variables including evidence from ClinVar, OMIM, HGMD, and prior clinical associations. RESULTS: We focused our analyses on 27 actionable genes, largely driven by the Clinical Pharmacogenetics Implementation Consortium. We derived a ranking system based on the total number of coding variants per participant (75.2±14.7), and the number of coding variants with high or moderate impact (11.5±3.9). Notably, we identified 11 stop-gained (1 %) and 519 missense (20 %) variants out of a total of 1785 in these 27 genes. Finally, we prioritized variants to be returned to the EHR with prior clinical evidence of pathogenicity or annotated as stop-gain for the following genes: CACNA1S and RYR1 (malignant hyperthermia); SCN5A, KCNH2, and RYR2 (arrhythmia); and LDLR (high cholesterol). CONCLUSIONS: The incorporation of genetics into the EHR for clinical decision support is a complex undertaking for many reasons including lack of prior consent for return of results, lack of biospecimens collected in a CLIA environment, and EHR integration. Our study design accounts for these hurdles and is an example of a pilot system that can be utilized before expanding to an entire health system.
24 schema:genre research_article
25 schema:inLanguage en
26 schema:isAccessibleForFree true
27 schema:isPartOf N5f38a3e57d8847cb9e241240cc69fd7c
28 Ne2f2dbca92b0407a97c072e0c19e9dd2
29 sg:journal.1040124
30 schema:name Prospective participant selection and ranking to maximize actionable pharmacogenetic variants and discovery in the eMERGE Network
31 schema:pagination 67
32 schema:productId N0e320d935781455b9fa654daf528245e
33 N2c5701e9902c42d293c0e3fb2cea0e24
34 N311668ce4d224e80b0ed6df1cd8e8ce7
35 N7e607b064bf945ee97e078c1be91d173
36 N82f75bb6f6e9432c8d6ce956717a3cc5
37 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029318944
38 https://doi.org/10.1186/s13073-015-0181-z
39 schema:sdDatePublished 2019-04-11T13:10
40 schema:sdLicense https://scigraph.springernature.com/explorer/license/
41 schema:sdPublisher N2c98706ca06e4f789296c686c122e93c
42 schema:url http://link.springer.com/10.1186%2Fs13073-015-0181-z
43 sgo:license sg:explorer/license/
44 sgo:sdDataset articles
45 rdf:type schema:ScholarlyArticle
46 N03ad1cbc0c434476ab38377e3e59c6bd rdf:first sg:person.01061070452.44
47 rdf:rest N1c9ef9d11b9c4f5ab9a7217284e9dfed
48 N09730ae00eeb484c9f2510a4081c7c09 rdf:first sg:person.0740630142.67
49 rdf:rest N0c3b1d50ca03467fa83f0c2cc2a58e83
50 N0c3b1d50ca03467fa83f0c2cc2a58e83 rdf:first sg:person.01201446563.23
51 rdf:rest rdf:nil
52 N0e320d935781455b9fa654daf528245e schema:name doi
53 schema:value 10.1186/s13073-015-0181-z
54 rdf:type schema:PropertyValue
55 N11c65e511ffa455e89b2415bb25b3d2c rdf:first sg:person.01312412024.18
56 rdf:rest Ndf2912efa4304db0957a104a84efada4
57 N1c2665af3d4c40ce895420a6ebd56e17 rdf:first sg:person.07675140577.42
58 rdf:rest N864db31c49374e27a82781e20796b629
59 N1c9ef9d11b9c4f5ab9a7217284e9dfed rdf:first sg:person.011702707617.34
60 rdf:rest N09730ae00eeb484c9f2510a4081c7c09
61 N2c5701e9902c42d293c0e3fb2cea0e24 schema:name nlm_unique_id
62 schema:value 101475844
63 rdf:type schema:PropertyValue
64 N2c98706ca06e4f789296c686c122e93c schema:name Springer Nature - SN SciGraph project
65 rdf:type schema:Organization
66 N311668ce4d224e80b0ed6df1cd8e8ce7 schema:name readcube_id
67 schema:value 8babb6835aa428930dd977839f58e480551501ddb0aea29315d31459572f92c2
68 rdf:type schema:PropertyValue
