{"id":"https://openalex.org/W2951331042","doi":"https://doi.org/10.1007/978-3-030-21642-9_15","title":"A Rule-Based Expert System for Automatic Implementation of Somatic Variant Clinical Interpretation Guidelines","display_name":"A Rule-Based Expert System for Automatic Implementation of Somatic Variant Clinical Interpretation Guidelines","publication_year":2019,"publication_date":"2019-01-01","ids":{"openalex":"https://openalex.org/W2951331042","doi":"https://doi.org/10.1007/978-3-030-21642-9_15","mag":"2951331042"},"language":"en","primary_location":{"id":"doi:10.1007/978-3-030-21642-9_15","is_oa":false,"landing_page_url":"https://doi.org/10.1007/978-3-030-21642-9_15","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":"book-chapter","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/A5044714123","display_name":"Giovanna Nicora","orcid":"https://orcid.org/0000-0001-7007-0862"},"institutions":[{"id":"https://openalex.org/I25217355","display_name":"University of Pavia","ror":"https://ror.org/00s6t1f81","country_code":"IT","type":"education","lineage":["https://openalex.org/I25217355"]}],"countries":["IT"],"is_corresponding":true,"raw_author_name":"Giovanna Nicora","raw_affiliation_strings":["Department of Electrical, Computer and Biomedical Engineering, University of Pavia, Via Ferrata 1, 27100, Pavia, Italy"],"raw_orcid":"https://orcid.org/0000-0001-7007-0862","affiliations":[{"raw_affiliation_string":"Department of Electrical, Computer and Biomedical Engineering, University of Pavia, Via Ferrata 1, 27100, Pavia, Italy","institution_ids":["https://openalex.org/I25217355"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5076899663","display_name":"Ivan Limongelli","orcid":"https://orcid.org/0000-0002-9781-2974"},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Ivan Limongelli","raw_affiliation_strings":["enGenome S.r.l, Via Ferrata 1, 27100, Pavia, Italy"],"raw_orcid":"https://orcid.org/0000-0002-9781-2974","affiliations":[{"raw_affiliation_string":"enGenome S.r.l, Via Ferrata 1, 27100, Pavia, Italy","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5016450765","display_name":"Riccardo Cova","orcid":null},"institutions":[{"id":"https://openalex.org/I25217355","display_name":"University of Pavia","ror":"https://ror.org/00s6t1f81","country_code":"IT","type":"education","lineage":["https://openalex.org/I25217355"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Riccardo Cova","raw_affiliation_strings":["Department of Electrical, Computer and Biomedical Engineering, University of Pavia, Via Ferrata 1, 27100, Pavia, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Electrical, Computer and Biomedical Engineering, University of Pavia, Via Ferrata 1, 27100, Pavia, Italy","institution_ids":["https://openalex.org/I25217355"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5090912200","display_name":"Matteo Giovanni Della Porta","orcid":"https://orcid.org/0000-0002-6915-5970"},"institutions":[{"id":"https://openalex.org/I1339471597","display_name":"Humanitas University","ror":"https://ror.org/020dggs04","country_code":"IT","type":"education","lineage":["https://openalex.org/I1339471597"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Matteo Giovanni Della Porta","raw_affiliation_strings":["Cancer Center, Humanitas Research Hospital, Humanitas University, Via Alessandro Manzoni, 56, 20089, Rozzano, MI, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cancer Center, Humanitas Research Hospital, Humanitas University, Via Alessandro Manzoni, 56, 20089, Rozzano, MI, Italy","institution_ids":["https://openalex.org/I1339471597"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5072513476","display_name":"Luca Malcovati","orcid":"https://orcid.org/0000-0002-1460-1611"},"institutions":[{"id":"https://openalex.org/I4210151645","display_name":"Policlinico San Matteo Fondazione","ror":"https://ror.org/05w1q1c88","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210151645","https://openalex.org/I4210153126"]},{"id":"https://openalex.org/I4210153126","display_name":"Istituti di Ricovero e Cura a Carattere Scientifico","ror":"https://ror.org/04tfzc498","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210153126"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Luca Malcovati","raw_affiliation_strings":["Department of Hematology and Oncology, IRCCS Policlinico San Matteo, V.le Golgi, 19, 27100, Pavia, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Hematology and Oncology, IRCCS Policlinico San Matteo, V.le Golgi, 19, 27100, Pavia, Italy","institution_ids":["https://openalex.org/I4210151645","https://openalex.org/I4210153126"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5050011235","display_name":"Mario Cazzola","orcid":"https://orcid.org/0000-0001-6984-8817"},"institutions":[{"id":"https://openalex.org/I4210151645","display_name":"Policlinico San Matteo Fondazione","ror":"https://ror.org/05w1q1c88","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210151645","https://openalex.org/I4210153126"]},{"id":"https://openalex.org/I4210153126","display_name":"Istituti di Ricovero e Cura a Carattere Scientifico","ror":"https://ror.org/04tfzc498","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210153126"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Mario Cazzola","raw_affiliation_strings":["Department of Hematology and Oncology, IRCCS Policlinico San Matteo, V.le Golgi, 19, 27100, Pavia, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Hematology and Oncology, IRCCS Policlinico San Matteo, V.le Golgi, 19, 27100, Pavia, Italy","institution_ids":["https://openalex.org/I4210151645","https://openalex.org/I4210153126"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5050932220","display_name":"Riccardo