{"id":"https://openalex.org/W4220768028","doi":"https://doi.org/10.1093/database/baac023","title":"Scaling up oligogenic diseases research with OLIDA: the Oligogenic Diseases Database","display_name":"Scaling up oligogenic diseases research with OLIDA: the Oligogenic Diseases Database","publication_year":2022,"publication_date":"2022-01-01","ids":{"openalex":"https://openalex.org/W4220768028","doi":"https://doi.org/10.1093/database/baac023","pmid":"https://pubmed.ncbi.nlm.nih.gov/35411390"},"language":"en","primary_location":{"id":"doi:10.1093/database/baac023","is_oa":true,"landing_page_url":"https://doi.org/10.1093/database/baac023","pdf_url":"https://academic.oup.com/database/article-pdf/doi/10.1093/database/baac023/43365771/baac023.pdf","source":{"id":"https://openalex.org/S4210201630","display_name":"Database","issn_l":"1758-0463","issn":["1758-0463"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311647","host_organization_name":"University of Oxford","host_organization_lineage":["https://openalex.org/P4310311647"],"host_organization_lineage_names":["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":"Database","raw_type":"journal-article"},"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://academic.oup.com/database/article-pdf/doi/10.1093/database/baac023/43365771/baac023.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5047935814","display_name":"Charlotte Nachtegael","orcid":"https://orcid.org/0000-0002-5034-8975"},"institutions":[{"id":"https://openalex.org/I132053463","display_name":"Universit\u00e9 Libre de Bruxelles","ror":"https://ror.org/01r9htc13","country_code":"BE","type":"education","lineage":["https://openalex.org/I132053463"]},{"id":"https://openalex.org/I13469542","display_name":"Vrije Universiteit Brussel","ror":"https://ror.org/006e5kg04","country_code":"BE","type":"education","lineage":["https://openalex.org/I13469542"]}],"countries":["BE"],"is_corresponding":true,"raw_author_name":"Charlotte Nachtegael","raw_affiliation_strings":["Interuniversity Institute of Bioinformatics in Brussels, Universit\u00e9 Libre de Bruxelles-Vrije Universiteit Brussel, Boulevard du Triomphe, CP 263, Brussels 1050, Belgium","Machine Learning Group, Universit\u00e9 Libre de Bruxelles, Boulevard du Triomphe, CP 212, Brussels 1050, Belgium"],"raw_orcid":"https://orcid.org/0000-0002-5034-8975","affiliations":[{"raw_affiliation_string":"Interuniversity Institute of Bioinformatics in Brussels, Universit\u00e9 Libre de Bruxelles-Vrije Universiteit Brussel, Boulevard du Triomphe, CP 263, Brussels 1050, Belgium","institution_ids":["https://openalex.org/I132053463","https://openalex.org/I13469542"]},{"raw_affiliation_string":"Machine Learning Group, Universit\u00e9 Libre de Bruxelles, Boulevard du Triomphe, CP 212, Brussels 1050, Belgium","institution_ids":["https://openalex.org/I132053463"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5075438898","display_name":"Barbara Gravel","orcid":"https://orcid.org/0000-0002-5422-2376"},"institutions":[{"id":"https://openalex.org/I132053463","display_name":"Universit\u00e9 Libre de Bruxelles","ror":"https://ror.org/01r9htc13","country_code":"BE","type":"education","lineage":["https://openalex.org/I132053463"]},{"id":"https://openalex.org/I13469542","display_name":"Vrije Universiteit Brussel","ror":"https://ror.org/006e5kg04","country_code":"BE","type":"education","lineage":["https://openalex.org/I13469542"]}],"countries":["BE"],"is_corresponding":false,"raw_author_name":"Barbara Gravel","raw_affiliation_strings":["Artificial Intelligence Laboratory, Vrije Universiteit Brussel, Pleinlaan 2, Brussels 1050, Belgium","Interuniversity Institute of Bioinformatics in Brussels, Universit\u00e9 Libre de