{"id":"https://openalex.org/W2245867558","doi":"https://doi.org/10.1007/978-3-319-16483-0_7","title":"Prediction of Human Gene - Phenotype Associations by Exploiting the Hierarchical Structure of the Human Phenotype Ontology","display_name":"Prediction of Human Gene - Phenotype Associations by Exploiting the Hierarchical Structure of the Human Phenotype Ontology","publication_year":2015,"publication_date":"2015-01-01","ids":{"openalex":"https://openalex.org/W2245867558","doi":"https://doi.org/10.1007/978-3-319-16483-0_7","mag":"2245867558"},"language":"en","primary_location":{"id":"doi:10.1007/978-3-319-16483-0_7","is_oa":false,"landing_page_url":"https://doi.org/10.1007/978-3-319-16483-0_7","pdf_url":null,"source":{"id":"https://openalex.org/S106296714","display_name":"Lecture notes in computer science","issn_l":"0302-9743","issn":["0302-9743","1611-3349"],"is_oa":false,"is_in_doaj":false,"is_core":true,"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"book series"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Lecture Notes in Computer Science","raw_type":"book-chapter"},"type":"conference-paper","indexed_in":["crossref"],"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/A5071444502","display_name":"Giorgio Valentini","orcid":"https://orcid.org/0000-0002-5694-3919"},"institutions":[{"id":"https://openalex.org/I189158943","display_name":"University of Milan","ror":"https://ror.org/00wjc7c48","country_code":"IT","type":"education","lineage":["https://openalex.org/I189158943"]}],"countries":["IT"],"is_corresponding":true,"raw_author_name":"Giorgio Valentini","raw_affiliation_strings":["AnacletoLab - DI, Dipartimento di Informatica, Universit\u00e0 degli Studi di Milano, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"AnacletoLab - DI, Dipartimento di Informatica, Universit\u00e0 degli Studi di Milano, Italy","institution_ids":["https://openalex.org/I189158943"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5047602412","display_name":"Sebastian K\u00f6hler","orcid":"https://orcid.org/0000-0002-5316-1399"},"institutions":[{"id":"https://openalex.org/I7877124","display_name":"Charit\u00e9 - Universit\u00e4tsmedizin Berlin","ror":"https://ror.org/001w7jn25","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I7877124"]}],"countries":["DE"],"is_corresponding":true,"raw_author_name":"Sebastian K\u00f6hler","raw_affiliation_strings":["Institut fur Medizinische Genetik und Humangenetik, Charit\u00e9 - Universitatsmedizin Berlin, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institut fur Medizinische Genetik und Humangenetik, Charit\u00e9 - Universitatsmedizin Berlin, Germany","institution_ids":["https://openalex.org/I7877124"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5049315524","display_name":"Matteo R\u00e9","orcid":"https://orcid.org/0000-0002-2907-2847"},"institutions":[{"id":"https://openalex.org/I189158943","display_name":"University of Milan","ror":"https://ror.org/00wjc7c48","country_code":"IT","type":"education","lineage":["https://openalex.org/I189158943"]}],"countries":["IT"],"is_corresponding":true,"raw_author_name":"Matteo Re","raw_affiliation_strings":["AnacletoLab - DI, Dipartimento di Informatica, Universit\u00e0 degli Studi di Milano, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"AnacletoLab - DI, Dipartimento di Informatica, Universit\u00e0 degli Studi di Milano, Italy","institution_ids":["https://openalex.org/I189158943"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5075065915","display_name":"Marco Notaro","orcid":"https://orcid.org/0000-0003-4309-2200"},"institutions":[{"id":"https://openalex.org/I189158943","display_name":"University of Milan","ror":"https://ror.org/00wjc7c48","country_code":"IT","type":"education","lineage":["https://openalex.org/I189158943"]}],"countries":["IT"],"is_corresponding":true,"raw_author_name":"Marco Notaro","raw_affiliation_strings":["Dipartimento di Bioscienze, Universit\u00e0 degli Studi di Milano, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Dipartimento di Bioscienze, Universit\u00e0 degli Studi di Milano, Italy","institution_ids":["https://openalex.org/I189158943"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5033225381","display_name":"Peter N. Robinson","orcid":"https://orcid.org/0000-0002-0736-9199"},"institutions":[{"id":"https://openalex.org/I75951250","display_name":"Freie Universit\u00e4t Berlin","ror":"https://ror.org/046ak2485","country_code":"DE","type":"education","lineage":["https://openalex.org/I75951250"]},{"id":"https://openalex.org/I7877124","display_name":"Charit\u00e9 - Universit\u00e4tsmedizin Berlin","ror":"https://ror.org/001w7jn25","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I7877124"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Peter N. Robinson","raw_affiliation_strings":["Institut fur Medizinische Genetik und Humangenetik, Charit\u00e9 - Universitatsmedizin Berlin, Germany","Institute of Bioinformatics, Department of Mathematics and Computer Science, Freie Universitat Berlin, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institut fur Medizinische Genetik und Humangenetik, Charit\u00e9 - Universitatsmedizin Berlin, Germany","institution_ids":["https://openalex.org/I7877124"]},{"raw_affiliation_string":"Institute of Bioinformatics, Department of Mathematics and Computer Science, Freie Universitat Berlin, Germany","institution_ids":["https://openalex.org/I75951250"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5047602412","https://openalex.org/A5049315524","https://openalex.org/A5071444502","https://openalex.org/A5075065915"],"corresponding_institution_ids":["https://openalex.org/I189158943","https://openalex.org/I7877124"],"apc_list":{"value":5000,"currency":"EUR","value_usd":5392},"apc_paid":null,"fwci":4.7082,"has_fulltext":false,"cited_by_count":5,"citation_normalized_percentile":{"value":0.94300116,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":90,"max":96},"biblio":{"volume":null,"issue":null,"first_page":"66","last_page":"77"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11710","display_name":"Biomedical Text Mining and Ontologies","score":0.9993000030517578,"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":0.9993000030517578,"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/T10887","display_name":"Bioinformatics and Genomic Networks","score":0.9980999827384949,"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/T12254","display_name":"Machine Learning in Bioinformatics","score":0.9864000082015991,"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/conceptualization","display_name":"Conceptualization","score":0.7027789354324341},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.6715999245643616},{"id":"https://openalex.org/keywords/directed-acyclic-graph","display_name":"Directed acyclic graph","score":0.6222661137580872},{"id":"https://openalex.org/keywords/phenotype","display_name":"Phenotype","score":0.5660094022750854},{"id":"https://openalex.org/keywords/a-priori-and-a-posteriori","display_name":"A priori and a posteriori","score":0.5312827825546265},{"id":"https://openalex.org/keywords/context","display_name":"Context (archaeology)","score":0.5259309411048889},{"id":"https://openalex.org/keywords/ontology","display_name":"Ontology","score":0.5208293199539185},{"id":"https://openalex.org/keywords/graph","display_name":"Graph","score":0.44708847999572754},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.4361107051372528},{"id":"https://openalex.org/keywords/hierarchical-database-model","display_name":"Hierarchical database model","score":0.41738513112068176},{"id":"https://openalex.org/keywords/data-mining","display_name":"Data mining","score":0.35185331106185913},{"id":"https://openalex.org/keywords/artificial-intelligence","display_name":"Artificial intelligence","score":0.3087342381477356},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.3014881908893585},{"id":"https://openalex.org/keywords/theoretical-computer-science","display_name":"Theoretical computer science","score":0.26829764246940613},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.2012314796447754},{"id":"https://openalex.org/keywords/algorithm","display_name":"Algorithm","score":0.17785632610321045},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.157408207654953}],"concepts":[{"id":"https://openalex.org/C90734943","wikidata":"https://www.wikidata.org/wiki/Q17008777","display_name":"Conceptualization","level":2,"score":0.7027789354324341},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.6715999245643616},{"id":"https://openalex.org/C74197172","wikidata":"https://www.wikidata.org/wiki/Q1195339","display_name":"Directed acyclic graph","level":2,"score":0.6222661137580872},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.5660094022750854},{"id":"https://openalex.org/C75553542","wikidata":"https://www.wikidata.org/wiki/Q178161","display_name":"A priori and a posteriori","level":2,"score":0.5312827825546265},{"id":"https://openalex.org/C2779343474","wikidata":"https://www.wikidata.org/wiki/Q3109175","display_name":"Context (archaeology)","level":2,"score":0.5259309411048889},{"id":"https://openalex.org/C25810664","wikidata":"https://www.wikidata.org/wiki/Q44325","display_name":"Ontology","level":2,"score":0.5208293199539185},{"id":"https://openalex.org/C132525143","wikidata":"https://www.wikidata.org/wiki/Q141488","display_name":"Graph","level":2,"score":0.44708847999572754},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.4361107051372528},{"id":"https://openalex.org/C144986985","wikidata":"https://www.wikidata.org/wiki/Q871236","display_name":"Hierarchical database model","level":2,"score":0.41738513112068176},{"id":"https://openalex.org/C124101348","wikidata":"https://www.wikidata.org/wiki/Q172491","display_name":"Data mining","level":1,"score":0.35185331106185913},{"id":"https://openalex.org/C154945302","wikidata":"https://www.wikidata.org/wiki/Q11660","display_name":"Artificial intelligence","level":1,"score":0.3087342381477356},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.3014881908893585},{"id":"https://openalex.org/C80444323","wikidata":"https://www.wikidata.org/wiki/Q2878974","display_name":"Theoretical computer science","level":1,"score":0.26829764246940613},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.2012314796447754},{"id":"https://openalex.org/C11413529","wikidata":"https://www.wikidata.org/wiki/Q8366","display_name":"Algorithm","level":1,"score":0.17785632610321045},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.157408207654953},{"id":"https://openalex.org/C111472728","wikidata":"https://www.wikidata.org/wiki/Q9471","display_name":"Epistemology","level":1,"score":0.0},{"id":"https://openalex.org/C151730666","wikidata":"https://www.wikidata.org/wiki/Q7205","display_name":"Paleontology","level":1,"score":0.0},{"id":"https://openalex.org/C138885662","wikidata":"https://www.wikidata.org/wiki/Q5891","display_name":"Philosophy","level":0,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1007/978-3-319-16483-0_7","is_oa":false,"landing_page_url":"https://doi.org/10.1007/978-3-319-16483-0_7","pdf_url":null,"source":{"id":"https://openalex.org/S106296714","display_name":"Lecture notes in computer science","issn_l":"0302-9743","issn":["0302-9743","1611-3349"],"is_oa":false,"is_in_doaj":false,"is_core":true,"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"book series"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Lecture Notes in Computer Science","raw_type":"book-chapter"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Quality Education","id":"https://metadata.un.org/sdg/4","score":0.47999998927116394}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":36,"referenced_works":["https://openalex.org/W1566952502","https://openalex.org/W1774304772","https://openalex.org/W1972881673","https://openalex.org/W1977922844","https://openalex.org/W2007955153","https://openalex.org/W2010894264","https://openalex.org/W2058539819","https://openalex.org/W2061453990","https://openalex.org/W2066531004","https://openalex.org/W2068177171","https://openalex.org/W2076743129","https://openalex.org/W2090247362","https://openalex.org/W2099182237","https://openalex.org/W2099946731","https://openalex.org/W2108892946","https://openalex.org/W2117243134","https://openalex.org/W2121509460","https://openalex.org/W2125118217","https://openalex.org/W2125806930","https://openalex.org/W2127861860","https://openalex.org/W2134092731","https://openalex.org/W2136410628","https://openalex.org/W2137360911","https://openalex.org/W2141885858","https://openalex.org/W2150766729","https://openalex.org/W2156386646","https://openalex.org/W2158115723","https://openalex.org/W2166699767","https://openalex.org/W2166985665","https://openalex.org/W2170282111","https://openalex.org/W2622581388","https://openalex.org/W2752885492","https://openalex.org/W2770983033","https://openalex.org/W3145128584","https://openalex.org/W4210323379","https://openalex.org/W4246219036"],"related_works":["https://openalex.org/W4362575170","https://openalex.org/W1532772865","https://openalex.org/W2531253623","https://openalex.org/W2984230149","https://openalex.org/W2112095637","https://openalex.org/W2237121679","https://openalex.org/W4390616414","https://openalex.org/W3212890177","https://openalex.org/W2006867289","https://openalex.org/W1188194610"],"abstract_inverted_index":null,"counts_by_year":[{"year":2019,"cited_by_count":1},{"year":2018,"cited_by_count":1},{"year":2017,"cited_by_count":2},{"year":2016,"cited_by_count":1}],"updated_date":"2026-08-04T08:18:43.703281","created_date":"2025-10-10T00:00:00"}