{"id":"https://openalex.org/W4386585644","doi":"https://doi.org/10.1007/978-3-031-42448-9_8","title":"DAVI: A Dataset for Automatic Variant Interpretation","display_name":"DAVI: A Dataset for Automatic Variant Interpretation","publication_year":2023,"publication_date":"2023-01-01","ids":{"openalex":"https://openalex.org/W4386585644","doi":"https://doi.org/10.1007/978-3-031-42448-9_8"},"language":"en","primary_location":{"id":"doi:10.1007/978-3-031-42448-9_8","is_oa":false,"landing_page_url":"https://doi.org/10.1007/978-3-031-42448-9_8","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/A5092841275","display_name":"Francesca Longhin","orcid":"https://orcid.org/0009-0007-2833-3543"},"institutions":[{"id":"https://openalex.org/I138689650","display_name":"University of Padua","ror":"https://ror.org/00240q980","country_code":"IT","type":"education","lineage":["https://openalex.org/I138689650"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Francesca Longhin","raw_affiliation_strings":["Department of Information Engineering, University of Padova, 35131, Padova, Italy"],"raw_orcid":"https://orcid.org/0009-0007-2833-3543","affiliations":[{"raw_affiliation_string":"Department of Information Engineering, University of Padova, 35131, Padova, Italy","institution_ids":["https://openalex.org/I138689650"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5061667028","display_name":"Alessandro Guazzo","orcid":"https://orcid.org/0000-0001-5155-2567"},"institutions":[{"id":"https://openalex.org/I138689650","display_name":"University of Padua","ror":"https://ror.org/00240q980","country_code":"IT","type":"education","lineage":["https://openalex.org/I138689650"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Alessandro Guazzo","raw_affiliation_strings":["Department of Information Engineering, University of Padova, 35131, Padova, Italy"],"raw_orcid":"https://orcid.org/0000-0001-5155-2567","affiliations":[{"raw_affiliation_string":"Department of Information Engineering, University of Padova, 35131, Padova, Italy","institution_ids":["https://openalex.org/I138689650"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5013911767","display_name":"Enrico Longato","orcid":"https://orcid.org/0000-0001-5940-645X"},"institutions":[{"id":"https://openalex.org/I138689650","display_name":"University of Padua","ror":"https://ror.org/00240q980","country_code":"IT","type":"education","lineage":["https://openalex.org/I138689650"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Enrico Longato","raw_affiliation_strings":["Department of Information Engineering, University of Padova, 35131, Padova, Italy"],"raw_orcid":"https://orcid.org/0000-0001-5940-645X","affiliations":[{"raw_affiliation_string":"Department of Information Engineering, University of Padova, 35131, Padova, Italy","institution_ids":["https://openalex.org/I138689650"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5069843101","display_name":"Nicola Ferro","orcid":"https://orcid.org/0000-0001-9219-6239"},"institutions":[{"id":"https://openalex.org/I138689650","display_name":"University of Padua","ror":"https://ror.org/00240q980","country_code":"IT","type":"education","lineage":["https://openalex.org/I138689650"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Nicola Ferro","raw_affiliation_strings":["Department of Information Engineering, University of Padova, 35131, Padova, Italy","University of Padua, Padova, Italy"],"raw_orcid":"https://orcid.org/0000-0001-9219-6239","affiliations":[{"raw_affiliation_string":"Department of Information Engineering, University of Padova, 35131, Padova, Italy","institution_ids":["https://openalex.org/I138689650"]},{"raw_affiliation_string":"University of Padua, Padova, Italy","institution_ids":["https://openalex.org/I138689650"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5077821068","display_name":"Barbara Di Camillo","orcid":"https://orcid.org/0000-0001-8415-4688"},"institutions":[{"id":"https://openalex.org/I138689650","display_name":"University of