{"id":"https://openalex.org/W4394564790","doi":"https://doi.org/10.1109/iske60036.2023.10481444","title":"Deep Neural Network-Empowered Polygenic Disease Prediction on Cardiovascular Diseases","display_name":"Deep Neural Network-Empowered Polygenic Disease Prediction on Cardiovascular Diseases","publication_year":2023,"publication_date":"2023-11-17","ids":{"openalex":"https://openalex.org/W4394564790","doi":"https://doi.org/10.1109/iske60036.2023.10481444"},"language":"en","primary_location":{"id":"doi:10.1109/iske60036.2023.10481444","is_oa":false,"landing_page_url":"https://doi.org/10.1109/iske60036.2023.10481444","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"2023 18th International Conference on Intelligent Systems and Knowledge Engineering (ISKE)","raw_type":"proceedings-article"},"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/A5092767198","display_name":"Zelia Soo","orcid":"https://orcid.org/0009-0005-3058-5390"},"institutions":[{"id":"https://openalex.org/I114017466","display_name":"University of Technology Sydney","ror":"https://ror.org/03f0f6041","country_code":"AU","type":"education","lineage":["https://openalex.org/I114017466"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Zelia Soo","raw_affiliation_strings":["Australian Artificial Intelligence Institute, University of Technology Sydney,Ultimo,Australia","Australian Artificial Intelligence Institute, University of Technology Sydney, Ultimo, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Australian Artificial Intelligence Institute, University of Technology Sydney,Ultimo,Australia","institution_ids":["https://openalex.org/I114017466"]},{"raw_affiliation_string":"Australian Artificial Intelligence Institute, University of Technology Sydney, Ultimo, Australia","institution_ids":["https://openalex.org/I114017466"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100393797","display_name":"Hua Lin","orcid":"https://orcid.org/0000-0003-0311-011X"},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Hua Lin","raw_affiliation_strings":["23Strands,Pyrmont,Australia","23Strands, Pyrmont, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"23Strands,Pyrmont,Australia","institution_ids":[]},{"raw_affiliation_string":"23Strands, Pyrmont, Australia","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113900481","display_name":"Yue Yang","orcid":"https://orcid.org/0009-0001-5537-5833"},"institutions":[{"id":"https://openalex.org/I114017466","display_name":"University of Technology Sydney","ror":"https://ror.org/03f0f6041","country_code":"AU","type":"education","lineage":["https://openalex.org/I114017466"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Yue Yang","raw_affiliation_strings":["Australian Artificial Intelligence Institute, University of Technology Sydney,Ultimo,Australia","Australian Artificial Intelligence Institute, University of Technology Sydney, Ultimo, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Australian Artificial Intelligence Institute, University of Technology Sydney,Ultimo,Australia","institution_ids":["https://openalex.org/I114017466"]},{"raw_affiliation_string":"Australian Artificial Intelligence Institute, University of Technology Sydney, Ultimo, Australia","institution_ids":["https://openalex.org/I114017466"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5024113714","display_name":"Mark Grosser","orcid":"https://orcid.org/0000-0002-4281-5369"},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Mark Grosser","raw_affiliation_strings":["23Strands,Pyrmont,Australia","23Strands, Pyrmont, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"23Strands,Pyrmont,Australia","institution_ids":[]},{"raw_affiliation_string":"23Strands, Pyrmont, Australia","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100388218","display_name":"Yi Zhang","orcid":"https://orcid.org/0000-0002-7731-0301"},"institutions":[{"id":"https://openalex.org/I114017466","display_name":"University of Technology Sydney","ror":"https://ror.org/03f0f6041","country_code":"AU","type":"education","lineage":["https://openalex.org/I114017466"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Yi Zhang","raw_affiliation_strings":["Australian Artificial Intelligence Institute, University of Technology Sydney,Ultimo,Australia","Australian Artificial Intelligence Institute, University of Technology Sydney, Ultimo, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Australian Artificial Intelligence Institute, University of Technology Sydney,Ultimo,Australia","institution_ids":["https://openalex.org/I114017466"]},{"raw_affiliation_string":"Australian Artificial Intelligence Institute, University of Technology Sydney, Ultimo, Australia","institution_ids":["https://openalex.org/I114017466"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5100675577","display_name":"Jie L\u00fc","orcid":"https://orcid.org/0000-0003-0690-4732"},"institutions":[{"id":"https://openalex.org/I114017466","display_name":"University of Technology Sydney","ror":"https://ror.org/03f0f6041","country_code":"AU","type":"education","lineage":["https://openalex.org/I114017466"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Jie Lu","raw_affiliation_strings":["Australian Artificial Intelligence Institute, University of Technology Sydney,Ultimo,Australia","Australian Artificial Intelligence Institute, University of Technology Sydney, Ultimo, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Australian Artificial Intelligence Institute, University of Technology Sydney,Ultimo,Australia","institution_ids":["https://openalex.org/I114017466"]},{"raw_affiliation_string":"Australian Artificial Intelligence Institute, University of Technology Sydney, Ultimo, Australia","institution_ids":["https://openalex.org/I114017466"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":2.6872,"has_fulltext":false,"cited_by_count":2,"citation_normalized_percentile":{"value":0.91413084,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":91,"max":97},"biblio":{"volume":null,"issue":null,"first_page":"309","last_page":"315"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10887","display_name":"Bioinformatics