{"id":"https://openalex.org/W4366551404","doi":"https://doi.org/10.1093/jamia/ocad061","title":"Creation of a structured molecular genomics report for Germany as a local adaption of HL7\u2019s Genomic Reporting Implementation Guide","display_name":"Creation of a structured molecular genomics report for Germany as a local adaption of HL7\u2019s Genomic Reporting Implementation Guide","publication_year":2023,"publication_date":"2023-04-20","ids":{"openalex":"https://openalex.org/W4366551404","doi":"https://doi.org/10.1093/jamia/ocad061","pmid":"https://pubmed.ncbi.nlm.nih.gov/37080557"},"language":"en","primary_location":{"id":"doi:10.1093/jamia/ocad061","is_oa":true,"landing_page_url":"https://doi.org/10.1093/jamia/ocad061","pdf_url":"https://academic.oup.com/jamia/advance-article-pdf/doi/10.1093/jamia/ocad061/50050994/ocad061.pdf","source":{"id":"https://openalex.org/S129839026","display_name":"Journal of the American Medical Informatics Association","issn_l":"1067-5027","issn":["1067-5027","1527-974X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of the American Medical Informatics Association","raw_type":"journal-article"},"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://academic.oup.com/jamia/advance-article-pdf/doi/10.1093/jamia/ocad061/50050994/ocad061.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5042996842","display_name":"Caroline Stellmach","orcid":"https://orcid.org/0000-0001-6798-8533"},"institutions":[{"id":"https://openalex.org/I4210139777","display_name":"Berlin Institute of Health at Charit\u00e9 - Universit\u00e4tsmedizin Berlin","ror":"https://ror.org/0493xsw21","country_code":"DE","type":"facility","lineage":["https://openalex.org/I4210139777","https://openalex.org/I7877124"]}],"countries":["DE"],"is_corresponding":true,"raw_author_name":"Caroline Stellmach","raw_affiliation_strings":["Core Facility Digital Medicine and Interoperability, Berlin Institute of Health (BIH) at Charit\u00e9 - Universit\u00e4tsmedizin Berlin , Berlin, Germany"],"raw_orcid":"https://orcid.org/0000-0001-6798-8533","affiliations":[{"raw_affiliation_string":"Core Facility Digital Medicine and Interoperability, Berlin Institute of Health (BIH) at Charit\u00e9 - Universit\u00e4tsmedizin Berlin , Berlin, Germany","institution_ids":["https://openalex.org/I4210139777"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5029283368","display_name":"Julian Sa\u00df","orcid":"https://orcid.org/0000-0002-2068-7765"},"institutions":[{"id":"https://openalex.org/I4210139777","display_name":"Berlin Institute of Health at Charit\u00e9 - Universit\u00e4tsmedizin Berlin","ror":"https://ror.org/0493xsw21","country_code":"DE","type":"facility","lineage":["https://openalex.org/I4210139777","https://openalex.org/I7877124"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Julian Sass","raw_affiliation_strings":["Core Facility Digital Medicine and Interoperability, Berlin Institute of Health (BIH) at Charit\u00e9 - Universit\u00e4tsmedizin Berlin , Berlin, Germany"],"raw_orcid":"https://orcid.org/0000-0002-2068-7765","affiliations":[{"raw_affiliation_string":"Core Facility Digital Medicine and Interoperability, Berlin Institute of Health (BIH) at Charit\u00e9 - Universit\u00e4tsmedizin Berlin , Berlin, Germany","institution_ids":["https://openalex.org/I4210139777"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5030896666","display_name":"Bernd Auber","orcid":"https://orcid.org/0000-0003-1880-291X"},"institutions":[{"id":"https://openalex.org/I34809795","display_name":"Medizinische Hochschule Hannover","ror":"https://ror.org/00f2yqf98","country_code":"DE","type":"education","lineage":["https://openalex.org/I34809795"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Bernd Auber","raw_affiliation_strings":["Department of Human Genetics, Hannover Medical School , Hannover, Germany"],"raw_orcid":"https://orcid.org/0000-0003-1880-291X","affiliations":[{"raw_affiliation_string":"Department of Human Genetics, Hannover Medical School , Hannover, Germany","institution_ids":["https://openalex.org/I34809795"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5039035898","display_name":"Martin Boeker","orcid":"https://orcid.org/0000-0003-2972-2042"},"institutions":[{"id":"https://openalex.org/I62916508","display_name":"Technical University of Munich","ror":"https://ror.org/02kkvpp62","country_code":"DE","type":"education","lineage":["https://openalex.org/I62916508"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Martin Boeker","raw_affiliation_strings":["Fakult\u00e4t