69 N3c4fc579ff4e43e983c716589b544ad1 rdf:first sg:person.01035532711.47
70 rdf:rest N575f8b2790194f9abe2513c742e5fe0c
71 N3e73882b1bd44c5397fc54c94a481d47 rdf:first sg:person.010511142517.49
72 rdf:rest N1c2665af3d4c40ce895420a6ebd56e17
73 N47a55b3cf4ef46188ad6134fb43f0340 rdf:first sg:person.0660666225.12
74 rdf:rest N90af1f10700a44a1b00b6756aae86360
75 N567abbd2eac64814858cfb1d9feeda00 rdf:first sg:person.01242743115.61
76 rdf:rest N47a55b3cf4ef46188ad6134fb43f0340
77 N575f8b2790194f9abe2513c742e5fe0c rdf:first sg:person.01245345141.74
78 rdf:rest Nbb932df882894b85825432de69c975b5
79 N5f38a3e57d8847cb9e241240cc69fd7c schema:volumeNumber 7
80 rdf:type schema:PublicationVolume
81 N7e607b064bf945ee97e078c1be91d173 schema:name dimensions_id
82 schema:value pub.1029318944
83 rdf:type schema:PropertyValue
84 N7f4018b051c9437fb21dae8300fed7ed rdf:first sg:person.01231762344.84
85 rdf:rest Ne791263e5d6141509c7af1d0f88bceee
86 N805e82ccd358406187dcd0e9d66e1a3c rdf:first sg:person.01350776501.81
87 rdf:rest N3e73882b1bd44c5397fc54c94a481d47
88 N82f75bb6f6e9432c8d6ce956717a3cc5 schema:name pubmed_id
89 schema:value 26221186
90 rdf:type schema:PropertyValue
91 N864db31c49374e27a82781e20796b629 rdf:first sg:person.012622674734.73
92 rdf:rest Nbb75bcee698040d98a6304ddb644e5c7
93 N90af1f10700a44a1b00b6756aae86360 rdf:first sg:person.0773075327.10
94 rdf:rest N92f07a4446b24a96a3992344eb726154
95 N92f07a4446b24a96a3992344eb726154 rdf:first sg:person.01352426166.77
96 rdf:rest Ne81e7ccb3d4748498a885057c3fb7fc0
97 Nbb75bcee698040d98a6304ddb644e5c7 rdf:first sg:person.01101077522.37
98 rdf:rest N03ad1cbc0c434476ab38377e3e59c6bd
99 Nbb932df882894b85825432de69c975b5 rdf:first sg:person.0662073750.28
100 rdf:rest N11c65e511ffa455e89b2415bb25b3d2c
101 Ndf2912efa4304db0957a104a84efada4 rdf:first sg:person.01262177675.90
102 rdf:rest N7f4018b051c9437fb21dae8300fed7ed
103 Ne2f2dbca92b0407a97c072e0c19e9dd2 schema:issueNumber 1
104 rdf:type schema:PublicationIssue
105 Ne791263e5d6141509c7af1d0f88bceee rdf:first sg:person.01072745543.85
106 rdf:rest N567abbd2eac64814858cfb1d9feeda00
107 Ne81e7ccb3d4748498a885057c3fb7fc0 rdf:first sg:person.01310017430.78
108 rdf:rest N805e82ccd358406187dcd0e9d66e1a3c
109 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
110 schema:name Biological Sciences
111 rdf:type schema:DefinedTerm
112 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
113 schema:name Genetics
114 rdf:type schema:DefinedTerm
115 sg:grant.2691251 http://pending.schema.org/fundedItem sg:pub.10.1186/s13073-015-0181-z
116 rdf:type schema:MonetaryGrant
117 sg:grant.2691295 http://pending.schema.org/fundedItem sg:pub.10.1186/s13073-015-0181-z
118 rdf:type schema:MonetaryGrant
119 sg:grant.2691297 http://pending.schema.org/fundedItem sg:pub.10.1186/s13073-015-0181-z
120 rdf:type schema:MonetaryGrant
121 sg:grant.2691299 http://pending.schema.org/fundedItem sg:pub.10.1186/s13073-015-0181-z
122 rdf:type schema:MonetaryGrant
123 sg:grant.2691302 http://pending.schema.org/fundedItem sg:pub.10.1186/s13073-015-0181-z
124 rdf:type schema:MonetaryGrant
125 sg:grant.4244658 http://pending.schema.org/fundedItem sg:pub.10.1186/s13073-015-0181-z
126 rdf:type schema:MonetaryGrant
127 sg:journal.1040124 schema:issn 1756-994X
128 schema:name Genome Medicine
129 rdf:type schema:Periodical
130 sg:person.01035532711.47 schema:affiliation https://www.grid.ac/institutes/grid.34477.33
131 schema:familyName Crosslin
132 schema:givenName David R.