and Genomic Networks","score":0.9136000275611877,"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":0.9136000275611877,"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/artificial-neural-network","display_name":"Artificial neural network","score":0.6428304314613342},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.6230760812759399},{"id":"https://openalex.org/keywords/disease","display_name":"Disease","score":0.5733550786972046},{"id":"https://openalex.org/keywords/artificial-intelligence","display_name":"Artificial intelligence","score":0.5608352422714233},{"id":"https://openalex.org/keywords/deep-learning","display_name":"Deep learning","score":0.42417576909065247},{"id":"https://openalex.org/keywords/machine-learning","display_name":"Machine learning","score":0.35095322132110596},{"id":"https://openalex.org/keywords/medicine","display_name":"Medicine","score":0.23451176285743713},{"id":"https://openalex.org/keywords/internal-medicine","display_name":"Internal medicine","score":0.12214338779449463}],"concepts":[{"id":"https://openalex.org/C50644808","wikidata":"https://www.wikidata.org/wiki/Q192776","display_name":"Artificial neural network","level":2,"score":0.6428304314613342},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.6230760812759399},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.5733550786972046},{"id":"https://openalex.org/C154945302","wikidata":"https://www.wikidata.org/wiki/Q11660","display_name":"Artificial intelligence","level":1,"score":0.5608352422714233},{"id":"https://openalex.org/C108583219","wikidata":"https://www.wikidata.org/wiki/Q197536","display_name":"Deep learning","level":2,"score":0.42417576909065247},{"id":"https://openalex.org/C119857082","wikidata":"https://www.wikidata.org/wiki/Q2539","display_name":"Machine learning","level":1,"score":0.35095322132110596},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.23451176285743713},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.12214338779449463}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1109/iske60036.2023.10481444","is_oa":false,"landing_page_url":"https://doi.org/10.1109/iske60036.2023.10481444","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"2023 18th International Conference on Intelligent Systems and Knowledge Engineering (ISKE)","raw_type":"proceedings-article"}],"best_oa_location":null,"sustainable_development_goals":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":26,"referenced_works":["https://openalex.org/W2101234009","https://openalex.org/W2110048796","https://openalex.org/W2160515792","https://openalex.org/W2161633633","https://openalex.org/W2169795969","https://openalex.org/W2613151407","https://openalex.org/W2909872730","https://openalex.org/W2951673592","https://openalex.org/W2953208595","https://openalex.org/W2988775123","https://openalex.org/W3028329270","https://openalex.org/W3036981277","https://openalex.org/W3045441625","https://openalex.org/W3047588109","https://openalex.org/W3090495773","https://openalex.org/W3111018742","https://openalex.org/W3116980089","https://openalex.org/W3134184401","https://openalex.org/W3134349545","https://openalex.org/W4212984806","https://openalex.org/W4226064195","https://openalex.org/W4285727181","https://openalex.org/W4308559981","https://openalex.org/W4308616307","https://openalex.org/W4362666447","https://openalex.org/W4386498736"],"related_works":["https://openalex.org/W2731899572","https://openalex.org/W2961085424","https://openalex.org/W3215138031","https://openalex.org/W4306674287","https://openalex.org/W3009238340","https://openalex.org/W4321369474","https://openalex.org/W4360585206","https://openalex.org/W4285208911","https://openalex.org/W3046775127","https://openalex.org/W3082895349"],"abstract_inverted_index":{"There":[0],"is":[1,38],"a":[2,62,131,136],"growing":[3],"area":[4],"of":[5,35,45,76,146],"research":[6],"showing":[7],"that":[8,21],"complex":[9],"diseases":[10,37],"have":[11],"been":[12],"found":[13],"to":[14,25,41,89,104,111,158],"be":[15],"caused":[16],"by":[17],"significant":[18],"genetic":[19],"variants,":[20],"is,":[22],"multiple":[23,30],"changes":[24],"the":[26,33,42,49,102,109,113,125,144,147,152],"normal":[27],"genome":[28],"across":[29],"locations.":[31],"Predicting":[32],"risk":[34,114],"these":[36],"difficult":[39],"due":[40],"limited":[43],"knowledge":[44],"variant":[46,87],"causation":[47],"and":[48,108,128,135,150],"leading":[50],"approaches":[51],"currently":[52],"focus":[53],"on":[54,120],"gene-disease":[55],"association.":[56],"In":[57],"this":[58],"work,":[59],"we":[60],"propose":[61],"cardiovascular":[63],"disease":[64,91,160],"based":[65],"analysis":[66],"using":[67,81,124],"an":[68],"enhanced":[69],"indel":[70,83,106,156],"deep":[71,78,97],"neural":[72,79,98],"network":[73],"(EI-DNN),":[74],"comprised":[75],"two":[77,96],"networks":[80,99],"novel":[82],"variants":[84,157],"alongside":[85],"conventional":[86,132],"sites":[88],"predict":[90],"risk.":[92],"This":[93],"model":[94],"uses":[95],"in":[100],"series,":[101],"first":[103],"process":[105],"data":[107],"second":[110],"provide":[112],"score.":[115],"The":[116,140],"experiments":[117],"were":[118],"performed":[119],"our":[121],"proposed":[122,148],"algorithm":[123],"MGRB":[126],"database":[127],"compared":[129],"against":[130],"PRS":[133],"calculation":[134],"single":[137],"DNN":[138],"algorithm.":[139],"experimental":[141],"results":[142],"validate":[143],"effectiveness":[145],"method":[149],"highlight":[151],"capabilities":[153],"with":[154],"combining":[155],"enhance":[159],"prediction.":[161]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":1}],"updated_date":"2026-07-29T14:22:42.915294","created_date":"2025-10-10T00:00:00"}