{"id":"https://openalex.org/W4401834695","doi":"https://doi.org/10.3233/shti240418","title":"Multi-Source Data ETL (Extract, Transform, Load) for a Genetic Epilepsy Diagnosis and Treatment Dashboard","display_name":"Multi-Source Data ETL (Extract, Transform, Load) for a Genetic Epilepsy Diagnosis and Treatment Dashboard","publication_year":2024,"publication_date":"2024-08-22","ids":{"openalex":"https://openalex.org/W4401834695","doi":"https://doi.org/10.3233/shti240418","pmid":"https://pubmed.ncbi.nlm.nih.gov/39176748"},"language":"en","primary_location":{"is_oa":true,"landing_page_url":"https://doi.org/10.3233/shti240418","pdf_url":"https://ebooks.iospress.nl/pdf/doi/10.3233/SHTI240418","source":{"id":"https://openalex.org/S4210179765","display_name":"Studies in health technology and informatics","issn_l":"0926-9630","issn":["0926-9630","1879-8365"],"is_oa":false,"is_in_doaj":false,"is_core":true,"host_organization":"https://openalex.org/P4310318577","host_organization_name":"IOS Press","host_organization_lineage":["https://openalex.org/P4310318577"],"host_organization_lineage_names":["IOS Press"],"type":"book series"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true},"type":"article","type_crossref":"book-chapter","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://ebooks.iospress.nl/pdf/doi/10.3233/SHTI240418","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5016104495","display_name":"Ariadna P\u00e9rez Garriga","orcid":"https://orcid.org/0000-0001-8840-1770"},"institutions":[{"id":"https://openalex.org/I887968799","display_name":"RWTH Aachen University","ror":"https://ror.org/04xfq0f34","country_code":"DE","type":"education","lineage":["https://openalex.org/I887968799"]}],"countries":["DE"],"is_corresponding":true,"raw_author_name":"Ariadna P\u00e9rez Garriga","raw_affiliation_strings":["Institute of Medical Informatics, Medical Faculty, RWTH Aachen University, Aachen, Germany"],"affiliations":[{"raw_affiliation_string":"Institute of Medical Informatics, Medical Faculty, RWTH Aachen University, Aachen, Germany","institution_ids":["https://openalex.org/I887968799"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5026636034","display_name":"Philipp Honrath","orcid":"https://orcid.org/0000-0001-8763-4871"},"institutions":[{"id":"https://openalex.org/I887968799","display_name":"RWTH Aachen University","ror":"https://ror.org/04xfq0f34","country_code":"DE","type":"education","lineage":["https://openalex.org/I887968799"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Philipp Honrath","raw_affiliation_strings":["Department of Epileptology and Neurology, Medical Faculty, RWTH Aachen University, Aachen, Germany"],"affiliations":[{"raw_affiliation_string":"Department of Epileptology and Neurology, Medical Faculty, RWTH Aachen University, Aachen, Germany","institution_ids":["https://openalex.org/I887968799"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5057997562","display_name":"Stefan Wolking","orcid":"https://orcid.org/0000-0002-1460-6623"},"institutions":[{"id":"https://openalex.org/I887968799","display_name":"RWTH Aachen University","ror":"https://ror.org/04xfq0f34","country_code":"DE","type":"education","lineage":["https://openalex.org/I887968799"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Stefan Wolking","raw_affiliation_strings":["Department of Epileptology and Neurology, Medical Faculty, RWTH Aachen University, Aachen, Germany"],"affiliations":[{"raw_affiliation_string":"Department of Epileptology and Neurology, Medical Faculty, RWTH Aachen University, Aachen, Germany","institution_ids":["https://openalex.org/I887968799"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5081223382","display_name":"Beatrice Coldewey","orcid":"https://orcid.org/0000-0001-9564-9467"},"institutions":[{"id":"https://openalex.org/I887968799","display_name":"RWTH Aachen University","ror":"https://ror.org/04xfq0f34","country_code":"DE","type":"education","lineage":["https://openalex.org/I887968799"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Beatrice Coldewey","raw_affiliation_strings":["Institute of Medical Informatics, Medical Faculty, RWTH Aachen University, Aachen, Germany"],"affiliations":[{"raw_affiliation_string":"Institute of Medical Informatics, Medical Faculty, RWTH Aachen University, Aachen, Germany","institution_ids":["https://openalex.org/I887968799"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5106694849","display_name":"Susann A. Bozkir","orcid":null},"institutions":[{"id":"https://openalex.org/I887968799","display_name":"RWTH Aachen University","ror":"https://ror.org/04xfq0f34","country_code":"DE","type":"education","lineage":["https://openalex.org/I887968799"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Susann A. Bozkir","raw_affiliation_strings":["Institute of Medical Informatics, Medical Faculty, RWTH Aachen University, Aachen, Germany"],"affiliations":[{"raw_affiliation_string":"Institute of Medical Informatics, Medical