133 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01035532711.47
134 rdf:type schema:Person
135 sg:person.010511142517.49 schema:affiliation https://www.grid.ac/institutes/grid.66875.3a
136 schema:familyName Kullo
137 schema:givenName Iftikhar J.
138 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010511142517.49
139 rdf:type schema:Person
140 sg:person.01061070452.44 schema:affiliation https://www.grid.ac/institutes/grid.34477.33
141 schema:familyName Crane
142 schema:givenName Paul K.
143 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01061070452.44
144 rdf:type schema:Person
145 sg:person.01072745543.85 schema:affiliation https://www.grid.ac/institutes/grid.34477.33
146 schema:familyName Fullerton
147 schema:givenName Stephanie M.
148 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01072745543.85
149 rdf:type schema:Person
150 sg:person.01101077522.37 schema:affiliation https://www.grid.ac/institutes/grid.280776.c
151 schema:familyName Ritchie
152 schema:givenName Marylyn D.
153 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01101077522.37
154 rdf:type schema:Person
155 sg:person.011702707617.34 schema:affiliation https://www.grid.ac/institutes/grid.34477.33
156 schema:familyName Nickerson
157 schema:givenName Deborah A.
158 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011702707617.34
159 rdf:type schema:Person
160 sg:person.01201446563.23 schema:affiliation https://www.grid.ac/institutes/grid.34477.33
161 schema:familyName Jarvik
162 schema:givenName Gail P.
163 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01201446563.23
164 rdf:type schema:Person
165 sg:person.01231762344.84 schema:affiliation https://www.grid.ac/institutes/grid.34477.33
166 schema:familyName Burt
167 schema:givenName Amber
168 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01231762344.84
169 rdf:type schema:Person
170 sg:person.01242743115.61 schema:affiliation https://www.grid.ac/institutes/grid.280243.f
171 schema:familyName Scrol
172 schema:givenName Aaron
173 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01242743115.61
174 rdf:type schema:Person
175 sg:person.01245345141.74 schema:affiliation https://www.grid.ac/institutes/grid.34477.33
176 schema:familyName Robertson
177 schema:givenName Peggy D.
178 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01245345141.74
179 rdf:type schema:Person
180 sg:person.01262177675.90 schema:affiliation https://www.grid.ac/institutes/grid.34477.33
181 schema:familyName Hanna
182 schema:givenName David S.
183 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01262177675.90
184 rdf:type schema:Person
185 sg:person.012622674734.73 schema:affiliation https://www.grid.ac/institutes/grid.21107.35
186 schema:familyName Doheny
187 schema:givenName Kimberly F.