Bruxelles-Vrije Universiteit Brussel, Boulevard du Triomphe, CP 263, Brussels 1050, Belgium","Machine Learning Group, Universit\u00e9 Libre de Bruxelles, Boulevard du Triomphe, CP 212, Brussels 1050, Belgium"],"raw_orcid":"https://orcid.org/0000-0002-5422-2376","affiliations":[{"raw_affiliation_string":"Artificial Intelligence Laboratory, Vrije Universiteit Brussel, Pleinlaan 2, Brussels 1050, Belgium","institution_ids":["https://openalex.org/I13469542"]},{"raw_affiliation_string":"Interuniversity Institute of Bioinformatics in Brussels, Universit\u00e9 Libre de Bruxelles-Vrije Universiteit Brussel, Boulevard du Triomphe, CP 263, Brussels 1050, Belgium","institution_ids":["https://openalex.org/I132053463","https://openalex.org/I13469542"]},{"raw_affiliation_string":"Machine Learning Group, Universit\u00e9 Libre de Bruxelles, Boulevard du Triomphe, CP 212, Brussels 1050, Belgium","institution_ids":["https://openalex.org/I132053463"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5003443286","display_name":"Arnau Dillen","orcid":"https://orcid.org/0000-0001-5840-8920"},"institutions":[{"id":"https://openalex.org/I13469542","display_name":"Vrije Universiteit Brussel","ror":"https://ror.org/006e5kg04","country_code":"BE","type":"education","lineage":["https://openalex.org/I13469542"]}],"countries":["BE"],"is_corresponding":false,"raw_author_name":"Arnau Dillen","raw_affiliation_strings":["Artificial Intelligence Laboratory, Vrije Universiteit Brussel, Pleinlaan 2, Brussels 1050, Belgium","Human Physiology and Sports Physiotherapy research group, Vrije Universiteit Brussel, Pleinlaan 2, Brussels 1050, Belgium"],"raw_orcid":"https://orcid.org/0000-0001-5840-8920","affiliations":[{"raw_affiliation_string":"Artificial Intelligence Laboratory, Vrije Universiteit Brussel, Pleinlaan 2, Brussels 1050, Belgium","institution_ids":["https://openalex.org/I13469542"]},{"raw_affiliation_string":"Human Physiology and Sports Physiotherapy research group, Vrije Universiteit Brussel, Pleinlaan 2, Brussels 1050, Belgium","institution_ids":["https://openalex.org/I13469542"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5084864179","display_name":"Guillaume Smits","orcid":"https://orcid.org/0000-0003-2845-6758"},"institutions":[{"id":"https://openalex.org/I132053463","display_name":"Universit\u00e9 Libre de Bruxelles","ror":"https://ror.org/01r9htc13","country_code":"BE","type":"education","lineage":["https://openalex.org/I132053463"]},{"id":"https://openalex.org/I13469542","display_name":"Vrije Universiteit Brussel","ror":"https://ror.org/006e5kg04","country_code":"BE","type":"education","lineage":["https://openalex.org/I13469542"]},{"id":"https://openalex.org/I2802054198","display_name":"Erasmus Hospital","ror":"https://ror.org/05j1gs298","country_code":"BE","type":"healthcare","lineage":["https://openalex.org/I2802054198"]},{"id":"https://openalex.org/I4210108467","display_name":"Queen Fabiola Children's University Hospital","ror":"https://ror.org/01t5yh786","country_code":"BE","type":"healthcare","lineage":["https://openalex.org/I4210108467"]}],"countries":["BE"],"is_corresponding":false,"raw_author_name":"Guillaume Smits","raw_affiliation_strings":["Center of Human Genetics, H\u00f4pital Erasme, Universit\u00e9 Libre de Bruxelles, Route de Lennik 808, Brussels 1070, Belgium","H\u00f4pital Universitaire des Enfants Reine Fabiola, Universit\u00e9 Libre de Bruxelles, Avenue Jean Joseph Crocq 15, Brussels 1020, Belgium","Interuniversity Institute of Bioinformatics in Brussels, Universit\u00e9 Libre de Bruxelles-Vrije Universiteit Brussel, Boulevard du Triomphe, CP 263, Brussels 1050, Belgium"],"raw_orcid":"https://orcid.org/0000-0003-2845-6758","affiliations":[{"raw_affiliation_string":"Center