Faculty, RWTH Aachen University, Aachen, Germany","institution_ids":["https://openalex.org/I887968799"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5057437092","display_name":"Patrick May","orcid":"https://orcid.org/0000-0001-8698-3770"},"institutions":[{"id":"https://openalex.org/I186903577","display_name":"University of Luxembourg","ror":"https://ror.org/036x5ad56","country_code":"LU","type":"education","lineage":["https://openalex.org/I186903577"]}],"countries":["LU"],"is_corresponding":false,"raw_author_name":"Patrick May","raw_affiliation_strings":["Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg"],"affiliations":[{"raw_affiliation_string":"Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg","institution_ids":["https://openalex.org/I186903577"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082431502","display_name":"Yvonne G. Weber","orcid":"https://orcid.org/0000-0002-0806-5592"},"institutions":[{"id":"https://openalex.org/I887968799","display_name":"RWTH Aachen University","ror":"https://ror.org/04xfq0f34","country_code":"DE","type":"education","lineage":["https://openalex.org/I887968799"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Yvonne Weber","raw_affiliation_strings":["Department of Epileptology and Neurology, Medical Faculty, RWTH Aachen University, Aachen, Germany"],"affiliations":[{"raw_affiliation_string":"Department of Epileptology and Neurology, Medical Faculty, RWTH Aachen University, Aachen, Germany","institution_ids":["https://openalex.org/I887968799"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5023320459","display_name":"Rainer R\u00f6hrig","orcid":"https://orcid.org/0000-0002-0032-5118"},"institutions":[{"id":"https://openalex.org/I887968799","display_name":"RWTH Aachen University","ror":"https://ror.org/04xfq0f34","country_code":"DE","type":"education","lineage":["https://openalex.org/I887968799"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Rainer R\u00f6hrig","raw_affiliation_strings":["Institute of Medical Informatics, Medical Faculty, RWTH Aachen University, Aachen, Germany"],"affiliations":[{"raw_affiliation_string":"Institute of Medical Informatics, Medical Faculty, RWTH Aachen University, Aachen, Germany","institution_ids":["https://openalex.org/I887968799"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5018678803","display_name":"Myriam Lipprandt","orcid":"https://orcid.org/0000-0001-9371-0551"},"institutions":[{"id":"https://openalex.org/I887968799","display_name":"RWTH Aachen University","ror":"https://ror.org/04xfq0f34","country_code":"DE","type":"education","lineage":["https://openalex.org/I887968799"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Myriam Lipprandt","raw_affiliation_strings":["Institute of Medical Informatics, Medical Faculty, RWTH Aachen University, Aachen, Germany"],"affiliations":[{"raw_affiliation_string":"Institute of Medical Informatics, Medical Faculty, RWTH Aachen University, Aachen, Germany","institution_ids":["https://openalex.org/I887968799"]}]}],"institution_assertions":[],"countries_distinct_count":2,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5016104495"],"corresponding_institution_ids":["https://openalex.org/I887968799"],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.0,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":0,"max":84},"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.9833,"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":0.9833,"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/T11710","display_name":"Biomedical Text Mining and Ontologies","score":0.9643,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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/T11027","display_name":"Metabolism and Genetic Disorders","score":0.91,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical Biochemistry"},"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/dashboard","display_name":"Dashboard","score":0.70566815},{"id":"https://openalex.org/keywords/data-integration","display_name":"Data Integration","score":0.513429},{"id":"https://openalex.org/keywords/variant-databases","display_name":"Variant Databases","score":0.508607},{"id":"https://openalex.org/keywords/genetic-data","display_name":"Genetic data","score":0.4920201},{"id":"https://openalex.org/keywords/data-source","display_name":"Data source","score":0.43130955}],"concepts":[{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.75304955},{"id":"https://openalex.org/C33499554","wikidata":"https://www.wikidata.org/wiki/Q1417134","display_name":"Dashboard","level":2,"score":0.70566815},{"id":"https://openalex.org/C48044578","wikidata":"https://www.wikidata.org/wiki/Q727490","display_name":"Scalability","level":2,"score":0.6598285},{"id":"https://openalex.org/C179518139","wikidata":"https://www.wikidata.org/wiki/Q5140297","display_name":"Coding (social sciences)","level":2,"score":0.6282486},{"id":"https://openalex.org/C2993807623","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genetic