{"id":"https://openalex.org/W3198091063","doi":"https://doi.org/10.1007/978-3-030-86258-9_1","title":"Computational Methods for\u00a0the\u00a0Identification of Genetic Variants\u00a0in\u00a0Complex Diseases","display_name":"Computational Methods for\u00a0the\u00a0Identification of Genetic Variants\u00a0in\u00a0Complex Diseases","publication_year":2021,"publication_date":"2021-08-27","ids":{"openalex":"https://openalex.org/W3198091063","doi":"https://doi.org/10.1007/978-3-030-86258-9_1","mag":"3198091063"},"language":"en","primary_location":{"id":"doi:10.1007/978-3-030-86258-9_1","is_oa":false,"landing_page_url":"https://doi.org/10.1007/978-3-030-86258-9_1","pdf_url":null,"source":{"id":"https://openalex.org/S4210169156","display_name":"Lecture notes in networks and systems","issn_l":"2367-3370","issn":["2367-3370","2367-3389"],"is_oa":false,"is_in_doaj":false,"is_core":true,"host_organization":"https://openalex.org/P4310319972","host_organization_name":"Springer International Publishing","host_organization_lineage":["https://openalex.org/P4310319972","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer International Publishing","Springer Nature"],"type":"book series"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Lecture Notes in Networks and Systems","raw_type":"book-chapter"},"type":"conference-paper","indexed_in":["crossref"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://hdl.handle.net/1822/81105","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5036840599","display_name":"D\u00e9bora Antunes","orcid":null},"institutions":[{"id":"https://openalex.org/I99682543","display_name":"University of Minho","ror":"https://ror.org/037wpkx04","country_code":"PT","type":"education","lineage":["https://openalex.org/I99682543"]}],"countries":["PT"],"is_corresponding":false,"raw_author_name":"D\u00e9bora Antunes","raw_affiliation_strings":["Department of Informatics, University of Minho, Braga, Portugal"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Informatics, University of Minho, Braga, Portugal","institution_ids":["https://openalex.org/I99682543"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101681057","display_name":"Daniel Martins","orcid":"https://orcid.org/0000-0002-2490-5002"},"institutions":[{"id":"https://openalex.org/I76903346","display_name":"University of Coimbra","ror":"https://ror.org/04z8k9a98","country_code":"PT","type":"education","lineage":["https://openalex.org/I76903346"]}],"countries":["PT"],"is_corresponding":false,"raw_author_name":"Daniel Martins","raw_affiliation_strings":["CISUC, University of Coimbra, Coimbra, Portugal","CNC, University of Coimbra, Coimbra, Portugal"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"CISUC, University of Coimbra, Coimbra, Portugal","institution_ids":["https://openalex.org/I76903346"]},{"raw_affiliation_string":"CNC, University of Coimbra, Coimbra, Portugal","institution_ids":["https://openalex.org/I76903346"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5040386518","display_name":"Fernanda Brito Correia","orcid":"https://orcid.org/0000-0002-8330-1903"},"institutions":[{"id":"https://openalex.org/I293362453","display_name":"Polytechnic Institute of Coimbra","ror":"https://ror.org/01n8x4993","country_code":"PT","type":"education","lineage":["https://openalex.org/I293362453"]}],"countries":["PT"],"is_corresponding":false,"raw_author_name":"Fernanda Correia","raw_affiliation_strings":["ISEC, Polytechnic Institute of Coimbra, Coimbra, Portugal"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"ISEC, Polytechnic Institute of Coimbra, Coimbra, Portugal","institution_ids":["https://openalex.org/I293362453"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5040524717","display_name":"Miguel Rocha","orcid":"https://orcid.org/0000-0001-8439-8172"},"institutions":[{"id":"https://openalex.org/I99682543","display_name":"University of Minho","ror":"https://ror.org/037wpkx04","country_code":"PT","type":"education","lineage":["https://openalex.org/I99682543"]}],"countries":["PT"],"is_corresponding":false,"raw_author_name":"Miguel Rocha","raw_affiliation_strings":["Department de Inform\u00e1tica, Universidade do Minho, Braga, Portugal","Department of Informatics, University of Minho, Braga, Portugal"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department de Inform\u00e1tica, Universidade do Minho, Braga, Portugal","institution_ids":["https://openalex.org/I99682543"]},{"raw_affiliation_string":"Department of Informatics, University of Minho, Braga, Portugal","institution_ids":["https://openalex.org/I99682543"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5043572862","display_name":"Joel P. Arrais","orcid":"https://orcid.org/0000-0003-4937-2334"},"institutions":[{"id":"https://openalex.org/I76903346","display_name":"University of Coimbra","ror":"https://ror.org/04z8k9a98","country_code":"PT","type":"education","lineage":["https://openalex.org/I76903346"]}],"countries":["PT"],"is_corresponding":false,"raw_author_name":"Joel P. Arrais","raw_affiliation_strings":["CISUC, University of Coimbra, Coimbra, Portugal"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"CISUC, University of Coimbra, Coimbra, Portugal","institution_ids":["https://openalex.org/I76903346"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":"1","last_page":"10"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10887","display_name":"Bioinformatics and Genomic Networks","score":0.9997000098228455,"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/T10887","display_name":"Bioinformatics and Genomic Networks","score":0.9997000098228455,"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/T10261","display_name":"Genetic Associations and Epidemiology","score":0.9990000128746033,"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/T10885","display_name":"Gene expression and cancer classification","score":0.989300012588501,"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/identification","display_name":"Identification (biology)","score":0.6819477081298828},{"id":"https://openalex.org/keywords/disease","display_name":"Disease","score":0.6679927110671997},{"id":"https://openalex.org/keywords/genome-wide-association-study","display_name":"Genome-wide