Padua","ror":"https://ror.org/00240q980","country_code":"IT","type":"education","lineage":["https://openalex.org/I138689650"]}],"countries":["IT"],"is_corresponding":true,"raw_author_name":"Barbara Di Camillo","raw_affiliation_strings":["Department of Comparative Biomedicine and Food Science, University of Padova, 35020 , Legnaro, PD, Italy","Department of Information Engineering, University of Padova, 35131, Padova, Italy"],"raw_orcid":"https://orcid.org/0000-0001-8415-4688","affiliations":[{"raw_affiliation_string":"Department of Comparative Biomedicine and Food Science, University of Padova, 35020 , Legnaro, PD, Italy","institution_ids":["https://openalex.org/I138689650"]},{"raw_affiliation_string":"Department of Information Engineering, University of Padova, 35131, Padova, Italy","institution_ids":["https://openalex.org/I138689650"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5077821068"],"corresponding_institution_ids":["https://openalex.org/I138689650"],"apc_list":{"value":5000,"currency":"EUR","value_usd":5392},"apc_paid":null,"fwci":null,"has_fulltext":false,"cited_by_count":1,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":"85","last_page":"96"},"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":0.9962999820709229,"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":0.9761999845504761,"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":0.7577917575836182},{"id":"https://openalex.org/keywords/pathogenicity","display_name":"Pathogenicity","score":0.5566493272781372},{"id":"https://openalex.org/keywords/interpretation","display_name":"Interpretation (philosophy)","score":0.5440967679023743},{"id":"https://openalex.org/keywords/identification","display_name":"Identification (biology)","score":0.538611650466919},{"id":"https://openalex.org/keywords/representation","display_name":"Representation (politics)","score":0.5056066513061523},{"id":"https://openalex.org/keywords/genetic-variants","display_name":"Genetic variants","score":0.4978771209716797},{"id":"https://openalex.org/keywords/artificial-intelligence","display_name":"Artificial intelligence","score":0.46889036893844604},{"id":"https://openalex.org/keywords/machine-learning","display_name":"Machine learning","score":0.4506087005138397},{"id":"https://openalex.org/keywords/logistic-regression","display_name":"Logistic regression","score":0.41041380167007446},{"id":"https://openalex.org/keywords/information-retrieval","display_name":"Information retrieval","score":0.36379674077033997},{"id":"https://openalex.org/keywords/data-mining","display_name":"Data mining","score":0.36064255237579346},{"id":"https://openalex.org/keywords/natural-language-processing","display_name":"Natural language processing","score":0.3377012014389038},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.14454957842826843},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.13083091378211975},{"id":"https://openalex.org/keywords/programming-language","display_name":"Programming language","score":0.1057167649269104},{"id":"https://openalex.org/keywords/genotype","display_name":"Genotype","score":0.07249563932418823}],"concepts":[{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.7577917575836182},{"id":"https://openalex.org/C64502627","wikidata":"https://www.wikidata.org/wiki/Q170065","display_name":"Pathogenicity","level":2,"score":0.5566493272781372},{"id":"https://openalex.org/C527412718","wikidata":"https://www.wikidata.org/wiki/Q855395","display_name":"Interpretation (philosophy)","level":2,"score":0.5440967679023743},{"id":"https://openalex.org/C116834253","wikidata":"https://www.wikidata.org/wiki/Q2039217","display_name":"Identification (biology)","level":2,"score":0.538611650466919},{"id":"https://openalex.org/C2776359362","wikidata":"https://www.wikidata.org/wiki/Q2145286","display_name":"Representation (politics)","level":3,"score":0.5056066513061523},{"id":"https://openalex.org/C2993967602","wikidata":"https://www.wikidata.org/wiki/Q5532932","display_name":"Genetic variants","level":4,"score":0.4978771209716797},{"id":"https://openalex.org/C154945302","wikidata":"https://www.wikidata.org/wiki/Q11660","display_name":"Artificial