{"id":"https://openalex.org/W4313527379","doi":"https://doi.org/10.1109/bibm55620.2022.9994925","title":"A machine learning model for disease risk prediction by integrating genetic and non-genetic factors","display_name":"A machine learning model for disease risk prediction by integrating genetic and non-genetic factors","publication_year":2022,"publication_date":"2022-12-06","ids":{"openalex":"https://openalex.org/W4313527379","doi":"https://doi.org/10.1109/bibm55620.2022.9994925"},"language":"en","primary_location":{"id":"doi:10.1109/bibm55620.2022.9994925","is_oa":false,"landing_page_url":"https://doi.org/10.1109/bibm55620.2022.9994925","pdf_url":null,"source":{"id":"https://openalex.org/S4363607730","display_name":"2022 IEEE International Conference on Bioinformatics and Biomedicine (BIBM)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"conference"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"2022 IEEE International Conference on Bioinformatics and Biomedicine (BIBM)","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/A5067212646","display_name":"Yu Xu","orcid":"https://orcid.org/0009-0005-4873-1659"},"institutions":[{"id":"https://openalex.org/I141568987","display_name":"Hong Kong Baptist University","ror":"https://ror.org/0145fw131","country_code":"HK","type":"education","lineage":["https://openalex.org/I141568987"]}],"countries":["HK"],"is_corresponding":false,"raw_author_name":"Yu Xu","raw_affiliation_strings":["Hong Kong Baptist University,Department of Computer Science,Hong Kong,China","Department of Computer Science, Hong Kong Baptist University, Hong Kong, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Hong Kong Baptist University,Department of Computer Science,Hong Kong,China","institution_ids":["https://openalex.org/I141568987"]},{"raw_affiliation_string":"Department of Computer Science, Hong Kong Baptist University, Hong Kong, China","institution_ids":["https://openalex.org/I141568987"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5102575880","display_name":"Chonghao Wang","orcid":"https://orcid.org/0000-0002-4259-464X"},"institutions":[{"id":"https://openalex.org/I141568987","display_name":"Hong Kong Baptist University","ror":"https://ror.org/0145fw131","country_code":"HK","type":"education","lineage":["https://openalex.org/I141568987"]}],"countries":["HK"],"is_corresponding":false,"raw_author_name":"Chonghao Wang","raw_affiliation_strings":["Hong Kong Baptist University,Department of Computer Science,Hong Kong,China","Department of Computer Science, Hong Kong Baptist University, Hong Kong, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Hong Kong Baptist University,Department of Computer Science,Hong Kong,China","institution_ids":["https://openalex.org/I141568987"]},{"raw_affiliation_string":"Department of Computer Science, Hong Kong Baptist University, Hong Kong, China","institution_ids":["https://openalex.org/I141568987"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5027263510","display_name":"Zeming Li","orcid":"https://orcid.org/0009-0002-0895-4354"},"institutions":[{"id":"https://openalex.org/I141568987","display_name":"Hong Kong Baptist University","ror":"https://ror.org/0145fw131","country_code":"HK","type":"education","lineage":["https://openalex.org/I141568987"]}],"countries":["HK"],"is_corresponding":false,"raw_author_name":"Zeming Li","raw_affiliation_strings":["Hong Kong Baptist University,Department of Computer Science,Hong Kong,China","Department of Computer Science, Hong Kong Baptist University, Hong Kong, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Hong Kong Baptist University,Department of Computer Science,Hong Kong,China","institution_ids":["https://openalex.org/I141568987"]},{"raw_affiliation_string":"Department of Computer Science, Hong Kong Baptist University, Hong Kong, China","institution_ids":["https://openalex.org/I141568987"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5090194899","display_name":"Yunpeng Cai","orcid":"https://orcid.org/0000-0001-8797-4243"},"institutions":[{"id":"https://openalex.org/I4210145761","display_name":"Shenzhen Institutes of Advanced Technology","ror":"https://ror.org/04gh4er46","country_code":"CN","type":"facility","lineage":["https://openalex.org/I19820366","https://openalex.org/I4210145761"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Yunpeng