f\u00fcr Medizin, Technische Universit\u00e4t M\u00fcnchen , Munich, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Fakult\u00e4t f\u00fcr Medizin, Technische Universit\u00e4t M\u00fcnchen , Munich, Germany","institution_ids":["https://openalex.org/I62916508"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5106762313","display_name":"Thomas F. Wienker","orcid":"https://orcid.org/0000-0002-4224-2193"},"institutions":[{"id":"https://openalex.org/I4210142260","display_name":"Max Planck Institute for Molecular Genetics","ror":"https://ror.org/03ate3e03","country_code":"DE","type":"facility","lineage":["https://openalex.org/I149899117","https://openalex.org/I4210142260"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Thomas Wienker","raw_affiliation_strings":["Emeritus Ropers, Max Planck Institute for Molecular Genetics , Berlin, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Emeritus Ropers, Max Planck Institute for Molecular Genetics , Berlin, Germany","institution_ids":["https://openalex.org/I4210142260"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5090273823","display_name":"Andrew J Heidel","orcid":null},"institutions":[{"id":"https://openalex.org/I4210134900","display_name":"Jena University Hospital","ror":"https://ror.org/035rzkx15","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210134900"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Andrew J Heidel","raw_affiliation_strings":["IT Department, Universit\u00e4tsklinikum Jena , Jena, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"IT Department, Universit\u00e4tsklinikum Jena , Jena, Germany","institution_ids":["https://openalex.org/I4210134900"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082059548","display_name":"Manuela Benary","orcid":"https://orcid.org/0000-0002-3067-2030"},"institutions":[{"id":"https://openalex.org/I4210139777","display_name":"Berlin Institute of Health at Charit\u00e9 - Universit\u00e4tsmedizin Berlin","ror":"https://ror.org/0493xsw21","country_code":"DE","type":"facility","lineage":["https://openalex.org/I4210139777","https://openalex.org/I7877124"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Manuela Benary","raw_affiliation_strings":["Core Unit Bioinformatics, Berlin Institute of Health (BIH) at Charit\u00e9 - Universit\u00e4tsmedizin Berlin , Berlin, Germany"],"raw_orcid":"https://orcid.org/0000-0002-3067-2030","affiliations":[{"raw_affiliation_string":"Core Unit Bioinformatics, Berlin Institute of Health (BIH) at Charit\u00e9 - Universit\u00e4tsmedizin Berlin , Berlin, Germany","institution_ids":["https://openalex.org/I4210139777"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5005108838","display_name":"Simon Schumacher","orcid":"https://orcid.org/0000-0002-2332-8805"},"institutions":[{"id":"https://openalex.org/I4210153755","display_name":"University Hospital Cologne","ror":"https://ror.org/05mxhda18","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210153755"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Simon Schumacher","raw_affiliation_strings":["Medical Data Integration Center (MeDIC), Universit\u00e4tsklinikum K\u00f6ln , Cologne, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Medical Data Integration Center (MeDIC), Universit\u00e4tsklinikum K\u00f6ln , Cologne, Germany","institution_ids":["https://openalex.org/I4210153755"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5088012592","display_name":"Stephan Ossowski","orcid":"https://orcid.org/0000-0002-7416-9568"},"institutions":[{"id":"https://openalex.org/I8087733","display_name":"University of T\u00fcbingen","ror":"https://ror.org/03a1kwz48","country_code":"DE","type":"education","lineage":["https://openalex.org/I8087733"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Stephan Ossowski","raw_affiliation_strings":["Institute of Medical Genetics and Applied Genomics, University of T\u00fcbingen , T\u00fcbingen, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Medical Genetics and Applied Genomics, University of T\u00fcbingen , T\u00fcbingen, Germany","institution_ids":["https://openalex.org/I8087733"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5058109622","display_name":"Frederick Klauschen","orcid":"https://orcid.org/0000-0002-9131-2389"},"institutions":[{"id":"https://openalex.org/I4210139777","display_name":"Berlin Institute of Health at Charit\u00e9 - Universit\u00e4tsmedizin Berlin","ror":"https://ror.org/0493xsw21","country_code":"DE","type":"facility","lineage":["https://openalex.org/I4210139777","https://openalex.org/I7877124"]},{"id":"https://openalex.org/I4401727010","display_name":"Berlin