{"id":"https://openalex.org/W4200206783","doi":"https://doi.org/10.1109/embc46164.2021.9629983","title":"Use of deep learning genomics to discriminate Alzheimer's disease and healthy controls","display_name":"Use of deep learning genomics to discriminate Alzheimer's disease and healthy controls","publication_year":2021,"publication_date":"2021-11-01","ids":{"openalex":"https://openalex.org/W4200206783","doi":"https://doi.org/10.1109/embc46164.2021.9629983","pmid":"https://pubmed.ncbi.nlm.nih.gov/34892435"},"language":"en","primary_location":{"id":"doi:10.1109/embc46164.2021.9629983","is_oa":false,"landing_page_url":"https://doi.org/10.1109/embc46164.2021.9629983","pdf_url":null,"source":{"id":"https://openalex.org/S4363607750","display_name":"2021 43rd Annual International Conference of the IEEE Engineering in Medicine &amp; Biology Society (EMBC)","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":"2021 43rd Annual International Conference of the IEEE Engineering in Medicine &amp; Biology Society (EMBC)","raw_type":"proceedings-article"},"type":"conference-paper","indexed_in":["crossref","pubmed"],"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/A5100655931","display_name":"Lanlan Li","orcid":"https://orcid.org/0000-0002-7485-2017"},"institutions":[{"id":"https://openalex.org/I113940042","display_name":"Shanghai University","ror":"https://ror.org/006teas31","country_code":"CN","type":"education","lineage":["https://openalex.org/I113940042"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Lanlan Li","raw_affiliation_strings":["Shanghai Institute for Advanced Communication and Data Science, Shanghai University, Shanghai, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Shanghai Institute for Advanced Communication and Data Science, Shanghai University, Shanghai, China","institution_ids":["https://openalex.org/I113940042"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101075119","display_name":"Yanru Huang","orcid":null},"institutions":[{"id":"https://openalex.org/I113940042","display_name":"Shanghai University","ror":"https://ror.org/006teas31","country_code":"CN","type":"education","lineage":["https://openalex.org/I113940042"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Yanru Huang","raw_affiliation_strings":["Shanghai Institute for Advanced Communication and Data Science, Shanghai University, Shanghai, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Shanghai Institute for Advanced Communication and Data Science, Shanghai University, Shanghai, China","institution_ids":["https://openalex.org/I113940042"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5044420499","display_name":"Ying Han","orcid":"https://orcid.org/0000-0002-4342-1062"},"institutions":[{"id":"https://openalex.org/I113940042","display_name":"Shanghai University","ror":"https://ror.org/006teas31","country_code":"CN","type":"education","lineage":["https://openalex.org/I113940042"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Ying Han","raw_affiliation_strings":["Shanghai Institute for Advanced Communication and Data Science, Shanghai University, Shanghai, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Shanghai Institute for Advanced Communication and Data Science, Shanghai University, Shanghai, China","institution_ids":["https://openalex.org/I113940042"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5081693785","display_name":"Jiehui Jiang","orcid":"https://orcid.org/0000-0003-4948-3683"},"institutions":[{"id":"https://openalex.org/I113940042","display_name":"Shanghai University","ror":"https://ror.org/006teas31","country_code":"CN","type":"education","lineage":["https://openalex.org/I113940042"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Jiehui Jiang","raw_affiliation_strings":["Shanghai Institute for Advanced Communication and Data Science, Shanghai University, Shanghai, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Shanghai Institute for Advanced Communication and Data Science, Shanghai University, Shanghai, China","institution_ids":["https://openalex.org/I113940042"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":["https://openalex.org/I113940042"],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":false,"cited_by_count":7,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":"2021","issue":null,"first_page":"5788","last_page":"5791"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10887","display_name":"Bioinformatics and Genomic Networks","score":0.9969000220298767,"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":0.9969000220298767,"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/T10885","display_name":"Gene expression and cancer classification","score":0.9962000250816345,"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":0.995199978351593,"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/genome-wide-association-study","display_name":"Genome-wide association study","score":0.8645362257957458},{"id":"https://openalex.org/keywords/genetic-association","display_name":"Genetic