Cai","raw_affiliation_strings":["Shenzhen Institutes of Advanced Technologies,Chinese Academy of Sciences,Shenzhen,China","Chinese Academy of Sciences, Shenzhen Institutes of Advanced Technologies, Shenzhen, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Shenzhen Institutes of Advanced Technologies,Chinese Academy of Sciences,Shenzhen,China","institution_ids":["https://openalex.org/I4210145761"]},{"raw_affiliation_string":"Chinese Academy of Sciences, Shenzhen Institutes of Advanced Technologies, Shenzhen, China","institution_ids":["https://openalex.org/I4210145761"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5052386888","display_name":"Ouzhou Young","orcid":null},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Ouzhou Young","raw_affiliation_strings":["Yashi Changhua Intelligent Technology Co., Ltd,Shenzhen,China","Yashi Changhua Intelligent Technology Co., Ltd, Shenzhen, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Yashi Changhua Intelligent Technology Co., Ltd,Shenzhen,China","institution_ids":[]},{"raw_affiliation_string":"Yashi Changhua Intelligent Technology Co., Ltd, Shenzhen, China","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112127369","display_name":"Aiping Lyu","orcid":null},"institutions":[{"id":"https://openalex.org/I141568987","display_name":"Hong Kong Baptist University","ror":"https://ror.org/0145fw131","country_code":"HK","type":"education","lineage":["https://openalex.org/I141568987"]}],"countries":["HK"],"is_corresponding":false,"raw_author_name":"Aiping Lyu","raw_affiliation_strings":["Hong Kong Baptist University,School of Chinese Medicine,Hong Kong,China","School of Chinese Medicine, Hong Kong Baptist University, Hong Kong, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Hong Kong Baptist University,School of Chinese Medicine,Hong Kong,China","institution_ids":["https://openalex.org/I141568987"]},{"raw_affiliation_string":"School of Chinese Medicine, Hong Kong Baptist University, Hong Kong, China","institution_ids":["https://openalex.org/I141568987"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5100388624","display_name":"Lu Zhang","orcid":"https://orcid.org/0000-0002-2794-7371"},"institutions":[{"id":"https://openalex.org/I141568987","display_name":"Hong Kong Baptist University","ror":"https://ror.org/0145fw131","country_code":"HK","type":"education","lineage":["https://openalex.org/I141568987"]}],"countries":["HK"],"is_corresponding":false,"raw_author_name":"Lu Zhang","raw_affiliation_strings":["Hong Kong Baptist University,Department of Computer Science,Hong Kong,China","Department of Computer Science, Hong Kong Baptist University, Hong Kong, China","Institute for Research and Continuing Education, Hong Kong Baptist University, Hong Kong, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Hong Kong Baptist University,Department of Computer Science,Hong Kong,China","institution_ids":["https://openalex.org/I141568987"]},{"raw_affiliation_string":"Department of Computer Science, Hong Kong Baptist University, Hong Kong, China","institution_ids":["https://openalex.org/I141568987"]},{"raw_affiliation_string":"Institute for Research and Continuing Education, Hong Kong Baptist University, Hong Kong, China","institution_ids":["https://openalex.org/I141568987"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":15.6518,"has_fulltext":false,"cited_by_count":7,"citation_normalized_percentile":{"value":0.99018838,"is_in_top_1_percent":true,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":90,"max":97},"biblio":{"volume":null,"issue":null,"first_page":"868","last_page":"871"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.9998999834060669,"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/T10261","display_name":"Genetic Associations and Epidemiology","score":0.9998999834060669,"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/T10887","display_name":"Bioinformatics and Genomic Networks","score":0.9868999719619751,"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/T10594","display_name":"Genetic and phenotypic traits in livestock","score":0.9847999811172485,"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/mendelian-randomization","display_name":"Mendelian