{"id":"https://openalex.org/W2909445002","doi":null,"title":"Abstract 20778: Implementing an EHR-Based Phenotyping Algorithm to Detect Familial Hypercholesterolemia Cases in the eMERGE Network","display_name":"Abstract 20778: Implementing an EHR-Based Phenotyping Algorithm to Detect Familial Hypercholesterolemia Cases in the eMERGE Network","publication_year":2017,"publication_date":"2017-11-14","ids":{"openalex":"https://openalex.org/W2909445002","mag":"2909445002"},"language":"en","primary_location":{"id":"mag:2909445002","doi":null,"is_oa":false,"landing_page_url":"https://ahajournals.org/doi/10.1161/circ.136.suppl_1.20778","pdf_url":null,"source":{"id":"https://openalex.org/S116251202","display_name":"Circulation","issn_l":"0009-7322","issn":["0009-7322","1524-4539"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":"Circulation","raw_type":null},"volume":null,"type":"conference-abstract","indexed_in":[],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5050387718","display_name":"Maya S. Safarova","orcid":"https://orcid.org/0000-0003-3069-3752","observed_orcids":["https://orcid.org/0000-0003-3069-3752"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Maya Safarova","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0003-3069-3752","affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5042781516","display_name":"Kenneth M. Borthwick","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Kenneth M. Borthwick","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5057839058","display_name":"Agnes S. Sundaresan","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Agnes S. Sundaresan","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5083068957","display_name":"Maurine Tong","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Maurine Tong","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5040262386","display_name":"Wei\u2010Qi Wei","orcid":"https://orcid.org/0000-0003-4985-056X","observed_orcids":["https://orcid.org/0000-0003-4985-056X"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Wei\u2010Qi Wei","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5087506527","display_name":"Vivian S. Gainer","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Vivian S. Gainer","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5055429896","display_name":"Barbara Benoit","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Barbara Benoit","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103832976","display_name":"Elizabeth Wood Karlson","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Elizabeth Wood Karlson","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5065025844","display_name":"Iftikhar J. Kullo","orcid":"https://orcid.org/0000-0002-6524-3471","observed_orcids":["https://orcid.org/0000-0002-6524-3471"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Iftikhar J. Kullo","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0002-6524-3471","affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10394","display_name":"Lipoproteins and Cardiovascular Health","score":0.5116999745368958,"subfield":{"id":"https://openalex.org/subfields/2746","display_name":"Surgery"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10394","display_name":"Lipoproteins and Cardiovascular Health","score":0.5116999745368958,"subfield":{"id":"https://openalex.org/subfields/2746","display_name":"Surgery"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T13702","display_name":"Machine Learning in Healthcare","score":0.2232999950647354,"subfield":{"id":"https://openalex.org/subfields/1702","display_name":"Artificial Intelligence"},"field":{"id":"https://openalex.org/fields/17","display_name":"Computer Science"},"domain":{"id":"https://openalex.org/domains/3","display_name":"Physical Sciences"}},{"id":"https://openalex.org/T10350","display_name":"Electronic Health Records Systems","score":0.15039999783039093,"subfield":{"id":"https://openalex.org/subfields/3605","display_name":"Health Information Management"},"field":{"id":"https://openalex.org/fields/36","display_name":"Health Professions"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/familial-hypercholesterolemia","display_name":"familial hypercholesterolemia","score":1.0},{"id":"https://openalex.org/keywords/electronic-health-records","display_name":"electronic health records","score":0.7239999771118164},{"id":"https://openalex.org/keywords/phenotyping-algorithms","display_name":"phenotyping algorithms","score":0.8640000224113464},{"id":"https://openalex.org/keywords/case-ascertainment","display_name":"case ascertainment","score":0.5590000152587891},{"id":"https://openalex.org/keywords/premature-atherosclerotic-cardiovascular-disease","display_name":"premature atherosclerotic cardiovascular