{"id":"https://openalex.org/W2947236961","doi":"https://doi.org/10.1093/nar/gkz437","title":"ORVAL: a novel platform for the prediction and exploration of disease-causing oligogenic variant combinations","display_name":"ORVAL: a novel platform for the prediction and exploration of disease-causing oligogenic variant combinations","publication_year":2019,"publication_date":"2019-05-09","ids":{"openalex":"https://openalex.org/W2947236961","doi":"https://doi.org/10.1093/nar/gkz437","mag":"2947236961","pmid":"https://pubmed.ncbi.nlm.nih.gov/31147699"},"language":"en","primary_location":{"id":"doi:10.1093/nar/gkz437","is_oa":true,"landing_page_url":"https://doi.org/10.1093/nar/gkz437","pdf_url":"https://academic.oup.com/nar/article-pdf/47/W1/W93/28879802/gkz437.pdf","source":{"id":"https://openalex.org/S134668137","display_name":"Nucleic Acids Research","issn_l":"0305-1048","issn":["0305-1048","1362-4954","1362-4962"],"is_oa":true,"is_in_doaj":true,"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":"Nucleic Acids Research","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/nar/article-pdf/47/W1/W93/28879802/gkz437.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5081793262","display_name":"Alexandre Renaux","orcid":"https://orcid.org/0000-0002-4339-2791"},"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"]},{"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"]}],"countries":["BE"],"is_corresponding":true,"raw_author_name":"Alexandre Renaux","raw_affiliation_strings":["Artificial Intelligence lab, Vrije Universiteit Brussel, 1050 Brussels, Belgium","Interuniversity Institute of Bioinformatics in Brussels, Universit\u00e9 Libre de Bruxelles-Vrije Universiteit Brussel, 1050 Brussels, Belgium","Machine Learning Group, Universit\u00e9 Libre de Bruxelles, 1050 Brussels, Belgium"],"affiliations":[{"raw_affiliation_string":"Artificial Intelligence lab, Vrije Universiteit Brussel, 1050 Brussels, Belgium","institution_ids":["https://openalex.org/I13469542"]},{"raw_affiliation_string":"Interuniversity Institute of Bioinformatics in Brussels, Universit\u00e9 Libre de Bruxelles-Vrije Universiteit Brussel, 1050 Brussels, Belgium","institution_ids":["https://openalex.org/I132053463","https://openalex.org/I13469542"]},{"raw_affiliation_string":"Machine Learning Group, Universit\u00e9 Libre de Bruxelles, 1050 Brussels, Belgium","institution_ids":["https://openalex.org/I132053463"]}]},{"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/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/I132053463","display_name":"Universit\u00e9 Libre de Bruxelles","ror":"https://ror.org/01r9htc13","country_code":"BE","type":"education","lineage":["https://openalex.org/I132053463"]}],"countries":["BE"],"is_corresponding":false,"raw_author_name":"Sofia Papadimitriou","raw_affiliation_strings":["Artificial Intelligence lab, Vrije Universiteit Brussel, 1050 Brussels, Belgium","Interuniversity Institute of Bioinformatics in Brussels, Universit\u00e9 Libre de Bruxelles-Vrije Universiteit Brussel, 1050 Brussels, Belgium","Machine Learning Group, Universit\u00e9 Libre de Bruxelles, 1050 Brussels, Belgium"],"affiliations":[{"raw_affiliation_string":"Artificial Intelligence lab, Vrije Universiteit Brussel, 1050 Brussels, Belgium","institution_ids":["https://openalex.org/I13469542"]},{"raw_affiliation_string":"Interuniversity Institute of Bioinformatics in Brussels, Universit\u00e9 Libre de Bruxelles-Vrije Universiteit Brussel, 1050 Brussels, Belgium","institution_ids":["https://openalex.org/I132053463","https://openalex.org/I13469542"]},{"raw_affiliation_string":"Machine Learning Group, Universit\u00e9 Libre de Bruxelles, 1050 Brussels, Belgium","institution_ids":["https://openalex.org/I132053463"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5014199966","display_name":"Nassim Versbraegen","orcid":"https://orcid.org/0000-0002-1881-4809"},"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"]},{"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"]}],"countries":["BE"],"is_corresponding":false,"raw_author_name":"Nassim