Institute for the Foundations of Learning and Data","ror":"https://ror.org/05dsfb086","country_code":null,"type":"facility","lineage":["https://openalex.org/I4401727010","https://openalex.org/I4577782","https://openalex.org/I7877124"]},{"id":"https://openalex.org/I7877124","display_name":"Charit\u00e9 - Universit\u00e4tsmedizin Berlin","ror":"https://ror.org/001w7jn25","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I7877124"]},{"id":"https://openalex.org/I8204097","display_name":"Ludwig-Maximilians-Universit\u00e4t M\u00fcnchen","ror":"https://ror.org/05591te55","country_code":"DE","type":"education","lineage":["https://openalex.org/I8204097"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Frederick Klauschen","raw_affiliation_strings":["Berlin Institute for the Foundations of Learning and Data (BIFOLD) , Berlin, Germany","Institut f\u00fcr Pathologie, Charit\u00e9 - Universit\u00e4tsmedizin Berlin , Berlin, Germany","Pathologisches Institut, Ludwig-Maximilians-Universit\u00e4t M\u00fcnchen , Munich, Germany","Berlin Institute for the Foundations of Learning and Data (BIFOLD), Berlin, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Berlin Institute for the Foundations of Learning and Data (BIFOLD) , Berlin, Germany","institution_ids":["https://openalex.org/I4401727010"]},{"raw_affiliation_string":"Institut f\u00fcr Pathologie, Charit\u00e9 - Universit\u00e4tsmedizin Berlin , Berlin, Germany","institution_ids":["https://openalex.org/I7877124","https://openalex.org/I4210139777"]},{"raw_affiliation_string":"Pathologisches Institut, Ludwig-Maximilians-Universit\u00e4t M\u00fcnchen , Munich, Germany","institution_ids":["https://openalex.org/I8204097"]},{"raw_affiliation_string":"Berlin Institute for the Foundations of Learning and Data (BIFOLD), Berlin, Germany","institution_ids":["https://openalex.org/I4401727010"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5051834603","display_name":"Yvonne M\u00f6ller","orcid":null},"institutions":[{"id":"https://openalex.org/I4210094118","display_name":"Universit\u00e4tsklinikum T\u00fcbingen","ror":"https://ror.org/00pjgxh97","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210094118"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Yvonne M\u00f6ller","raw_affiliation_strings":["Center for personalized medicine (ZPM), Universit\u00e4tsklinikum T\u00fcbingen , T\u00fcbingen, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for personalized medicine (ZPM), Universit\u00e4tsklinikum T\u00fcbingen , T\u00fcbingen, Germany","institution_ids":["https://openalex.org/I4210094118"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5086087263","display_name":"Rita Schmutzler","orcid":null},"institutions":[{"id":"https://openalex.org/I4210153755","display_name":"University Hospital Cologne","ror":"https://ror.org/05mxhda18","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210153755"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Rita Schmutzler","raw_affiliation_strings":["Center Familial Breast and Ovarian Cancer, National Center of Familial Tumor Diseases and Center of Integrated Oncology, Universit\u00e4tsklinikum K\u00f6ln , Cologne, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center Familial Breast and Ovarian Cancer, National Center of Familial Tumor Diseases and Center of Integrated Oncology, Universit\u00e4tsklinikum K\u00f6ln , Cologne, Germany","institution_ids":["https://openalex.org/I4210153755"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5039591070","display_name":"Arsenij Ustjanzew","orcid":"https://orcid.org/0000-0002-1014-4521"},"institutions":[{"id":"https://openalex.org/I197323543","display_name":"Johannes Gutenberg University Mainz","ror":"https://ror.org/023b0x485","country_code":"DE","type":"education","lineage":["https://openalex.org/I197323543"]},{"id":"https://openalex.org/I4210094062","display_name":"University Medical Center of the Johannes Gutenberg University Mainz","ror":"https://ror.org/00q1fsf04","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210094062"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Arsenij Ustjanzew","raw_affiliation_strings":["Institut f\u00fcr Medizinische, Biometrie, Epidemiologie und Informatik Mainz, Universit\u00e4tsmedizin der Johannes Gutenberg-Universit\u00e4t Mainz , Mainz, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institut f\u00fcr Medizinische, Biometrie, Epidemiologie und Informatik Mainz, Universit\u00e4tsmedizin