disease","score":0.8989999890327454},{"id":"https://openalex.org/keywords/tendon-xanthomas","display_name":"tendon xanthomas","score":0.8379999995231628},{"id":"https://openalex.org/keywords/corneal-arcus","display_name":"corneal arcus","score":0.996999979019165},{"id":"https://openalex.org/keywords/natural-language-processing","display_name":"natural language processing","score":0.8259999752044678},{"id":"https://openalex.org/keywords/ldl-cholesterol","display_name":"LDL cholesterol","score":0.8489999771118164},{"id":"https://openalex.org/keywords/algorithm-portability","display_name":"algorithm portability","score":0.6340000033378601},{"id":"https://openalex.org/keywords/emerge-network","display_name":"eMERGE Network","score":0.8669999837875366}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.8798017501831055},{"id":"https://openalex.org/C2779120738","wikidata":"https://www.wikidata.org/wiki/Q2711291","display_name":"Familial hypercholesterolemia","level":3,"score":0.7410612106323242},{"id":"https://openalex.org/C11413529","wikidata":"https://www.wikidata.org/wiki/Q8366","display_name":"Algorithm","level":1,"score":0.443913996219635},{"id":"https://openalex.org/C195910791","wikidata":"https://www.wikidata.org/wiki/Q1324077","display_name":"Medical record","level":2,"score":0.42838823795318604},{"id":"https://openalex.org/C2781179581","wikidata":"https://www.wikidata.org/wiki/Q2857712","display_name":"Family history","level":2,"score":0.42544764280319214},{"id":"https://openalex.org/C3019550498","wikidata":"https://www.wikidata.org/wiki/Q28749","display_name":"Ldl cholesterol","level":3,"score":0.41859200596809387},{"id":"https://openalex.org/C154945302","wikidata":"https://www.wikidata.org/wiki/Q11660","display_name":"Artificial intelligence","level":1,"score":0.3474311828613281},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.2740497589111328},{"id":"https://openalex.org/C2778163477","wikidata":"https://www.wikidata.org/wiki/Q43656","display_name":"Cholesterol","level":2,"score":0.19544902443885803},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.15612000226974487}],"mesh":[],"locations_count":1,"locations":[{"id":"mag:2909445002","doi":null,"is_oa":false,"landing_page_url":"https://ahajournals.org/doi/10.1161/circ.136.suppl_1.20778","pdf_url":null,"source":{"id":"https://openalex.org/S116251202","display_name":"Circulation","issn_l":"0009-7322","issn":["0009-7322","1524-4539"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":"Circulation","raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.98580002784729}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2529184920","https://openalex.org/W2516351633","https://openalex.org/W4306642192","https://openalex.org/W4206488553","https://openalex.org/W4403467369","https://openalex.org/W4380762861","https://openalex.org/W2190937134","https://openalex.org/W4412847798","https://openalex.org/W2991804230","https://openalex.org/W2261517112"],"abstract_inverted_index":{"Introduction:":[0],"In":[1],"most":[2],"countries":[3],"<20%":[4],"of":[5,8,28,36,73,77,106,139],"prevalent":[6],"cases":[7],"familial":[9],"hypercholesterolemia":[10],"(FH)":[11],"are":[12],"diagnosed.":[13],"There":[14],"is":[15],"an":[16,37,61],"unmet":[17],"need":[18],"to":[19,23,64,134],"develop":[20],"EHR-based":[21],"strategies":[22],"increase":[24],"detection":[25],"and":[26,34,48,80,96,114],"control":[27],"FH.":[29],"Objective:":[30],"We":[31],"assessed":[32,84,119],"performance":[33],"portability":[35],"electronic":[38,45,62],"phenotyping":[39],"algorithm":[40,63],"for":[41,137],"FH":[42,66],"in":[43],"the":[44,54],"MEdical":[46],"Records":[47],"GEnomics":[49],"(eMERGE)":[50],"Network.":[51],"Methods:":[52],"Using":[53],"Phenotype":[55],"KnowledgeBase":[56],"(PheKB)":[57],"platform,":[58],"we":[59],"deployed":[60],"ascertain":[65],"at":[67,124],"5":[68],"adult":[69],"sites.":[70],"Family":[71],"history":[72,105],"premature":[74,107],"ASCVD/FH,":[75],"findings":[76],"tendon":[78],"xanthomas":[79],"corneal":[81],"arcus":[82],"were":[83,98],"using":[85,111],"natural":[86],"language":[87],"processing":[88],"(NLP)":[89],"systems.":[90,116],"LDL":[91],"cholesterol":[92],"levels,":[93],"secondary":[94],"hypercholesterolemia,":[95],"medications":[97],"ascertained":[99],"from":[100],"structured":[101],"data":[102],"sources.":[103],"Personal":[104],"ASCVD":[108],"was":[109,118],"defined":[110],"both":[112],"code-based":[113],"NLP":[115],"Implementation":[117],"by":[120],"a":[121,128],"15-question":[122],"survey":[123],"each":[125],"site,":[126],"including":[127],"5-point":[129],"Likert":[130],"scale":[131],"(very":[132],"difficult/undesirable":[133],"excellent/very":[135],"desirable)":[136],"ease":[138],"...":[140]},"counts_by_year":[],"updated_date":"2026-09-22T06:50:58.402377","created_date":"2019-01-25T00:00:00"}