Bellazzi","orcid":"https://orcid.org/0000-0002-6974-9808"},"institutions":[{"id":"https://openalex.org/I25217355","display_name":"University of Pavia","ror":"https://ror.org/00s6t1f81","country_code":"IT","type":"education","lineage":["https://openalex.org/I25217355"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Riccardo Bellazzi","raw_affiliation_strings":["Department of Electrical, Computer and Biomedical Engineering, University of Pavia, Via Ferrata 1, 27100, Pavia, Italy"],"raw_orcid":"https://orcid.org/0000-0002-6974-9808","affiliations":[{"raw_affiliation_string":"Department of Electrical, Computer and Biomedical Engineering, University of Pavia, Via Ferrata 1, 27100, Pavia, Italy","institution_ids":["https://openalex.org/I25217355"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":7,"corresponding_author_ids":["https://openalex.org/A5044714123"],"corresponding_institution_ids":["https://openalex.org/I25217355"],"apc_list":{"value":5000,"currency":"EUR","value_usd":5392},"apc_paid":null,"fwci":0.3239,"has_fulltext":false,"cited_by_count":2,"citation_normalized_percentile":{"value":0.58203158,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":94},"biblio":{"volume":null,"issue":null,"first_page":"114","last_page":"119"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11710","display_name":"Biomedical Text Mining and Ontologies","score":0.994700014591217,"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":0.994700014591217,"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/T11287","display_name":"Cancer Genomics and Diagnostics","score":0.9933000206947327,"subfield":{"id":"https://openalex.org/subfields/1306","display_name":"Cancer Research"},"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":0.9860000014305115,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.7231559753417969},{"id":"https://openalex.org/keywords/python","display_name":"Python (programming language)","score":0.6284483671188354},{"id":"https://openalex.org/keywords/expert-system","display_name":"Expert system","score":0.5246919989585876},{"id":"https://openalex.org/keywords/interpretation","display_name":"Interpretation (philosophy)","score":0.5037090182304382},{"id":"https://openalex.org/keywords/artificial-intelligence","display_name":"Artificial intelligence","score":0.406313419342041},{"id":"https://openalex.org/keywords/machine-learning","display_name":"Machine learning","score":0.40527474880218506},{"id":"https://openalex.org/keywords/software-engineering","display_name":"Software engineering","score":0.36610203981399536},{"id":"https://openalex.org/keywords/data-mining","display_name":"Data mining","score":0.32512933015823364},{"id":"https://openalex.org/keywords/programming-language","display_name":"Programming language","score":0.20024624466896057}],"concepts":[{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.7231559753417969},{"id":"https://openalex.org/C519991488","wikidata":"https://www.wikidata.org/wiki/Q28865","display_name":"Python (programming language)","level":2,"score":0.6284483671188354},{"id":"https://openalex.org/C58328972","wikidata":"https://www.wikidata.org/wiki/Q184609","display_name":"Expert system","level":2,"score":0.5246919989585876},{"id":"https://openalex.org/C527412718","wikidata":"https://www.wikidata.org/wiki/Q855395","display_name":"Interpretation (philosophy)","level":2,"score":0.5037090182304382},{"id":"https://openalex.org/C154945302","wikidata":"https://www.wikidata.org/wiki/Q11660","display_name":"Artificial intelligence","level":1,"score":0.406313419342041},{"id":"https://openalex.org/C119857082","wikidata":"https://www.wikidata.org/wiki/Q2539","display_name":"Machine learning","level":1,"score":0.40527474880218506},{"id":"https://openalex.org/C115903868","wikidata":"https://www.wikidata.org/wiki/Q80993","display_name":"Software engineering","level":1,"score":0.36610203981399536},{"id":"https://openalex.org/C124101348","wikidata":"https://www.wikidata.org/wiki/Q172491","display_name":"Data mining","level":1,"score":0.32512933015823364},{"id":"https://openalex.org/C199360897","wikidata":"https://www.wikidata.org/wiki/Q9143","display_name":"Programming language","level":1,"score":0.20024624466896057}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1007/978-3-030-21642-9_15","is_oa":false,"landing_page_url":"https://doi.org/10.1007/978-3-030-21642-9_15","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":[{"score":0.7599999904632568,"display_name":"Peace, Justice and strong institutions","id":"https://metadata.un.org/sdg/16"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":10,"referenced_works":["https://openalex.org/W1993236149","https://openalex.org/W2116148009","https://openalex.org/W2526413677","https://openalex.org/W2548007551","https://openalex.org/W2558715006","https://openalex.org/W2566723262","https://openalex.org/W2583911935","https://openalex.org/W2614443510","https://openalex.org/W2810962524","https://openalex.org/W2949492942"],"related_works":["https://openalex.org/W2341492732","https://openalex.org/W3187193180","https://openalex.org/W106542691","https://openalex.org/W4287027380","https://openalex.org/W1699080303","https://openalex.org/W4297799326","https://openalex.org/W3116064965","https://openalex.org/W3193760048","https://openalex.org/W4285822516","https://openalex.org/W2505261959"],"abstract_inverted_index":null,"counts_by_year":[{"year":2023,"cited_by_count":1},{"year":2020,"cited_by_count":1}],"updated_date":"2025-11-06T03:46:38.306776","created_date":"2025-10-10T00:00:00"}