Versbraegen","raw_affiliation_strings":["Interuniversity Institute of Bioinformatics in Brussels, Universit\u00e9 Libre de Bruxelles-Vrije Universiteit Brussel, 1050 Brussels, Belgium","Machine Learning Group, Universit\u00e9 Libre de Bruxelles, 1050 Brussels, Belgium"],"affiliations":[{"raw_affiliation_string":"Interuniversity Institute of Bioinformatics in Brussels, Universit\u00e9 Libre de Bruxelles-Vrije Universiteit Brussel, 1050 Brussels, Belgium","institution_ids":["https://openalex.org/I132053463","https://openalex.org/I13469542"]},{"raw_affiliation_string":"Machine Learning Group, Universit\u00e9 Libre de Bruxelles, 1050 Brussels, Belgium","institution_ids":["https://openalex.org/I132053463"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5047935814","display_name":"Charlotte Nachtegael","orcid":"https://orcid.org/0000-0002-5034-8975"},"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"]},{"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"]}],"countries":["BE"],"is_corresponding":false,"raw_author_name":"Charlotte Nachtegael","raw_affiliation_strings":["Interuniversity Institute of Bioinformatics in Brussels, Universit\u00e9 Libre de Bruxelles-Vrije Universiteit Brussel, 1050 Brussels, Belgium","Machine Learning Group, Universit\u00e9 Libre de Bruxelles, 1050 Brussels, Belgium"],"affiliations":[{"raw_affiliation_string":"Interuniversity Institute of Bioinformatics in Brussels, Universit\u00e9 Libre de Bruxelles-Vrije Universiteit Brussel, 1050 Brussels, Belgium","institution_ids":["https://openalex.org/I132053463","https://openalex.org/I13469542"]},{"raw_affiliation_string":"Machine Learning Group, Universit\u00e9 Libre de Bruxelles, 1050 Brussels, Belgium","institution_ids":["https://openalex.org/I132053463"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5016158400","display_name":"Simon Boutry","orcid":"https://orcid.org/0000-0002-3214-2981"},"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"]},{"id":"https://openalex.org/I4210114657","display_name":"de Duve Institute","ror":"https://ror.org/022em3k58","country_code":"BE","type":"facility","lineage":["https://openalex.org/I4210114657"]},{"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"]}],"countries":["BE"],"is_corresponding":false,"raw_author_name":"Simon Boutry","raw_affiliation_strings":["Interuniversity Institute of Bioinformatics in Brussels, Universit\u00e9 Libre de Bruxelles-Vrije Universiteit Brussel, 1050 Brussels, Belgium","Laboratory of Human Molecular Genetics, de Duve Institute, UCLouvain, 1200 Brussels, Belgium"],"affiliations":[{"raw_affiliation_string":"Interuniversity Institute of Bioinformatics in Brussels, Universit\u00e9 Libre de Bruxelles-Vrije Universiteit Brussel, 1050 Brussels, Belgium","institution_ids":["https://openalex.org/I132053463","https://openalex.org/I13469542"]},{"raw_affiliation_string":"Laboratory of Human Molecular Genetics, de Duve Institute, UCLouvain, 1200 Brussels, Belgium","institution_ids":["https://openalex.org/I4210114657"]}]},{"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 lab, Vrije Universiteit Brussel, 1050 Brussels, Belgium","Interuniversity Institute of Bioinformatics in Brussels, Universit\u00e9 Libre de Bruxelles-Vrije Universiteit Brussel, 1050 Brussels, Belgium"],"affiliations":[{"raw_affiliation_string":"Artificial Intelligence lab, Vrije Universiteit Brussel, 1050 Brussels, Belgium","institution_ids":["https://openalex.org/I13469542"]},{"raw_affiliation_string":"Interuniversity Institute of Bioinformatics in Brussels, Universit\u00e9 Libre de Bruxelles-Vrije Universiteit Brussel, 1050 Brussels, Belgium","institution_ids":["https://openalex.org/I132053463","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/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/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/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, 1070 