randomization","score":0.8521148562431335},{"id":"https://openalex.org/keywords/biobank","display_name":"Biobank","score":0.6439756155014038},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.6050187349319458},{"id":"https://openalex.org/keywords/machine-learning","display_name":"Machine learning","score":0.5873436331748962},{"id":"https://openalex.org/keywords/disease","display_name":"Disease","score":0.5350191593170166},{"id":"https://openalex.org/keywords/population","display_name":"Population","score":0.4819193184375763},{"id":"https://openalex.org/keywords/genome-wide-association-study","display_name":"Genome-wide association study","score":0.4803982079029083},{"id":"https://openalex.org/keywords/genetic-association","display_name":"Genetic association","score":0.47012078762054443},{"id":"https://openalex.org/keywords/predictive-modelling","display_name":"Predictive modelling","score":0.43575847148895264},{"id":"https://openalex.org/keywords/artificial-intelligence","display_name":"Artificial intelligence","score":0.40681296586990356},{"id":"https://openalex.org/keywords/single-nucleotide-polymorphism","display_name":"Single-nucleotide polymorphism","score":0.33633744716644287},{"id":"https://openalex.org/keywords/bioinformatics","display_name":"Bioinformatics","score":0.3183688521385193},{"id":"https://openalex.org/keywords/medicine","display_name":"Medicine","score":0.2430436611175537},{"id":"https://openalex.org/keywords/genetic-variants","display_name":"Genetic variants","score":0.22721421718597412},{"id":"https://openalex.org/keywords/genotype","display_name":"Genotype","score":0.19041094183921814},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.1821707785129547},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.13631460070610046},{"id":"https://openalex.org/keywords/internal-medicine","display_name":"Internal medicine","score":0.12982338666915894}],"concepts":[{"id":"https://openalex.org/C2779901538","wikidata":"https://www.wikidata.org/wiki/Q6816584","display_name":"Mendelian randomization","level":5,"score":0.8521148562431335},{"id":"https://openalex.org/C116567970","wikidata":"https://www.wikidata.org/wiki/Q864217","display_name":"Biobank","level":2,"score":0.6439756155014038},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.6050187349319458},{"id":"https://openalex.org/C119857082","wikidata":"https://www.wikidata.org/wiki/Q2539","display_name":"Machine learning","level":1,"score":0.5873436331748962},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.5350191593170166},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.4819193184375763},{"id":"https://openalex.org/C106208931","wikidata":"https://www.wikidata.org/wiki/Q1098876","display_name":"Genome-wide association study","level":5,"score":0.4803982079029083},{"id":"https://openalex.org/C186413461","wikidata":"https://www.wikidata.org/wiki/Q744727","display_name":"Genetic association","level":5,"score":0.47012078762054443},{"id":"https://openalex.org/C45804977","wikidata":"https://www.wikidata.org/wiki/Q7239673","display_name":"Predictive modelling","level":2,"score":0.43575847148895264},{"id":"https://openalex.org/C154945302","wikidata":"https://www.wikidata.org/wiki/Q11660","display_name":"Artificial intelligence","level":1,"score":0.40681296586990356},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.33633744716644287},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.3183688521385193},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.2430436611175537},{"id":"https://openalex.org/C2993967602","wikidata":"https://www.wikidata.org/wiki/Q5532932","display_name":"Genetic variants","level":4,"score":0.22721421718597412},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.19041094183921814},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.1821707785129547},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.13631460070610046},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.12982338666915894},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"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":1,"locations":[{"id":"doi:10.1109/bibm55620.2022.9994925","is_oa":false,"landing_page_url":"https://doi.org/10.1109/bibm55620.2022.9994925","pdf_url":null,"source":{"id":"https://openalex.org/S4363607730","display_name":"2022 