188 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012622674734.73
189 rdf:type schema:Person
190 sg:person.01310017430.78 schema:affiliation https://www.grid.ac/institutes/grid.34477.33
191 schema:familyName Baldwin
192 schema:givenName Eric
193 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01310017430.78
194 rdf:type schema:Person
195 sg:person.01312412024.18 schema:affiliation https://www.grid.ac/institutes/grid.34477.33
196 schema:familyName Gordon
197 schema:givenName Adam S.
198 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01312412024.18
199 rdf:type schema:Person
200 sg:person.01350776501.81 schema:affiliation https://www.grid.ac/institutes/grid.66875.3a
201 schema:familyName Andrade
202 schema:givenName Mariza de
203 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01350776501.81
204 rdf:type schema:Person
205 sg:person.01352426166.77 schema:affiliation https://www.grid.ac/institutes/grid.34477.33
206 schema:familyName Hartzler
207 schema:givenName Andrea
208 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01352426166.77
209 rdf:type schema:Person
210 sg:person.0660666225.12 schema:affiliation https://www.grid.ac/institutes/grid.34477.33
211 schema:familyName Ralston
212 schema:givenName James
213 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0660666225.12
214 rdf:type schema:Person
215 sg:person.0662073750.28 schema:affiliation https://www.grid.ac/institutes/grid.280243.f
216 schema:familyName Carrell
217 schema:givenName David S.
218 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0662073750.28
219 rdf:type schema:Person
220 sg:person.0740630142.67 schema:affiliation https://www.grid.ac/institutes/grid.280243.f
221 schema:familyName Larson
222 schema:givenName Eric B.
223 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0740630142.67
224 rdf:type schema:Person
225 sg:person.07675140577.42 schema:affiliation https://www.grid.ac/institutes/grid.280776.c
226 schema:familyName Tromp
227 schema:givenName Gerard
228 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.07675140577.42
229 rdf:type schema:Person
230 sg:person.0773075327.10 schema:affiliation https://www.grid.ac/institutes/grid.34477.33
231 schema:familyName Leppig
232 schema:givenName Kathleen
233 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0773075327.10
234 rdf:type schema:Person
235 sg:pub.10.1038/clpt.2010.279 schema:sameAs https://app.dimensions.ai/details/publication/pub.1022207002
236 https://doi.org/10.1038/clpt.2010.279
237 rdf:type schema:CreativeWork
238 sg:pub.10.1038/clpt.2012.96 schema:sameAs https://app.dimensions.ai/details/publication/pub.1042146639
239 https://doi.org/10.1038/clpt.2012.96
240 rdf:type schema:CreativeWork
241 sg:pub.10.1038/clpt.2014.137 schema:sameAs https://app.dimensions.ai/details/publication/pub.1035688869
242 https://doi.org/10.1038/clpt.2014.137
243 rdf:type schema:CreativeWork
244 sg:pub.10.1038/gim.2013.72 schema:sameAs https://app.dimensions.ai/details/publication/pub.1004067082
245 https://doi.org/10.1038/gim.2013.72
246 rdf:type schema:CreativeWork
247 sg:pub.10.1038/ng.2892 schema:sameAs https://app.dimensions.ai/details/publication/pub.1050728268
248 https://doi.org/10.1038/ng.2892
249 rdf:type schema:CreativeWork
250 sg:pub.10.1038/ng.806 schema:sameAs https://app.dimensions.ai/details/publication/pub.1010244476
251 https://doi.org/10.1038/ng.806
252 rdf:type schema:CreativeWork
253 sg:pub.10.1186/1755-8794-4-13 schema:sameAs https://app.dimensions.ai/details/publication/pub.1009602613
254 https://doi.org/10.1186/1755-8794-4-13
255 rdf:type schema:CreativeWork
256 sg:pub.10.1186/gm13 schema:sameAs https://app.dimensions.ai/details/publication/pub.1014981379