Brussels, Belgium","H\u00f4pital Universitaire des Enfants Reine Fabiola, 1020 Brussels, Belgium","Interuniversity Institute of Bioinformatics in Brussels, Universit\u00e9 Libre de Bruxelles-Vrije Universiteit Brussel, 1050 Brussels, Belgium"],"affiliations":[{"raw_affiliation_string":"Center of Human Genetics, H\u00f4pital Erasme, 1070 Brussels, Belgium","institution_ids":["https://openalex.org/I2802054198"]},{"raw_affiliation_string":"H\u00f4pital Universitaire des Enfants Reine Fabiola, 1020 Brussels, Belgium","institution_ids":["https://openalex.org/I4210108467"]},{"raw_affiliation_string":"Interuniversity Institute of Bioinformatics in Brussels, Universit\u00e9 Libre de Bruxelles-Vrije Universiteit Brussel, 1050 Brussels, Belgium","institution_ids":["https://openalex.org/I132053463","https://openalex.org/I13469542"]}]},{"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 lab, Vrije Universiteit Brussel, 1050 Brussels, Belgium","Interuniversity Institute of Bioinformatics in Brussels, Universit\u00e9 Libre de Bruxelles-Vrije Universiteit Brussel, 1050 Brussels, Belgium","Machine Learning Group, Universit\u00e9 Libre de Bruxelles, 1050 Brussels, Belgium"],"affiliations":[{"raw_affiliation_string":"Artificial Intelligence lab, Vrije Universiteit Brussel, 1050 Brussels, Belgium","institution_ids":["https://openalex.org/I13469542"]},{"raw_affiliation_string":"Interuniversity Institute of Bioinformatics in Brussels, Universit\u00e9 Libre de Bruxelles-Vrije Universiteit Brussel, 1050 Brussels, Belgium","institution_ids":["https://openalex.org/I132053463","https://openalex.org/I13469542"]},{"raw_affiliation_string":"Machine Learning Group, Universit\u00e9 Libre de Bruxelles, 1050 Brussels, Belgium","institution_ids":["https://openalex.org/I132053463"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":8,"corresponding_author_ids":["https://openalex.org/A5081793262"],"corresponding_institution_ids":["https://openalex.org/I132053463","https://openalex.org/I13469542"],"apc_list":{"value":3630,"currency":"USD","value_usd":3630},"apc_paid":{"value":3630,"currency":"USD","value_usd":3630},"fwci":6.0864,"has_fulltext":false,"cited_by_count":84,"citation_normalized_percentile":{"value":0.9664616,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":97,"max":100},"biblio":{"volume":"47","issue":"W1","first_page":"W93","last_page":"W98"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.9976000189781189,"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":0.9976000189781189,"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":0.9887999892234802,"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/T10015","display_name":"Genomics and Phylogenetic Studies","score":0.9878000020980835,"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/biology","display_name":"Biology","score":0.898247480392456},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.5462862253189087},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.452053040266037}],"concepts":[{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.898247480392456},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.5462862253189087},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.452053040266037}],"mesh":[{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"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":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019295","descriptor_name":"Computational Biology","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019295","descriptor_name":"Computational Biology","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019295","descriptor_name":"Computational Biology","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020412","descriptor_name":"Multifactorial Inheritance","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020412","descriptor_name":"Multifactorial Inheritance","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020412","descriptor_name":"Multifactorial