of Human Genetics, H\u00f4pital Erasme, Universit\u00e9 Libre de Bruxelles, Route de Lennik 808, Brussels 1070, Belgium","institution_ids":["https://openalex.org/I132053463","https://openalex.org/I2802054198"]},{"raw_affiliation_string":"H\u00f4pital Universitaire des Enfants Reine Fabiola, Universit\u00e9 Libre de Bruxelles, Avenue Jean Joseph Crocq 15, Brussels 1020, Belgium","institution_ids":["https://openalex.org/I4210108467","https://openalex.org/I132053463"]},{"raw_affiliation_string":"Interuniversity Institute of Bioinformatics in Brussels, Universit\u00e9 Libre de Bruxelles-Vrije Universiteit Brussel, Boulevard du Triomphe, CP 263, Brussels 1050, Belgium","institution_ids":["https://openalex.org/I132053463","https://openalex.org/I13469542"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5064553018","display_name":"Ann Now\u00e9","orcid":"https://orcid.org/0000-0001-6346-4564"},"institutions":[{"id":"https://openalex.org/I132053463","display_name":"Universit\u00e9 Libre de Bruxelles","ror":"https://ror.org/01r9htc13","country_code":"BE","type":"education","lineage":["https://openalex.org/I132053463"]},{"id":"https://openalex.org/I13469542","display_name":"Vrije Universiteit Brussel","ror":"https://ror.org/006e5kg04","country_code":"BE","type":"education","lineage":["https://openalex.org/I13469542"]}],"countries":["BE"],"is_corresponding":false,"raw_author_name":"Ann Now\u00e9","raw_affiliation_strings":["Artificial Intelligence Laboratory, Vrije Universiteit Brussel, Pleinlaan 2, Brussels 1050, Belgium","Interuniversity Institute of Bioinformatics in Brussels, Universit\u00e9 Libre de Bruxelles-Vrije Universiteit Brussel, Boulevard du Triomphe, CP 263, Brussels 1050, Belgium"],"raw_orcid":"https://orcid.org/0000-0001-6346-4564","affiliations":[{"raw_affiliation_string":"Artificial Intelligence Laboratory, Vrije Universiteit Brussel, Pleinlaan 2, Brussels 1050, Belgium","institution_ids":["https://openalex.org/I13469542"]},{"raw_affiliation_string":"Interuniversity Institute of Bioinformatics in Brussels, Universit\u00e9 Libre de Bruxelles-Vrije Universiteit Brussel, Boulevard du Triomphe, CP 263, Brussels 1050, Belgium","institution_ids":["https://openalex.org/I132053463","https://openalex.org/I13469542"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5021386047","display_name":"Sofia Papadimitriou","orcid":"https://orcid.org/0000-0002-5057-4331"},"institutions":[{"id":"https://openalex.org/I132053463","display_name":"Universit\u00e9 Libre de Bruxelles","ror":"https://ror.org/01r9htc13","country_code":"BE","type":"education","lineage":["https://openalex.org/I132053463"]},{"id":"https://openalex.org/I13469542","display_name":"Vrije Universiteit Brussel","ror":"https://ror.org/006e5kg04","country_code":"BE","type":"education","lineage":["https://openalex.org/I13469542"]}],"countries":["BE"],"is_corresponding":false,"raw_author_name":"Sofia Papadimitriou","raw_affiliation_strings":["Artificial Intelligence Laboratory, Vrije Universiteit Brussel, Pleinlaan 2, Brussels 1050, Belgium","Interuniversity Institute of Bioinformatics in Brussels, Universit\u00e9 Libre de Bruxelles-Vrije Universiteit Brussel, Boulevard du Triomphe, CP 263, Brussels 1050, Belgium","Machine Learning Group, Universit\u00e9 Libre de Bruxelles, Boulevard du Triomphe, CP 212, Brussels 1050, Belgium"],"raw_orcid":"https://orcid.org/0000-0002-5057-4331","affiliations":[{"raw_affiliation_string":"Artificial Intelligence Laboratory, Vrije Universiteit Brussel, Pleinlaan 2, Brussels 1050, Belgium","institution_ids":["https://openalex.org/I13469542"]},{"raw_affiliation_string":"Interuniversity Institute of Bioinformatics in Brussels, Universit\u00e9 Libre de Bruxelles-Vrije