257 https://doi.org/10.1186/gm13
258 rdf:type schema:CreativeWork
259 sg:pub.10.2165/00003088-197601050-00002 schema:sameAs https://app.dimensions.ai/details/publication/pub.1022080770
260 https://doi.org/10.2165/00003088-197601050-00002
261 rdf:type schema:CreativeWork
262 https://doi.org/10.1002/0471142700.nca01cs00 schema:sameAs https://app.dimensions.ai/details/publication/pub.1048850237
263 rdf:type schema:CreativeWork
264 https://doi.org/10.1002/0471250953.bi1110s43 schema:sameAs https://app.dimensions.ai/details/publication/pub.1036411997
265 rdf:type schema:CreativeWork
266 https://doi.org/10.1002/ajmg.c.31395 schema:sameAs https://app.dimensions.ai/details/publication/pub.1037713650
267 rdf:type schema:CreativeWork
268 https://doi.org/10.1093/nar/gkt1113 schema:sameAs https://app.dimensions.ai/details/publication/pub.1009629440
269 rdf:type schema:CreativeWork
270 https://doi.org/10.1101/gr.107524.110 schema:sameAs https://app.dimensions.ai/details/publication/pub.1032096953
271 rdf:type schema:CreativeWork
272 https://doi.org/10.1101/gr.3577405 schema:sameAs https://app.dimensions.ai/details/publication/pub.1014343625
273 rdf:type schema:CreativeWork
274 https://doi.org/10.2174/1389200215666140130124910 schema:sameAs https://app.dimensions.ai/details/publication/pub.1069176333
275 rdf:type schema:CreativeWork
276 https://doi.org/10.4161/fly.19695 schema:sameAs https://app.dimensions.ai/details/publication/pub.1046734556
277 rdf:type schema:CreativeWork
278 https://www.grid.ac/institutes/grid.21107.35 schema:alternateName Johns Hopkins University
279 schema:name Center for Inherited Disease Research, Johns Hopkins University School of Medicine, 333 Cassell Drive, 21224, Baltimore, MD, USA
280 rdf:type schema:Organization
281 https://www.grid.ac/institutes/grid.280243.f schema:alternateName Group Health Cooperative
282 schema:name Group Health Research Institute, Group Health Cooperative, 1730 Minor Avenue, 98101, Seattle, WA, USA
283 rdf:type schema:Organization
284 https://www.grid.ac/institutes/grid.280776.c schema:alternateName Geisinger Health System
285 schema:name Biomedical and Translational Informatics, Geisinger Health System, 100 North Academy Avenue, 17882, Danville, PA, USA
286 Center for Systems Genomics, Department of Biochemistry and Molecular Biology, Pennsylvania State University, 512A Wartik Laboratory, 16802, University Park, PA, USA
287 The Sigfried and Janet Weis Center for Research, Geisinger Health System, 100 North Academy Avenue, 17882, Danville, PA, USA
288 rdf:type schema:Organization
289 https://www.grid.ac/institutes/grid.34477.33 schema:alternateName University of Washington
290 schema:name Department of Bioethics and Humanities, University of Washington, 1959 NE Pacific Street, 98195, Seattle, WA, USA
291 Department of Genome Sciences, University of Washington, 3720 15th Avenue NE, 98195, Seattle, WA, USA
292 Department of Medicine, Division of Medical Genetics, University of Washington, 1705 NE Pacific Street, 98195, Seattle, WA, USA
293 Department of Pathology, University of Washington, 1959 NE Pacific Street, 98195, Seattle, WA, USA
294 Division of General Internal Medicine, University of Washington, 325 Ninth Avenue, 981014, Seattle, WA, USA
295 rdf:type schema:Organization
296 https://www.grid.ac/institutes/grid.66875.3a schema:alternateName Mayo Clinic
297 schema:name Division of Biomedical Statistics and Informatics, Mayo Clinic, 200 First Street SW, 55905, Rochester, MN, USA
298 Division of Cardiovascular Diseases, Mayo Clinic, 200 First Street SW, 55905, Rochester, MN, USA
299 rdf:type schema:Organization
 




Preview window. Press ESC to close (or click here)


...