der Johannes Gutenberg-Universit\u00e4t Mainz , Mainz, Germany","institution_ids":["https://openalex.org/I197323543","https://openalex.org/I4210094062"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5035275295","display_name":"P. Wilhelm Werner","orcid":null},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Patrick Werner","raw_affiliation_strings":["MOLIT Institut gGmbH , Heilbronn, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"MOLIT Institut gGmbH , Heilbronn, Germany","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5040311116","display_name":"Aurelie Tomczak","orcid":"https://orcid.org/0009-0004-4072-8167"},"institutions":[{"id":"https://openalex.org/I223822909","display_name":"Heidelberg University","ror":"https://ror.org/038t36y30","country_code":"DE","type":"education","lineage":["https://openalex.org/I223822909"]},{"id":"https://openalex.org/I2802164966","display_name":"University Hospital Heidelberg","ror":"https://ror.org/013czdx64","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I2802164966"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Aurelie Tomczak","raw_affiliation_strings":["Liver Cancer Centre Heidelberg, Institute of Pathology, Heidelberg University Hospital , Heidelberg, Germany"],"raw_orcid":"https://orcid.org/0009-0004-4072-8167","affiliations":[{"raw_affiliation_string":"Liver Cancer Centre Heidelberg, Institute of Pathology, Heidelberg University Hospital , Heidelberg, Germany","institution_ids":["https://openalex.org/I2802164966","https://openalex.org/I223822909"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5066392112","display_name":"Thimo H\u00f6lter","orcid":"https://orcid.org/0000-0002-5949-5269"},"institutions":[{"id":"https://openalex.org/I4210139777","display_name":"Berlin Institute of Health at Charit\u00e9 - Universit\u00e4tsmedizin Berlin","ror":"https://ror.org/0493xsw21","country_code":"DE","type":"facility","lineage":["https://openalex.org/I4210139777","https://openalex.org/I7877124"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Thimo H\u00f6lter","raw_affiliation_strings":["Core Facility Digital Medicine and Interoperability, Berlin Institute of Health (BIH) at Charit\u00e9 - Universit\u00e4tsmedizin Berlin , Berlin, Germany"],"raw_orcid":"https://orcid.org/0000-0002-5949-5269","affiliations":[{"raw_affiliation_string":"Core Facility Digital Medicine and Interoperability, Berlin Institute of Health (BIH) at Charit\u00e9 - Universit\u00e4tsmedizin Berlin , Berlin, Germany","institution_ids":["https://openalex.org/I4210139777"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5045196355","display_name":"Sylvia Thun","orcid":"https://orcid.org/0000-0002-3346-6806"},"institutions":[{"id":"https://openalex.org/I4210139777","display_name":"Berlin Institute of Health at Charit\u00e9 - Universit\u00e4tsmedizin Berlin","ror":"https://ror.org/0493xsw21","country_code":"DE","type":"facility","lineage":["https://openalex.org/I4210139777","https://openalex.org/I7877124"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Sylvia Thun","raw_affiliation_strings":["Core Facility Digital Medicine and Interoperability, Berlin Institute of Health (BIH) at Charit\u00e9 - Universit\u00e4tsmedizin Berlin , Berlin, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Core Facility Digital Medicine and Interoperability, Berlin Institute of Health (BIH) at Charit\u00e9 - Universit\u00e4tsmedizin Berlin , Berlin, Germany","institution_ids":["https://openalex.org/I4210139777"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":17,"corresponding_author_ids":["https://openalex.org/A5042996842"],"corresponding_institution_ids":["https://openalex.org/I4210139777"],"apc_list":{"value":3967,"currency":"USD","value_usd":3967},"apc_paid":{"value":3967,"currency":"USD","value_usd":3967},"fwci":4.0931,"has_fulltext":true,"cited_by_count":14,"citation_normalized_percentile":{"value":0.94090281,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":98,"max":99},"biblio":{"volume":"30","issue":"6","first_page":"1179","last_page":"1189"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.7447999715805054,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.7447999715805054,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10769","display_name":"BRCA gene mutations in cancer","score":0.13740000128746033,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.03370000049471855,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.664051353931427},{"id":"https://openalex.org/keywords/health-informatics","display_name":"Health