Inheritance","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D030342","descriptor_name":"Genetic Diseases, Inborn","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D030342","descriptor_name":"Genetic Diseases, Inborn","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D030342","descriptor_name":"Genetic Diseases, Inborn","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D030342","descriptor_name":"Genetic Diseases, Inborn","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D030342","descriptor_name":"Genetic Diseases, Inborn","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D030342","descriptor_name":"Genetic Diseases, Inborn","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false}],"locations_count":6,"locations":[{"id":"doi:10.1093/nar/gkz437","is_oa":true,"landing_page_url":"https://doi.org/10.1093/nar/gkz437","pdf_url":"https://academic.oup.com/nar/article-pdf/47/W1/W93/28879802/gkz437.pdf","source":{"id":"https://openalex.org/S134668137","display_name":"Nucleic Acids Research","issn_l":"0305-1048","issn":["0305-1048","1362-4954","1362-4962"],"is_oa":true,"is_in_doaj":true,"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":"Nucleic Acids Research","raw_type":"journal-article"},{"id":"pmid:31147699","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/31147699","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":"Nucleic acids research","raw_type":null},{"id":"pmh:oai:dipot.ulb.ac.be:2013/289958","is_oa":true,"landing_page_url":"http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/289958","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":"Nucleic acids research, 47 (W1","raw_type":"info:ulb-repo/semantics/openurl/article"},{"id":"pmh:oai:europepmc.org:5577280","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/6602484","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"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":null,"raw_type":"Text"},{"id":"pmh:oai:vubissmart:VUBISSMART:2000:122949","is_oa":false,"landing_page_url":"https://biblio.vub.ac.be/vubir/orval--a-novel-platform-for-the-prediction-and-exploration-of-diseasecausing-oligogenic-variant-combinations(852b1ad4-385d-4bce-8415-64a680048a22).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":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"article"},{"id":"pmh:oai:zenodo.org:4700562","is_oa":true,"landing_page_url":"https://zenodo.org/record/4700562","pdf_url":null,"source":{"id":"https://openalex.org/S4306400562","display_name":"Zenodo (CERN European Organization for Nuclear Research)","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I67311998","host_organization_name":"European Organization for Nuclear Research","host_organization_lineage":["https://openalex.org/I67311998"],"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":"","raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":{"id":"doi:10.1093/nar/gkz437","is_oa":true,"landing_page_url":"https://doi.org/10.1093/nar/gkz437","pdf_url":"https://academic.oup.com/nar/article-pdf/47/W1/W93/28879802/gkz437.pdf","source":{"id":"https://openalex.org/S134668137","display_name":"Nucleic Acids Research","issn_l":"0305-1048","issn":["0305-1048","1362-4954","1362-4962"],"is_oa":true,"is_in_doaj":true,"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":"Nucleic Acids Research","raw_type":"journal-article"},"sustainable_development_goals":[],"awards":[{"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"}],"funders":[{"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/W2947236961.pdf","grobid_xml":"https://content.openalex.org/works/W2947236961.grobid-xml"},"referenced_works_count":41,"referenced_works":["https://openalex.org/W1701211704","https://openalex.org/W1925054293","https://openalex.org/W1969018535","https://openalex.org/W1969974122","https://openalex.org/W1976162183","https://openalex.org/W1989277387","https://openalex.org/W2005191830","https://openalex.org/W2009405916","https://openalex.org/W2011582941","https://openalex.org/W2031942960