data","level":3,"score":0.4920201},{"id":"https://openalex.org/C2983685735","wikidata":"https://www.wikidata.org/wiki/Q5227355","display_name":"Data source","level":2,"score":0.43130955},{"id":"https://openalex.org/C2778186239","wikidata":"https://www.wikidata.org/wiki/Q41571","display_name":"Epilepsy","level":2,"score":0.42874065},{"id":"https://openalex.org/C124101348","wikidata":"https://www.wikidata.org/wiki/Q172491","display_name":"Data mining","level":1,"score":0.41305214},{"id":"https://openalex.org/C2522767166","wikidata":"https://www.wikidata.org/wiki/Q2374463","display_name":"Data science","level":1,"score":0.4065771},{"id":"https://openalex.org/C77088390","wikidata":"https://www.wikidata.org/wiki/Q8513","display_name":"Database","level":1,"score":0.344116},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.12241003},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.0},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.0},{"id":"https://openalex.org/C105795698","wikidata":"https://www.wikidata.org/wiki/Q12483","display_name":"Statistics","level":1,"score":0.0},{"id":"https://openalex.org/C33923547","wikidata":"https://www.wikidata.org/wiki/Q395","display_name":"Mathematics","level":0,"score":0.0},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D030541","descriptor_name":"Databases, Genetic","qualifier_ui":"","qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004827","descriptor_name":"Epilepsy","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":"","qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"is_oa":true,"landing_page_url":"https://doi.org/10.3233/shti240418","pdf_url":"https://ebooks.iospress.nl/pdf/doi/10.3233/SHTI240418","source":{"id":"https://openalex.org/S4210179765","display_name":"Studies in health technology and informatics","issn_l":"0926-9630","issn":["0926-9630","1879-8365"],"is_oa":false,"is_in_doaj":false,"is_core":true,"host_organization":"https://openalex.org/P4310318577","host_organization_name":"IOS Press","host_organization_lineage":["https://openalex.org/P4310318577"],"host_organization_lineage_names":["IOS Press"],"type":"book series"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true},{"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/39176748","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":["National Institutes of Health"],"type":"repository"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false}],"best_oa_location":{"is_oa":true,"landing_page_url":"https://doi.org/10.3233/shti240418","pdf_url":"https://ebooks.iospress.nl/pdf/doi/10.3233/SHTI240418","source":{"id":"https://openalex.org/S4210179765","display_name":"Studies in health technology and informatics","issn_l":"0926-9630","issn":["0926-9630","1879-8365"],"is_oa":false,"is_in_doaj":false,"is_core":true,"host_organization":"https://openalex.org/P4310318577","host_organization_name":"IOS Press","host_organization_lineage":["https://openalex.org/P4310318577"],"host_organization_lineage_names":["IOS Press"],"type":"book series"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true},"sustainable_development_goals":[{"score":0.75,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"grants":[],"datasets":[],"versions":[],"referenced_works_count":3,"referenced_works":["https://openalex.org/W2588135385","https://openalex.org/W2924366642","https://openalex.org/W4283075077"],"related_works":["https://openalex.org/W4386891374","https://openalex.org/W4292603292","https://openalex.org/W4239369595","https://openalex.org/W3048913176","https://openalex.org/W2947439131","https://openalex.org/W2808637346","https://openalex.org/W2607236244","https://openalex.org/W2382083831","https://openalex.org/W2169792944","https://openalex.org/W2048767857"],"abstract_inverted_index":{"The":[0],"growing":[1],"number":[2],"of":[3,23,31,40,58],"genes":[4],"identified":[5],"in":[6,14,75],"relation":[7],"to":[8,71,79],"epilepsy":[9],"represents":[10],"a":[11,66,76,82],"major":[12],"breakthrough":[13],"diagnosis":[15],"and":[16,26,46,68],"treatment,":[17],"but":[18],"experts":[19,80],"face":[20],"the":[21,28,38,56,73],"challenge":[22],"efficiently":[24],"accessing":[25],"consolidating":[27],"vast":[29],"amount":[30],"genetic":[32],"data":[33,42,74],"available.":[34],"Therefore,":[35],"we":[36],"present":[37,72],"process":[39],"transforming":[41],"from":[43],"different":[44],"sources":[45],"formats":[47],"into":[48],"an":[49],"Entity-Attribute-Value":[50],"(EAV)":[51],"model":[52],"database.":[53],"Combined":[54],"with":[55],"use":[57],"standard":[59],"coding":[60],"systems,":[61],"this":[62],"approach":[63],"will":[64],"provide":[65],"scalable":[67],"adaptable":[69],"database":[70],"comprehensive":[77],"way":[78],"via":[81],"dashboard.":[83]},"cited_by_api_url":"https://api.openalex.org/works?filter=cites:W4401834695","counts_by_year":[],"updated_date":"2024-12-05T01:17:46.682168","created_date":"2024-08-24"}