informatics","score":0.5658938884735107},{"id":"https://openalex.org/keywords/genomics","display_name":"Genomics","score":0.5139755606651306},{"id":"https://openalex.org/keywords/data-science","display_name":"Data science","score":0.46917253732681274},{"id":"https://openalex.org/keywords/data-integration","display_name":"Data integration","score":0.4536423683166504},{"id":"https://openalex.org/keywords/resource","display_name":"Resource (disambiguation)","score":0.43917131423950195},{"id":"https://openalex.org/keywords/key","display_name":"Key (lock)","score":0.43793758749961853},{"id":"https://openalex.org/keywords/information-retrieval","display_name":"Information retrieval","score":0.3949112892150879},{"id":"https://openalex.org/keywords/data-mining","display_name":"Data mining","score":0.3851395547389984},{"id":"https://openalex.org/keywords/medicine","display_name":"Medicine","score":0.22502455115318298},{"id":"https://openalex.org/keywords/public-health","display_name":"Public health","score":0.13706275820732117},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.10144439339637756}],"concepts":[{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.664051353931427},{"id":"https://openalex.org/C145642194","wikidata":"https://www.wikidata.org/wiki/Q870895","display_name":"Health informatics","level":3,"score":0.5658938884735107},{"id":"https://openalex.org/C189206191","wikidata":"https://www.wikidata.org/wiki/Q222046","display_name":"Genomics","level":4,"score":0.5139755606651306},{"id":"https://openalex.org/C2522767166","wikidata":"https://www.wikidata.org/wiki/Q2374463","display_name":"Data science","level":1,"score":0.46917253732681274},{"id":"https://openalex.org/C72634772","wikidata":"https://www.wikidata.org/wiki/Q386824","display_name":"Data integration","level":2,"score":0.4536423683166504},{"id":"https://openalex.org/C206345919","wikidata":"https://www.wikidata.org/wiki/Q20380951","display_name":"Resource (disambiguation)","level":2,"score":0.43917131423950195},{"id":"https://openalex.org/C26517878","wikidata":"https://www.wikidata.org/wiki/Q228039","display_name":"Key (lock)","level":2,"score":0.43793758749961853},{"id":"https://openalex.org/C23123220","wikidata":"https://www.wikidata.org/wiki/Q816826","display_name":"Information retrieval","level":1,"score":0.3949112892150879},{"id":"https://openalex.org/C124101348","wikidata":"https://www.wikidata.org/wiki/Q172491","display_name":"Data mining","level":1,"score":0.3851395547389984},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.22502455115318298},{"id":"https://openalex.org/C138816342","wikidata":"https://www.wikidata.org/wiki/Q189603","display_name":"Public health","level":2,"score":0.13706275820732117},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.10144439339637756},{"id":"https://openalex.org/C31258907","wikidata":"https://www.wikidata.org/wiki/Q1301371","display_name":"Computer network","level":1,"score":0.0},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.0},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.0},{"id":"https://openalex.org/C38652104","wikidata":"https://www.wikidata.org/wiki/Q3510521","display_name":"Computer security","level":1,"score":0.0},{"id":"https://openalex.org/C159110408","wikidata":"https://www.wikidata.org/wiki/Q121176","display_name":"Nursing","level":1,"score":0.0},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D005858","descriptor_name":"Germany","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005858","descriptor_name":"Germany","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005858","descriptor_name":"Germany","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020000","descriptor_name":"Decision Support Systems, Clinical","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020000","descriptor_name":"Decision Support Systems, Clinical","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020000","descriptor_name":"Decision Support Systems, Clinical","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D023281","descriptor_name":"Genomics","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D023281","descriptor_name":"Genomics","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D023281","descriptor_name":"Genomics","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D057208","descriptor_name":"Health Level Seven","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D057208","descriptor_name":"Health Level Seven","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D057208","descriptor_name":"Health