","https://openalex.org/W2032315443","https://openalex.org/W2056782561","https://openalex.org/W2061596350","https://openalex.org/W2062699991","https://openalex.org/W2090247362","https://openalex.org/W2101412130","https://openalex.org/W2104953797","https://openalex.org/W2109616976","https://openalex.org/W2129793061","https://openalex.org/W2149992227","https://openalex.org/W2152565567","https://openalex.org/W2154139219","https://openalex.org/W2163480486","https://openalex.org/W2172541985","https://openalex.org/W2256016639","https://openalex.org/W2554687533","https://openalex.org/W2732446246","https://openalex.org/W2739513514","https://openalex.org/W2740819983","https://openalex.org/W2762248845","https://openalex.org/W2905452503","https://openalex.org/W2908160373","https://openalex.org/W2949598989","https://openalex.org/W2950862347","https://openalex.org/W2971758644","https://openalex.org/W3098280565","https://openalex.org/W4211082637","https://openalex.org/W4233120011","https://openalex.org/W4233698560","https://openalex.org/W4250359879","https://openalex.org/W6656179046"],"related_works":["https://openalex.org/W4391375266","https://openalex.org/W2082860237","https://openalex.org/W2119695867","https://openalex.org/W2130076355","https://openalex.org/W1990804418","https://openalex.org/W1993764875","https://openalex.org/W2046158694","https://openalex.org/W2788277189","https://openalex.org/W2013243191","https://openalex.org/W1971568933"],"abstract_inverted_index":{"A":[0],"tremendous":[1],"amount":[2],"of":[3,35,60,63,88,136,145,163],"DNA":[4],"sequencing":[5],"data":[6],"is":[7,45,74,153,190],"being":[8],"produced":[9],"around":[10],"the":[11,14,21,33,49,58,61,146,154,169,184],"world":[12],"with":[13,117,168],"ambition":[15,171],"to":[16,42,47,80,98,160,172],"capture":[17],"in":[18,38,93,101,174],"more":[19],"detail":[20],"mechanisms":[22],"underlying":[23],"human":[24],"diseases.":[25,65],"While":[26],"numerous":[27],"bioinformatics":[28],"tools":[29],"exist":[30],"that":[31,180],"allow":[32],"discovery":[34,59],"causal":[36],"variants":[37,100],"Mendelian":[39],"diseases,":[40],"little":[41],"no":[43],"support":[44],"provided":[46],"do":[48],"same":[50],"for":[51,57,70,112,178],"variant":[52,91,114,166],"combinations,":[53],"an":[54,78],"essential":[55],"task":[56],"causes":[62,177],"oligogenic":[64,176],"ORVAL":[66,152,189],"(the":[67],"Oligogenic":[68],"Resource":[69],"Variant":[71],"AnaLysis),":[72],"which":[73],"presented":[75],"here,":[76],"provides":[77],"answer":[79],"this":[81],"problem":[82],"by":[83],"focusing":[84],"on":[85,183],"generating":[86],"networks":[87,162],"candidate":[89,164],"pathogenic":[90,128,137,165],"combinations":[92,167],"gene":[94,129,138],"pairs,":[95,139],"as":[96,127,140,142],"opposed":[97],"isolated":[99],"unique":[102],"genes.":[103],"This":[104],"online":[105],"platform":[106,158],"integrates":[107],"innovative":[108],"machine":[109],"learning":[110],"methods":[111],"combinatorial":[113],"pathogenicity":[115],"prediction":[116],"visualization":[118],"techniques,":[119],"offering":[120],"several":[121],"interactive":[122],"and":[123,130,149],"exploratory":[124],"tools,":[125],"such":[126],"protein":[131],"interaction":[132],"networks,":[133],"a":[134],"ranking":[135],"well":[141],"visual":[143],"mappings":[144],"cellular":[147],"location":[148],"pathway":[150],"information.":[151],"first":[155],"web-based":[156],"exploration":[157],"dedicated":[159],"identifying":[161],"sole":[170],"help":[173],"uncovering":[175],"patients":[179],"cannot":[181],"rely":[182],"classical":[185],"disease":[186],"analysis":[187],"tools.":[188],"available":[191],"at":[192],"https://orval.ibsquare.be.":[193]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":8},{"year":2024,"cited_by_count":31},{"year":2023,"cited_by_count":11},{"year":2022,"cited_by_count":16},{"year":2021,"cited_by_count":9},{"year":2020,"cited_by_count":8}],"updated_date":"2026-03-20T23:20:44.827607","created_date":"2025-10-10T00:00:00"}