Universiteit Brussel, Boulevard du Triomphe, CP 263, Brussels 1050, Belgium","institution_ids":["https://openalex.org/I132053463","https://openalex.org/I13469542"]},{"raw_affiliation_string":"Machine Learning Group, Universit\u00e9 Libre de Bruxelles, Boulevard du Triomphe, CP 212, Brussels 1050, Belgium","institution_ids":["https://openalex.org/I132053463"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5003581663","display_name":"Tom Lenaerts","orcid":"https://orcid.org/0000-0003-3645-1455"},"institutions":[{"id":"https://openalex.org/I132053463","display_name":"Universit\u00e9 Libre de Bruxelles","ror":"https://ror.org/01r9htc13","country_code":"BE","type":"education","lineage":["https://openalex.org/I132053463"]},{"id":"https://openalex.org/I13469542","display_name":"Vrije Universiteit Brussel","ror":"https://ror.org/006e5kg04","country_code":"BE","type":"education","lineage":["https://openalex.org/I13469542"]}],"countries":["BE"],"is_corresponding":false,"raw_author_name":"Tom Lenaerts","raw_affiliation_strings":["Artificial Intelligence Laboratory, Vrije Universiteit Brussel, Pleinlaan 2, Brussels 1050, Belgium","Interuniversity Institute of Bioinformatics in Brussels, Universit\u00e9 Libre de Bruxelles-Vrije Universiteit Brussel, Boulevard du Triomphe, CP 263, Brussels 1050, Belgium","Machine Learning Group, Universit\u00e9 Libre de Bruxelles, Boulevard du Triomphe, CP 212, Brussels 1050, Belgium"],"raw_orcid":"https://orcid.org/0000-0003-3645-1455","affiliations":[{"raw_affiliation_string":"Artificial Intelligence Laboratory, Vrije Universiteit Brussel, Pleinlaan 2, Brussels 1050, Belgium","institution_ids":["https://openalex.org/I13469542"]},{"raw_affiliation_string":"Interuniversity Institute of Bioinformatics in Brussels, Universit\u00e9 Libre de Bruxelles-Vrije Universiteit Brussel, Boulevard du Triomphe, CP 263, Brussels 1050, Belgium","institution_ids":["https://openalex.org/I132053463","https://openalex.org/I13469542"]},{"raw_affiliation_string":"Machine Learning Group, Universit\u00e9 Libre de Bruxelles, Boulevard du Triomphe, CP 212, Brussels 1050, Belgium","institution_ids":["https://openalex.org/I132053463"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":7,"corresponding_author_ids":["https://openalex.org/A5047935814"],"corresponding_institution_ids":["https://openalex.org/I132053463","https://openalex.org/I13469542"],"apc_list":{"value":1415,"currency":"GBP","value_usd":1735},"apc_paid":{"value":1415,"currency":"GBP","value_usd":1735},"fwci":2.8587,"has_fulltext":true,"cited_by_count":34,"citation_normalized_percentile":{"value":0.91823196,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":90,"max":100},"biblio":{"volume":"2022","issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11710","display_name":"Biomedical Text Mining and Ontologies","score":0.3400000035762787,"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"}},"topics":[{"id":"https://openalex.org/T11710","display_name":"Biomedical Text Mining and Ontologies","score":0.3400000035762787,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.19760000705718994,"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/T11289","display_name":"Single-cell and spatial