Level Seven","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D057286","descriptor_name":"Electronic Health Records","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D057286","descriptor_name":"Electronic Health Records","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D057286","descriptor_name":"Electronic Health Records","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":5,"locations":[{"id":"doi:10.1093/jamia/ocad061","is_oa":true,"landing_page_url":"https://doi.org/10.1093/jamia/ocad061","pdf_url":"https://academic.oup.com/jamia/advance-article-pdf/doi/10.1093/jamia/ocad061/50050994/ocad061.pdf","source":{"id":"https://openalex.org/S129839026","display_name":"Journal of the American Medical Informatics Association","issn_l":"1067-5027","issn":["1067-5027","1527-974X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of the American Medical Informatics Association","raw_type":"journal-article"},{"id":"pmid:37080557","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/37080557","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of the American Medical Informatics Association : JAMIA","raw_type":null},{"id":"pmh:oai:edoc.mdc-berlin.de:25079","is_oa":true,"landing_page_url":"https://edoc.mdc-berlin.de/id/eprint/25079/2/25079suppl.docx","pdf_url":"https://edoc.mdc-berlin.de/id/eprint/25079/1/25079oa.pdf","source":{"id":"https://openalex.org/S4306400224","display_name":"MDC Repository (Max-Delbrueck-Center for Molecular Medicine)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I149899117","host_organization_name":"Max Planck Society","host_organization_lineage":["https://openalex.org/I149899117"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"PeerReviewed"},{"id":"pmh:oai:pubmedcentral.nih.gov:10198526","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/10198526","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC10198526/pdf/ocad061.pdf","source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"J Am Med Inform Assoc","raw_type":"Text"},{"id":"pmh:oai:mediatum.ub.tum.de:node/1751375","is_oa":false,"landing_page_url":"https://mediatum.ub.tum.de/1751375","pdf_url":null,"source":{"id":"https://openalex.org/S4377196330","display_name":"mediaTUM  (Technical University of Munich)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I62916508","host_organization_name":"Technical University of Munich","host_organization_lineage":["https://openalex.org/I62916508"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"article"}],"best_oa_location":{"id":"doi:10.1093/jamia/ocad061","is_oa":true,"landing_page_url":"https://doi.org/10.1093/jamia/ocad061","pdf_url":"https://academic.oup.com/jamia/advance-article-pdf/doi/10.1093/jamia/ocad061/50050994/ocad061.pdf","source":{"id":"https://openalex.org/S129839026","display_name":"Journal of the American Medical Informatics Association","issn_l":"1067-5027","issn":["1067-5027","1527-974X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of the American Medical Informatics Association","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.550000011920929,"id":"https://metadata.un.org/sdg/17","display_name":"Partnerships for the goals"}],"awards":[{"id":"https://openalex.org/G5644826747","display_name":null,"funder_award_id":"01ZZ1802","funder_id":"https://openalex.org/F4320321114","funder_display_name":"Bundesministerium f\u00fcr Bildung und Forschung"}],"funders":[{"id":"https://openalex.org/F4320321114","display_name":"Bundesministerium f\u00fcr Bildung und Forschung","ror":"https://ror.org/04pz7b180"}],"has_content":{"grobid_xml":false,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4366551404.pdf"},"referenced_works_count":57,"referenced_works":["https://openalex.org/W1962919783","https://openalex.org/W1971192989","https://openalex.org/W2126714363","https://openalex.org/W2155878985","https://openalex.org/W2308510141","https://openalex.org/W2510776769","https://openalex.org/W2541090023","https://openalex.org/W2549633508","https://openalex.org/W2558859368","https://openalex.org/W2806780364","https://openalex.org/W2889295721","https://openalex.org/W2902328511","https://openalex.org/W2923757114","https://openalex.org/W2927618980","https://openalex.org/W2941471823","https://openalex.org/W2944904335","https://openalex.org/W2945704446","https://openalex.org/W2969628488","https://openalex.org/W2978624583","https://openalex.org/W3005863304","https://openalex.org/W3016584580","https://openalex.org/W3024015608","https://openalex.org/W3028329270","https://openalex.org