intelligence","level":1,"score":0.46889036893844604},{"id":"https://openalex.org/C119857082","wikidata":"https://www.wikidata.org/wiki/Q2539","display_name":"Machine learning","level":1,"score":0.4506087005138397},{"id":"https://openalex.org/C151956035","wikidata":"https://www.wikidata.org/wiki/Q1132755","display_name":"Logistic regression","level":2,"score":0.41041380167007446},{"id":"https://openalex.org/C23123220","wikidata":"https://www.wikidata.org/wiki/Q816826","display_name":"Information retrieval","level":1,"score":0.36379674077033997},{"id":"https://openalex.org/C124101348","wikidata":"https://www.wikidata.org/wiki/Q172491","display_name":"Data mining","level":1,"score":0.36064255237579346},{"id":"https://openalex.org/C204321447","wikidata":"https://www.wikidata.org/wiki/Q30642","display_name":"Natural language processing","level":1,"score":0.3377012014389038},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.14454957842826843},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.13083091378211975},{"id":"https://openalex.org/C199360897","wikidata":"https://www.wikidata.org/wiki/Q9143","display_name":"Programming language","level":1,"score":0.1057167649269104},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.07249563932418823},{"id":"https://openalex.org/C59822182","wikidata":"https://www.wikidata.org/wiki/Q441","display_name":"Botany","level":1,"score":0.0},{"id":"https://openalex.org/C199539241","wikidata":"https://www.wikidata.org/wiki/Q7748","display_name":"Law","level":1,"score":0.0},{"id":"https://openalex.org/C17744445","wikidata":"https://www.wikidata.org/wiki/Q36442","display_name":"Political science","level":0,"score":0.0},{"id":"https://openalex.org/C89423630","wikidata":"https://www.wikidata.org/wiki/Q7193","display_name":"Microbiology","level":1,"score":0.0},{"id":"https://openalex.org/C94625758","wikidata":"https://www.wikidata.org/wiki/Q7163","display_name":"Politics","level":2,"score":0.0},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.0}],"mesh":[],"locations_count":2,"locations":[{"id":"doi:10.1007/978-3-031-42448-9_8","is_oa":false,"landing_page_url":"https://doi.org/10.1007/978-3-031-42448-9_8","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"},{"id":"pmh:oai:www.research.unipd.it:11577/3506573","is_oa":false,"landing_page_url":"https://hdl.handle.net/11577/3506573","pdf_url":null,"source":{"id":"https://openalex.org/S4306402547","display_name":"Padua Research Archive (University of Padova)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I138689650","host_organization_name":"University of Padua","host_organization_lineage":["https://openalex.org/I138689650"],"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":"info:eu-repo/semantics/conferenceObject"}],"best_oa_location":null,"sustainable_development_goals":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":16,"referenced_works":["https://openalex.org/W1984068087","https://openalex.org/W1992223383","https://openalex.org/W2051978340","https://openalex.org/W2309021002","https://openalex.org/W2356454710","https://openalex.org/W2417483443","https://openalex.org/W2557981253","https://openalex.org/W2768480906","https://openalex.org/W2810664395","https://openalex.org/W3000274722","https://openalex.org/W3047960255","https://openalex.org/W3055630079","https://openalex.org/W3101603399","https://openalex.org/W4248083651","https://openalex.org/W4399545985","https://openalex.org/W6675354045"],"related_works":["https://openalex.org/W4313320911","https://openalex.org/W4327743144","https://openalex.org/W4245077728","https://openalex.org/W2607424049","https://openalex.org/W4390922876","https://openalex.org/W3183204001","https://openalex.org/W4206302830","https://openalex.org/W2185941092","https://openalex.org/W4386782890","https://openalex.org/W3210948575"],"abstract_inverted_index":null,"counts_by_year":[{"year":2024,"cited_by_count":1}],"updated_date":"2026-07-14T23:27:15.235271","created_date":"2025-10-10T00:00:00"}