transcriptomics","score":0.016599999740719795,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.5793353319168091},{"id":"https://openalex.org/keywords/scaling","display_name":"Scaling","score":0.4718247354030609},{"id":"https://openalex.org/keywords/database","display_name":"Database","score":0.4160955846309662},{"id":"https://openalex.org/keywords/mathematics","display_name":"Mathematics","score":0.08115261793136597}],"concepts":[{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.5793353319168091},{"id":"https://openalex.org/C99844830","wikidata":"https://www.wikidata.org/wiki/Q102441924","display_name":"Scaling","level":2,"score":0.4718247354030609},{"id":"https://openalex.org/C77088390","wikidata":"https://www.wikidata.org/wiki/Q8513","display_name":"Database","level":1,"score":0.4160955846309662},{"id":"https://openalex.org/C33923547","wikidata":"https://www.wikidata.org/wiki/Q395","display_name":"Mathematics","level":0,"score":0.08115261793136597},{"id":"https://openalex.org/C2524010","wikidata":"https://www.wikidata.org/wiki/Q8087","display_name":"Geometry","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D012984","descriptor_name":"Software","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D012984","descriptor_name":"Software","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D012984","descriptor_name":"Software","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D016208","descriptor_name":"Databases, Factual","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016208","descriptor_name":"Databases, Factual","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016208","descriptor_name":"Databases, Factual","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018875","descriptor_name":"Vocabulary, Controlled","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D018875","descriptor_name":"Vocabulary, Controlled","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D018875","descriptor_name":"Vocabulary, Controlled","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":7,"locations":[{"id":"doi:10.1093/database/baac023","is_oa":true,"landing_page_url":"https://doi.org/10.1093/database/baac023","pdf_url":"https://academic.oup.com/database/article-pdf/doi/10.1093/database/baac023/43365771/baac023.pdf","source":{"id":"https://openalex.org/S4210201630","display_name":"Database","issn_l":"1758-0463","issn":["1758-0463"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311647","host_organization_name":"University of Oxford","host_organization_lineage":["https://openalex.org/P4310311647"],"host_organization_lineage_names":["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":"Database","raw_type":"journal-article"},{"id":"pmid:35411390","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/35411390","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":"Database : the journal of biological databases and curation","raw_type":null},{"id":"pmh:oai:vubissmart:VUBISSMART:2000:160100","is_oa":false,"landing_page_url":"https://biblio.vub.ac.be/vubir/(f0344afc-78f1-4f62-9232-45171be9423a).html","pdf_url":null,"source":{"id":"https://openalex.org/S4306402573","display_name":"VUBIR (Vrije Universiteit Brussel)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I13469542","host_organization_name":"Vrije Universiteit Brussel","host_organization_lineage":["https://openalex.org/I13469542"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":null,"raw_type":"publishedVersion"},{"id":"pmh:oai:dipot.ulb.ac.be:2013/342417","is_oa":true,"landing_page_url":"http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/342417","pdf_url":null,"source":{"id":"https://openalex.org/S4306401063","display_name":"D\u00e9p\u00f4t institutionnel de l'Universit\u00e9 libre de Bruxelles (Universit\u00e9 Libre de Bruxelles)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I132053463","host_organization_name":"Universit\u00e9 Libre de Bruxelles","host_organization_lineage":["https://openalex.org/I132053463"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Database, 2022","raw_type":"info:ulb-repo/semantics/openurl/article"},{"id":"pmh:oai:dipot.ulb.ac.be:2013/352609","is_oa":true,"landing_page_url":"http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/352609","pdf_url":null,"source":{"id":"https://openalex.org/S4306401063","display_name":"D\u00e9p\u00f4t