association study","score":0.647475004196167},{"id":"https://openalex.org/keywords/complex-disease","display_name":"Complex disease","score":0.6319767832756042},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.612208902835846},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.6089894771575928},{"id":"https://openalex.org/keywords/genetic-association","display_name":"Genetic association","score":0.6002457737922668},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.5032462477684021},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.4760330021381378},{"id":"https://openalex.org/keywords/phenotype","display_name":"Phenotype","score":0.4507548213005066},{"id":"https://openalex.org/keywords/dysfunctional-family","display_name":"Dysfunctional family","score":0.4291221499443054},{"id":"https://openalex.org/keywords/genotype","display_name":"Genotype","score":0.36375153064727783},{"id":"https://openalex.org/keywords/bioinformatics","display_name":"Bioinformatics","score":0.32707148790359497},{"id":"https://openalex.org/keywords/medicine","display_name":"Medicine","score":0.19512996077537537},{"id":"https://openalex.org/keywords/single-nucleotide-polymorphism","display_name":"Single-nucleotide polymorphism","score":0.19157597422599792},{"id":"https://openalex.org/keywords/internal-medicine","display_name":"Internal medicine","score":0.06364613771438599}],"concepts":[{"id":"https://openalex.org/C116834253","wikidata":"https://www.wikidata.org/wiki/Q2039217","display_name":"Identification (biology)","level":2,"score":0.6819477081298828},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.6679927110671997},{"id":"https://openalex.org/C106208931","wikidata":"https://www.wikidata.org/wiki/Q1098876","display_name":"Genome-wide association study","level":5,"score":0.647475004196167},{"id":"https://openalex.org/C3018605307","wikidata":"https://www.wikidata.org/wiki/Q200779","display_name":"Complex disease","level":3,"score":0.6319767832756042},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.612208902835846},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.6089894771575928},{"id":"https://openalex.org/C186413461","wikidata":"https://www.wikidata.org/wiki/Q744727","display_name":"Genetic association","level":5,"score":0.6002457737922668},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5032462477684021},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4760330021381378},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.4507548213005066},{"id":"https://openalex.org/C27502469","wikidata":"https://www.wikidata.org/wiki/Q906343","display_name":"Dysfunctional family","level":2,"score":0.4291221499443054},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.36375153064727783},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.32707148790359497},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.19512996077537537},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.19157597422599792},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.06364613771438599},{"id":"https://openalex.org/C70410870","wikidata":"https://www.wikidata.org/wiki/Q199906","display_name":"Clinical psychology","level":1,"score":0.0},{"id":"https://openalex.org/C59822182","wikidata":"https://www.wikidata.org/wiki/Q441","display_name":"Botany","level":1,"score":0.0}],"mesh":[],"locations_count":2,"locations":[{"id":"doi:10.1007/978-3-030-86258-9_1","is_oa":false,"landing_page_url":"https://doi.org/10.1007/978-3-030-86258-9_1","pdf_url":null,"source":{"id":"https://openalex.org/S4210169156","display_name":"Lecture notes in networks and systems","issn_l":"2367-3370","issn":["2367-3370","2367-3389"],"is_oa":false,"is_in_doaj":false,"is_core":true,"host_organization":"https://openalex.org/P4310319972","host_organization_name":"Springer International Publishing","host_organization_lineage":["https://openalex.org/P4310319972","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer International Publishing","Springer Nature"],"type":"book series"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Lecture Notes in Networks and Systems","raw_type":"book-chapter"},{"id":"pmh:oai:repositorium.sdum.uminho.pt:1822/81105","is_oa":true,"landing_page_url":"https://hdl.handle.net/1822/81105","pdf_url":null,"source":{"id":"https://openalex.org/S4306400354","display_name":"Reposit\u00f3riUM (Universidade do Minho)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I99682543","host_organization_name":"University of Minho","host_organization_lineage":["https://openalex.org/I99682543"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"master thesis"}],"best_oa_location":{"id":"pmh:oai:repositorium.sdum.uminho.pt:1822/81105","is_oa":true,"landing_page_url":"https://hdl.handle.net/1822/81105","pdf_url":null,"source":{"id":"https://openalex.org/S4306400354","display_name":"Reposit\u00f3riUM (Universidade do Minho)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I99682543","host_organization_name":"University of Minho","host_organization_lineage":["https://openalex.org/I99682543"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"master thesis"},"sustainable_development_goals":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":13,"referenced_works":["https://openalex.org/W2065520119","https://openalex.org/W2104549677","https://openalex.org/W2133465414","https://openalex.org/W2142274602","https://openalex.org/W2158217645","https://openalex.org/W2269815321","https://openalex.org/W2626606138","https://openalex.org/W2725988230","https://openalex.org/W2891902949","https://openalex.org/W2917858269","https://openalex.org/W2972226864","https://openalex.org/W4299583394","https://openalex.org/W6806115372"],"related_works":["https://openalex.org/W1971424770","https://openalex.org/W2111842731","https://openalex.org/W2066467839","https://openalex.org/W2594299395","https://openalex.org/W2771541573","https://openalex.org/W2765794416","https://openalex.org/W1992310781","https://openalex.org/W2887190046","https://openalex.org/W4247775625","https://openalex.org/W2151668213"],"abstract_inverted_index":null,"counts_by_year":[],"updated_date":"2026-07-14T23:27:15.235271","created_date":"2025-10-10T00:00:00"}