/W3030501309","https://openalex.org/W3033701936","https://openalex.org/W3036334251","https://openalex.org/W3107854306","https://openalex.org/W3127526692","https://openalex.org/W3128937124","https://openalex.org/W3157300279","https://openalex.org/W3204593612","https://openalex.org/W4212880798","https://openalex.org/W4220831637","https://openalex.org/W4223478012","https://openalex.org/W4226475611","https://openalex.org/W4236486088","https://openalex.org/W4282918066","https://openalex.org/W4306168813","https://openalex.org/W4312094443","https://openalex.org/W6640941928","https://openalex.org/W6642980432","https://openalex.org/W6751858663","https://openalex.org/W6756727424","https://openalex.org/W6760709738","https://openalex.org/W6762597055","https://openalex.org/W6773992892","https://openalex.org/W6776321279","https://openalex.org/W6777167086","https://openalex.org/W6778057310","https://openalex.org/W6778115560","https://openalex.org/W6779099941","https://openalex.org/W6779517132","https://openalex.org/W6790469884","https://openalex.org/W6802890674","https://openalex.org/W6808849730","https://openalex.org/W6839993667","https://openalex.org/W6847241114"],"related_works":["https://openalex.org/W2140798747","https://openalex.org/W2948169060","https://openalex.org/W2730112582","https://openalex.org/W2358580169","https://openalex.org/W2111347279","https://openalex.org/W2110696645","https://openalex.org/W2487211728","https://openalex.org/W2378096925","https://openalex.org/W2348031209","https://openalex.org/W2485376993"],"abstract_inverted_index":{"OBJECTIVE:":[0],"The":[1],"objective":[2],"was":[3,71,81,119,156,179],"to":[4,26,83,96,104,121,173,196,226],"develop":[5],"a":[6,20,62,74,84,133,219,228],"dataset":[7,63,93,110],"definition,":[8],"information":[9,51,125],"model,":[10],"and":[11,29,60,146,153],"FHIR\u00ae":[12,78],"specification":[13,79,135],"for":[14,76,221,231,249],"key":[15,58,124],"data":[16,113,177,194,244],"elements":[17,89,195],"contained":[18,52],"in":[19,32,44,53,90,100],"German":[21,46,127],"molecular":[22],"genomics":[23],"(MolGen)":[24],"report":[25,176,193,216,234],"facilitate":[27],"genomic":[28,233,243],"phenotype":[30],"integration":[31,241],"electronic":[33,246],"health":[34,247],"records.":[35],"MATERIALS":[36],"AND":[37],"METHODS:":[38],"A":[39,108],"dedicated":[40],"expert":[41],"group":[42],"participating":[43],"the":[45,57,77,91,97,151,188,191,197,201,206,209],"Medical":[47],"Informatics":[48],"Initiative":[49],"reviewed":[50],"MolGen":[54,92,128,175,192],"reports,":[55],"determined":[56],"elements,":[59,114],"formulated":[61],"definition.":[64],"HL7's":[65],"Genomics":[66,143],"Reporting":[67,144],"Implementation":[68],"Guide":[69],"(IG)":[70],"adopted":[72],"as":[73,218],"basis":[75],"which":[80],"subjected":[82],"public":[85],"ballot.":[86],"In":[87],"addition,":[88],"were":[94],"mapped":[95],"fields":[98,198],"defined":[99,199],"ISO/TS":[101],"20428:2017":[102,203],"standard":[103,169,229,238],"evaluate":[105],"compliance.":[106],"RESULTS:":[107],"core":[109],"of":[111,126,166,190,208,211,237,242],"76":[112],"clustered":[115],"into":[116,245],"6":[117],"categories":[118],"created":[120],"represent":[122],"all":[123],"reports.":[129],"Based":[130],"on":[131],"this,":[132],"FHIR":[134],"with":[136],"16":[137],"profiles,":[138],"14":[139],"derived":[140],"from":[141],"HL7\u00ae's":[142],"IG":[145],"2":[147],"additional":[148],"profiles":[149],"(of":[150],"FamilyMemberHistory":[152],"RiskAssessment":[154],"resources),":[155],"developed.":[157],"Five":[158],"example":[159],"resource":[160],"bundles":[161],"show":[162],"how":[163],"our":[164],"adaptation":[165],"an":[167],"international":[168],"can":[170],"be":[171],"used":[172],"model":[174],"that":[178],"requested":[180],"following":[181],"oncological":[182],"or":[183],"rare":[184],"disease":[185],"indications.":[186],"Furthermore,":[187],"map":[189],"by":[200],"ISO/TC":[202],"standard,":[204],"confirmed":[205],"presence":[207],"majority":[210],"required":[212],"fields.":[213],"CONCLUSIONS:":[214],"Our":[215],"serves":[217],"template":[220],"other":[222],"research":[223],"initiatives":[224],"attempting":[225],"create":[227],"format":[230],"unstructured":[232],"data.":[235],"Use":[236],"formats":[239],"facilitates":[240],"records":[248],"clinical":[250],"decision":[251],"support.":[252]},"counts_by_year":[{"year":2026,"cited_by_count":3},{"year":2025,"cited_by_count":6},{"year":2024,"cited_by_count":5}],"updated_date":"2026-05-21T06:26:12.895304","created_date":"2025-10-10T00:00:00"}