institutionnel de l'Universit\u00e9 libre de Bruxelles (Universit\u00e9 Libre de Bruxelles)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I132053463","host_organization_name":"Universit\u00e9 Libre de Bruxelles","host_organization_lineage":["https://openalex.org/I132053463"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"info:ulb-repo/semantics/openurl/document"},{"id":"pmh:oai:pubmedcentral.nih.gov:9216476","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/9216476","pdf_url":null,"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":"Database (Oxford)","raw_type":"Text"},{"id":"pmh:oai:vubissmart:VUBISSMART:2000:184572","is_oa":false,"landing_page_url":null,"pdf_url":null,"source":{"id":"https://openalex.org/S4306402573","display_name":"VUBIR (Vrije Universiteit Brussel)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I13469542","host_organization_name":"Vrije Universiteit Brussel","host_organization_lineage":["https://openalex.org/I13469542"],"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":"article"}],"best_oa_location":{"id":"doi:10.1093/database/baac023","is_oa":true,"landing_page_url":"https://doi.org/10.1093/database/baac023","pdf_url":"https://academic.oup.com/database/article-pdf/doi/10.1093/database/baac023/43365771/baac023.pdf","source":{"id":"https://openalex.org/S4210201630","display_name":"Database","issn_l":"1758-0463","issn":["1758-0463"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311647","host_organization_name":"University of Oxford","host_organization_lineage":["https://openalex.org/P4310311647"],"host_organization_lineage_names":["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":"Database","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.49000000953674316,"id":"https://metadata.un.org/sdg/4","display_name":"Quality Education"}],"awards":[{"id":"https://openalex.org/G1219412175","display_name":null,"funder_award_id":"35276964","funder_id":"https://openalex.org/F4320321390","funder_display_name":"Fonds De La Recherche Scientifique - FNRS"},{"id":"https://openalex.org/G1382554650","display_name":null,"funder_award_id":"ICITY-RDI.BRU project [27.002.53.01.4524]","funder_id":"https://openalex.org/F4320335322","funder_display_name":"European Regional Development Fund"},{"id":"https://openalex.org/G223064752","display_name":null,"funder_award_id":"27.002.53.01.4524","funder_id":"https://openalex.org/F4320335322","funder_display_name":"European Regional Development Fund"},{"id":"https://openalex.org/G3635979023","display_name":null,"funder_award_id":"35276964","funder_id":"https://openalex.org/F4320335322","funder_display_name":"European Regional Development Fund"},{"id":"https://openalex.org/G3978218428","display_name":null,"funder_award_id":"40005602","funder_id":"https://openalex.org/F4320321390","funder_display_name":"Fonds De La Recherche Scientifique - FNRS"},{"id":"https://openalex.org/G4258879282","display_name":null,"funder_award_id":"Genome4Brussels [2020 RDIR 55b]","funder_id":"https://openalex.org/F4320322852","funder_display_name":"Innoviris"},{"id":"https://openalex.org/G4421244974","display_name":null,"funder_award_id":"Projet de Recherche [35276964]","funder_id":"https://openalex.org/F4320321390","funder_display_name":"Fonds De La Recherche Scientifique - FNRS"},{"id":"https://openalex.org/G5114189680","display_name":null,"funder_award_id":"Infrastructure project [I002819N]","funder_id":"https://openalex.org/F4320321730","funder_display_name":"Fonds Wetenschappelijk Onderzoek"},{"id":"https://openalex.org/G5634946813","display_name":null,"funder_award_id":"2014-2020","funder_id":"https://openalex.org/F4320335322","funder_display_name":"European