association","score":0.5007457733154297},{"id":"https://openalex.org/keywords/genomics","display_name":"Genomics","score":0.49405649304389954},{"id":"https://openalex.org/keywords/snp","display_name":"SNP","score":0.4917609989643097},{"id":"https://openalex.org/keywords/artificial-intelligence","display_name":"Artificial intelligence","score":0.4288838505744934},{"id":"https://openalex.org/keywords/single-nucleotide-polymorphism","display_name":"Single-nucleotide polymorphism","score":0.39637503027915955},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.3804696202278137},{"id":"https://openalex.org/keywords/genotype","display_name":"Genotype","score":0.3769789934158325},{"id":"https://openalex.org/keywords/medicine","display_name":"Medicine","score":0.32893306016921997},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.30421850085258484},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.2441980242729187},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.22160902619361877},{"id":"https://openalex.org/keywords/genome","display_name":"Genome","score":0.20610585808753967},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.12836682796478271}],"concepts":[{"id":"https://openalex.org/C106208931","wikidata":"https://www.wikidata.org/wiki/Q1098876","display_name":"Genome-wide association study","level":5,"score":0.8645362257957458},{"id":"https://openalex.org/C186413461","wikidata":"https://www.wikidata.org/wiki/Q744727","display_name":"Genetic association","level":5,"score":0.5007457733154297},{"id":"https://openalex.org/C189206191","wikidata":"https://www.wikidata.org/wiki/Q222046","display_name":"Genomics","level":4,"score":0.49405649304389954},{"id":"https://openalex.org/C139275648","wikidata":"https://www.wikidata.org/wiki/Q17134011","display_name":"SNP","level":5,"score":0.4917609989643097},{"id":"https://openalex.org/C154945302","wikidata":"https://www.wikidata.org/wiki/Q11660","display_name":"Artificial intelligence","level":1,"score":0.4288838505744934},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.39637503027915955},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.3804696202278137},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.3769789934158325},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.32893306016921997},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.30421850085258484},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.2441980242729187},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.22160902619361877},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.20610585808753967},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.12836682796478271}],"mesh":[{"descriptor_ui":"D000077321","descriptor_name":"Deep Learning","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D000077321","descriptor_name":"Deep Learning","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D000077321","descriptor_name":"Deep Learning","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D000368","descriptor_name":"Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000368","descriptor_name":"Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000368","descriptor_name":"Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000544","descriptor_name":"Alzheimer Disease","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D000544","descriptor_name":"Alzheimer Disease","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D000544","descriptor_name":"Alzheimer Disease","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D000544","descriptor_name":"Alzheimer Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D000544","descriptor_name":"Alzheimer Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D000544","descriptor_name":"Alzheimer Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008279","descriptor_name":"Magnetic Resonance Imaging","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008279","descriptor_name":"Magnetic Resonance Imaging","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008279","descriptor_name":"Magnetic Resonance Imaging","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D023281","descriptor_name":"Genomics","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D023281","descriptor_name":"Genomics","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D023281","descriptor_name":"Genomics","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D060825","descriptor_name":"Cognitive Dysfunction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D060825","descriptor_name":"Cognitive Dysfunction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D060825","descriptor_name":"Cognitive Dysfunction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1109/embc46164.2021.9629983","is_oa":false,"landing_page_url":"https://doi.org/10.1109/embc46164.2021.9629983","pdf_url":null,"source":{"id":"https://openalex.org/S4363607750","display_name":"2021 43rd Annual International Conference of the IEEE Engineering in Medicine &amp; Biology Society (EMBC)","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":"2021 43rd Annual International Conference of the IEEE Engineering in Medicine &amp; Biology Society (EMBC)","raw_type":"proceedings-article"},{"id":"pmid:34892435","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/34892435","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International Conference","raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Reduced inequalities","id":"https://metadata.un.org/sdg/10","score":0.6399999856948853}],"awards":[],"funders":[{"id":"https://openalex.org/F4320321001","display_name":"National Natural Science Foundation of China","ror":"https://ror.org/01h0zpd94"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":13,"referenced_works":["https://openalex.org/W1897498940","https://openalex.org/W1994029270","https://openalex.org/W2002181764","https://openalex.org/W2018716777","https://openalex.org/W2028546773","https://openalex.org/W2073483498","https://openalex.org/W2166348468","https://openalex.org/W2194775991","https://openalex.org/W2439833924","https://openalex.org/W2775941375","https://openalex.org/W2883945062","https://openalex.org/W2935703330","https://openalex.org/W2951760474"],"related_works":["https://openalex.org/W2164855536","https://openalex.org/W1997352593","https://openalex.org/W2143489661","https://openalex.org/W3016573916","https://openalex.org/W2070581548","https://openalex.org/W1511048503","https://openalex.org/W4281711902","https://openalex.org/W3206555169","https://openalex.org/W3157359833","https://openalex.org/W3024317680"],"abstract_inverted_index":{"Alzheimer's":[0],"disease":[1],"(AD)":[2],"is":[3,21],"the":[4,10,17,58,107,142,149,157,161,201,214,231,235,251,255],"most":[5,11],"prevalent":[6],"neurodegenerative":[7],"disorder":[8],"and":[9,83,90,113,134,156,187,207,217,228,238,248,262,280,284],"common":[12],"form":[13],"of":[14,48,102,126,160,219,240,276,290],"dementia":[15],"in":[16,28,57,63,106,145,195,230,250,282,286,294],"elderly.":[18],"Because":[19],"gene":[20],"an":[22],"important":[23],"clinical":[24],"risk":[25],"factor":[26],"resulting":[27],"AD,":[29,277],"genomic":[30],"studies,":[31,60],"such":[32],"as":[33,141,167],"genome-wide":[34],"association":[35],"studies":[36],"(GWAS),":[37],"have":[38],"widely":[39],"been":[40],"applied":[41,84,265],"into":[42,181],"AD":[43,88,111,295],"studies.":[44],"However,":[45],"main":[46],"shortcomings":[47],"GWAS":[49,59,71,151,209,223],"method":[50],"were":[51,55,165,179],"that":[52],"hereditary":[53],"deletions":[54],"evident":[56],"which":[61],"resulted":[62],"low":[64],"classification":[65,202,220,241],"or":[66],"prediction":[67],"abilities":[68],"by":[69],"using":[70,172],"analysis.":[72,210],"Therefore,":[73],"this":[74,96,146],"paper":[75],"proposed":[76,118],"a":[77,212],"novel":[78,273,292],"deep":[79,119],"learning":[80,120],"genomics":[81,121],"approach":[82,123],"it":[85],"to":[86,169,266],"discriminate":[87],"patients":[89,112],"healthy":[91],"control":[92],"(HC)":[93],"subjects.":[94,116],"In":[95,148],"study,":[97],"we":[98,199,270],"selected":[99],"genotype":[100,132],"data":[101,178],"988":[103],"subjects":[104],"enrolled":[105],"ADNI,":[108],"including":[109,278],"622":[110],"366":[114],"HC":[115],"The":[117,136,288],"(DLG)":[122],"was":[124,139,193,225,245],"composed":[125],"three":[127],"steps:":[128],"quality":[129],"control,":[130],"SNP":[131,163],"coding,":[133],"classification.":[135],"Resnet":[137],"framework":[138],"used":[140,194],"DLG":[143,205,243,256],"model":[144,206,244,257],"study.":[147],"comparative":[150],"analysis,":[152],"APOE":[153],"\u03b54":[154],"status":[155],"normalized":[158],"theta-value":[159],"significant":[162],"loci":[164,293],"seen":[166],"predictors":[168],"classify":[170],"genetically":[171],"Support":[173],"Vector":[174],"Machine":[175],"(SVM).":[176],"All":[177],"divided":[180],"one":[182,188],"training":[183],"&":[184],"validation":[185],"group":[186],"test":[189,232,252],"group.":[190,253],"5-fold":[191],"cross-validation":[192],"500":[196],"times.":[197],"Finally,":[198],"compared":[200],"results":[203],"between":[204],"traditional":[208,222],"As":[211],"result,":[213],"accuracy,":[215,236],"sensitivity,":[216,237],"specificity":[218,239],"for":[221,242],"analysis":[224],"71.38%\u00b10.63%,":[226],"63.13%\u00b12.87%":[227],"85.59%\u00b16.66%":[229],"group;":[233],"while":[234],"92.65%\u00b14.80%,":[246],"85.00%\u00b116.25%":[247],"97.10%\u00b14.38%":[249],"Hence,":[254],"can":[258],"achieve":[259],"higher":[260],"accuracy":[261],"sensitivity":[263],"when":[264],"AD.":[267],"More":[268],"importantly,":[269],"discovered":[271],"several":[272],"genetic":[274],"biomarkers":[275],"rs6311":[279],"rs6313":[281],"HTR2A,":[283],"rs690705":[285],"RFC3.":[287],"roles":[289],"these":[291],"should":[296],"be":[297],"explored":[298],"future.":[299]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":2},{"year":2023,"cited_by_count":3}],"updated_date":"2026-07-14T23:27:15.235271","created_date":"2025-10-10T00:00:00"}