IEEE International Conference on Bioinformatics and Biomedicine (BIBM)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"conference"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"2022 IEEE International Conference on Bioinformatics and Biomedicine (BIBM)","raw_type":"proceedings-article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.6399999856948853,"id":"https://metadata.un.org/sdg/3"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":24,"referenced_works":["https://openalex.org/W2082704080","https://openalex.org/W2169795969","https://openalex.org/W2238851414","https://openalex.org/W2398690791","https://openalex.org/W2568497456","https://openalex.org/W2604218568","https://openalex.org/W2617316722","https://openalex.org/W2775393828","https://openalex.org/W2805983714","https://openalex.org/W2809398771","https://openalex.org/W2886752110","https://openalex.org/W2895366584","https://openalex.org/W2901952863","https://openalex.org/W2951553270","https://openalex.org/W2958615822","https://openalex.org/W3010865323","https://openalex.org/W3020100939","https://openalex.org/W3045441625","https://openalex.org/W3048245060","https://openalex.org/W3111018742","https://openalex.org/W3175038772","https://openalex.org/W4313340485","https://openalex.org/W6682991711","https://openalex.org/W6781887288"],"related_works":["https://openalex.org/W2594299395","https://openalex.org/W2066467839","https://openalex.org/W2111842731","https://openalex.org/W2170506381","https://openalex.org/W2765794416","https://openalex.org/W2039666944","https://openalex.org/W1531630856","https://openalex.org/W1486217206","https://openalex.org/W1992310781","https://openalex.org/W2794350630"],"abstract_inverted_index":{"Polygenic":[0],"risk":[1,41,57,62,101,130,143,192],"score":[2],"(PRS)":[3],"has":[4],"been":[5,30],"widely":[6],"used":[7],"to":[8,32,67,86,121,127,138,152,175],"identify":[9,139],"the":[10,14,39,60,140,146,172,185,190],"high-risk":[11],"individuals":[12],"from":[13,43,161],"general":[15],"population,":[16],"which":[17],"would":[18],"be":[19,54],"helpful":[20],"for":[21,56,99,145],"disease":[22,61,100,129,160],"prevention":[23],"and":[24,37,90,124,157,164],"early":[25],"treatment.":[26],"Many":[27],"methods":[28,174],"have":[29],"developed":[31],"calculate":[33,176],"PRS":[34],"by":[35],"weighting":[36],"aggregating":[38],"phenotype-associated":[40],"alleles":[42],"genome-wide":[44],"association":[45],"studies.":[46],"However,":[47],"only":[48,65],"considering":[49],"genetic":[50,68,89,123],"effects":[51],"may":[52],"not":[53,64],"sufficient":[55],"prediction":[58],"because":[59],"is":[63,82],"related":[66],"factors":[69,92,126,144],"but":[70],"also":[71],"non-genetic":[72,91,125,142],"factors,":[73],"e.g.,":[74],"diet,":[75],"physical":[76],"exercise":[77],"et":[78],"al.":[79],"But":[80],"it":[81],"still":[83],"a":[84,94,113],"challenge":[85],"integrate":[87,122],"these":[88],"into":[93],"unified":[95],"machine":[96,114],"learning":[97,115],"framework":[98],"prediction.":[102,131],"In":[103,178],"this":[104],"paper,":[105],"we":[106,133,180],"proposed":[107],"PRSIMD":[108,151,167,183,197],"(PRS":[109],"Integrating":[110],"Multi-source":[111],"Data),":[112],"model":[116],"that":[117,166,182],"applies":[118],"posterior":[119],"regularization":[120],"improve":[128],"Also,":[132],"applied":[134,150],"Mendelian":[135],"Randomization":[136],"analysis":[137],"causal":[141],"selected":[147],"diseases.":[148],"We":[149],"predict":[153],"type":[154],"2":[155],"diabetes":[156],"coronary":[158],"artery":[159],"UK":[162],"Biobank":[163],"observed":[165,181],"was":[168],"significantly":[169],"better":[170,186],"than":[171,189],"existing":[173],"PRS.":[177],"addition,":[179],"achieved":[184],"predictive":[187],"power":[188],"composite":[191],"score.":[193],"The":[194],"codes":[195],"of":[196],"are":[198],"available":[199],"at:":[200],"https://github.con":[201],"ericcombiolab/PRSIMD":[202]},"counts_by_year":[{"year":2025,"cited_by_count":3},{"year":2024,"cited_by_count":3},{"year":2023,"cited_by_count":1}],"updated_date":"2026-07-29T14:22:42.915294","created_date":"2025-10-10T00:00:00"}