Regional Development Fund"},{"id":"https://openalex.org/G645713469","display_name":null,"funder_award_id":"40008622","funder_id":"https://openalex.org/F4320334840","funder_display_name":"Fonds pour la Formation \u00e0 la Recherche dans l\u2019Industrie et dans l\u2019Agriculture"},{"id":"https://openalex.org/G6817462469","display_name":null,"funder_award_id":"40008622","funder_id":"https://openalex.org/F4320321390","funder_display_name":"Fonds De La Recherche Scientifique - FNRS"},{"id":"https://openalex.org/G7072270819","display_name":null,"funder_award_id":"2010235","funder_id":"https://openalex.org/F4320325905","funder_display_name":"Service Public de Wallonie"},{"id":"https://openalex.org/G8193570376","display_name":null,"funder_award_id":"2010235-ARIAC","funder_id":"https://openalex.org/F4320325905","funder_display_name":"Service Public de Wallonie"},{"id":"https://openalex.org/G8432427218","display_name":null,"funder_award_id":"2020 RDIR 55b","funder_id":"https://openalex.org/F4320322852","funder_display_name":"Innoviris"}],"funders":[{"id":"https://openalex.org/F4320321390","display_name":"Fonds De La Recherche Scientifique - FNRS","ror":"https://ror.org/03q83t159"},{"id":"https://openalex.org/F4320321730","display_name":"Fonds Wetenschappelijk Onderzoek","ror":"https://ror.org/03qtxy027"},{"id":"https://openalex.org/F4320322852","display_name":"Innoviris","ror":"https://ror.org/04af9zr29"},{"id":"https://openalex.org/F4320325905","display_name":"Service Public de Wallonie","ror":"https://ror.org/0215gxf82"},{"id":"https://openalex.org/F4320327336","display_name":"Vlaamse regering","ror":null},{"id":"https://openalex.org/F4320334840","display_name":"Fonds pour la Formation \u00e0 la Recherche dans l\u2019Industrie et dans l\u2019Agriculture","ror":"https://ror.org/03q83t159"},{"id":"https://openalex.org/F4320335322","display_name":"European Regional Development Fund","ror":"https://ror.org/00k4n6c32"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4220768028.pdf","grobid_xml":"https://content.openalex.org/works/W4220768028.grobid-xml"},"referenced_works_count":57,"referenced_works":["https://openalex.org/W1868492295","https://openalex.org/W1885358257","https://openalex.org/W1966360257","https://openalex.org/W1970413157","https://openalex.org/W1976421227","https://openalex.org/W1980740976","https://openalex.org/W1986277022","https://openalex.org/W1989277387","https://openalex.org/W2005191830","https://openalex.org/W2059145105","https://openalex.org/W2060130700","https://openalex.org/W2062699991","https://openalex.org/W2080735094","https://openalex.org/W2104549677","https://openalex.org/W2104953797","https://openalex.org/W2109616976","https://openalex.org/W2112300874","https://openalex.org/W2122732537","https://openalex.org/W2124879534","https://openalex.org/W2129793061","https://openalex.org/W2134845483","https://openalex.org/W2135703511","https://openalex.org/W2152562965","https://openalex.org/W2152565567","https://openalex.org/W2159482845","https://openalex.org/W2163499953","https://openalex.org/W2166070829","https://openalex.org/W2169567789","https://openalex.org/W2302501749","https://openalex.org/W2489911374","https://openalex.org/W2554687533","https://openalex.org/W2562565311","https://openalex.org/W2571366607","https://openalex.org/W2732446246","https://openalex.org/W2770026599","https://openalex.org/W2793453773","https://openalex.org/W2905452503","https://openalex.org/W2915769855","https://openalex.org/W2947236961","https://openalex.org/W2947802130","https://openalex.org/W2949598989","https://openalex.org/W2949857618","https://openalex.org/W2964351992","https://openalex.org/W3017059621","https://openalex.org/W3029661147","https://openalex.org/W3098280565","https://openalex.org/W3112386855","https://openalex.org/W3165955515","https://openalex.org/W3196806911","https://openalex.org/W3202422497","https://openalex.org/W4211082637","https://openalex.org/W4231254854","https://openalex.org/W4294216483","https://openalex.org/W6682601942","https://openalex.org/W6732043684","https://openalex.org/W6776305446","https://openalex.org/W6813094581"],"related_works":["https://openalex.org/W4391375266","https://openalex.org/W2899084033","https://openalex.org/W2748952813","https://openalex.org/W2390279801","https://openalex.org/W4391913857","https://openalex.org/W2358668433","https://openalex.org/W4396701345","https://openalex.org/W2376932109","https://openalex.org/W2001405890","https://openalex.org/W4396696052"],"abstract_inverted_index":{"Improving":[0],"the":[1,4,26,29,40,53,59,84,94,114,144,164,175,189],"understanding":[2],"of":[3,7,28,49,61,90,146,168,170,206],"oligogenic":[5,86,95,103,131,172,184],"nature":[6],"diseases":[8,67],"requires":[9],"access":[10,197],"to":[11,34,38,107,134,162,211],"high-quality,":[12],"well-curated":[13],"Findable,":[14],"Accessible,":[15],"Interoperable,":[16],"Reusable":[17],"(FAIR)":[18],"data.":[19],"Although":[20],"first":[21],"steps":[22],"were":[23,43],"taken":[24],"with":[25,46,119,138],"development":[27],"Digenic":[30],"Diseases":[31],"Database,":[32],"leading":[33],"novel":[35],"computational":[36],"advancements":[37],"assist":[39],"field,":[41],"these":[42],"also":[44],"linked":[45,106,133],"a":[47,71,79,98,135,139],"number":[48],"limitations,":[50],"for":[51,83,179],"instance,":[52],"ad":[54],"hoc":[55],"curation":[56,76],"protocol":[57,92],"and":[58,74,148,166,203,209],"inclusion":[60],"only":[62],"digenic":[63],"cases.":[64],"The":[65,88],"OLIgogenic":[66],"DAtabase":[68],"(OLIDA)":[69],"presents":[70],"novel,":[72],"transparent":[73],"rigorous":[75],"protocol,":[77],"introducing":[78],"confidence":[80,140],"scoring":[81],"mechanism":[82],"published":[85],"literature.":[87],"application":[89,200],"this":[91,156],"on":[93,143,182],"literature":[96,116],"generated":[97],"new":[99],"repository":[100],"containing":[101],"916":[102],"variant":[104,185],"combinations":[105],"159":[108],"distinct":[109],"diseases.":[110],"Information":[111],"extracted":[112],"from":[113,124],"scientific":[115],"is":[117,129],"supplemented":[118],"current":[120],"knowledge":[121],"support":[122],"obtained":[123],"public":[125],"databases.":[126],"Each":[127],"entry":[128],"an":[130],"combination":[132,173],"disease,":[136],"labelled":[137],"score":[141],"based":[142],"level":[145],"genetic":[147],"functional":[149],"evidence":[150],"that":[151],"supports":[152],"its":[153,199],"involvement":[154],"in":[155,174],"disease.":[157],"These":[158],"scores":[159],"allow":[160],"users":[161],"assess":[163],"relevance":[165],"proof":[167],"pathogenicity":[169],"each":[171],"database,":[176],"constituting":[177],"markers":[178],"reporting":[180],"improvements":[181],"disease-causing":[183],"combinations.":[186],"OLIDA":[187],"follows":[188],"FAIR":[190],"principles,":[191],"providing":[192],"detailed":[193],"documentation,":[194],"easy":[195],"data":[196],"through":[198],"programming":[201],"interface":[202],"website,":[204],"use":[205],"unique":[207],"identifiers":[208],"links":[210],"existing":[212],"ontologies.":[213],"DATABASE":[214],"URL:":[215],"https://olida.ibsquare.be.":[216]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":4},{"year":2024,"cited_by_count":19},{"year":2023,"cited_by_count":9},{"year":2022,"cited_by_count":1}],"updated_date":"2026-06-02T09:04:35.204637","created_date":"2025-10-10T00:00:00"}