{"id":"https://openalex.org/W4211064437","doi":"https://doi.org/10.1093/bib/bbac022","title":"Deep learning-based identification of genetic variants: application to Alzheimer\u2019s disease classification","display_name":"Deep learning-based identification of genetic variants: application to Alzheimer\u2019s disease classification","publication_year":2022,"publication_date":"2022-02-10","ids":{"openalex":"https://openalex.org/W4211064437","doi":"https://doi.org/10.1093/bib/bbac022","pmid":"https://pubmed.ncbi.nlm.nih.gov/35183061"},"language":"en","primary_location":{"id":"doi:10.1093/bib/bbac022","is_oa":false,"landing_page_url":"https://doi.org/10.1093/bib/bbac022","pdf_url":null,"source":{"id":"https://openalex.org/S91767247","display_name":"Briefings in Bioinformatics","issn_l":"1467-5463","issn":["1467-5463","1477-4054"],"is_oa":false,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Briefings in Bioinformatics","raw_type":"journal-article"},"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/8921609","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5103134947","display_name":"Taeho Jo","orcid":"https://orcid.org/0000-0003-1765-5735"},"institutions":[{"id":"https://openalex.org/I4210119109","display_name":"Indiana University Bloomington","ror":"https://ror.org/02k40bc56","country_code":"US","type":"education","lineage":["https://openalex.org/I4210119109","https://openalex.org/I592451"]},{"id":"https://openalex.org/I4394709130","display_name":"Indiana University School of Medicine","ror":"https://ror.org/02ets8c94","country_code":null,"type":"education","lineage":["https://openalex.org/I4394709130","https://openalex.org/I592451"]},{"id":"https://openalex.org/I55769427","display_name":"Indiana University \u2013 Purdue University Indianapolis","ror":"https://ror.org/05gxnyn08","country_code":"US","type":"education","lineage":["https://openalex.org/I55769427","https://openalex.org/I592451"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Taeho Jo","raw_affiliation_strings":["Department of Radiology and Imaging Sciences, Center for Neuroimaging, Indiana University School of Medicine , Indianapolis, IN , USA","Indiana Alzheimer\u2019s Disease Research Center, Indiana University School of Medicine , Indianapolis, IN , USA","Indiana University Network Science Institute , Bloomington, IN , USA"],"affiliations":[{"raw_affiliation_string":"Department of Radiology and Imaging Sciences, Center for Neuroimaging, Indiana University School of Medicine , Indianapolis, IN , USA","institution_ids":["https://openalex.org/I55769427","https://openalex.org/I4394709130"]},{"raw_affiliation_string":"Indiana Alzheimer\u2019s Disease Research Center, Indiana University School of Medicine , Indianapolis, IN , USA","institution_ids":["https://openalex.org/I55769427","https://openalex.org/I4394709130"]},{"raw_affiliation_string":"Indiana University Network Science Institute , Bloomington, IN , USA","institution_ids":["https://openalex.org/I4210119109"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5087302585","display_name":"Kwangsik Nho","orcid":"https://orcid.org/0000-0002-7624-3872"},"institutions":[{"id":"https://openalex.org/I4210119109","display_name":"Indiana University Bloomington","ror":"https://ror.org/02k40bc56","country_code":"US","type":"education","lineage":["https://openalex.org/I4210119109","https://openalex.org/I592451"]},{"id":"https://openalex.org/I4394709130","display_name":"Indiana University School of Medicine","ror":"https://ror.org/02ets8c94","country_code":null,"type":"education","lineage":["https://openalex.org/I4394709130","https://openalex.org/I592451"]},{"id":"https://openalex.org/I55769427","display_name":"Indiana University \u2013 Purdue University Indianapolis","ror":"https://ror.org/05gxnyn08","country_code":"US","type":"education","lineage":["https://openalex.org/I55769427","https://openalex.org/I592451"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Kwangsik Nho","raw_affiliation_strings":["Center for Computational Biology and Bioinformatics, Indiana University School of Medicine , Indianapolis, IN , USA","Department of Radiology and Imaging Sciences, Center for Neuroimaging, Indiana University School of Medicine , Indianapolis, IN , USA","Indiana Alzheimer\u2019s Disease Research Center, Indiana University School of Medicine , Indianapolis, IN , USA","Indiana University Network Science Institute , Bloomington, IN , USA"],"affiliations":[{"raw_affiliation_string":"Center for Computational Biology and Bioinformatics, Indiana University School of Medicine , Indianapolis, IN , USA","institution_ids":["https://openalex.org/I55769427","https://openalex.org/I4394709130"]},{"raw_affiliation_string":"Department of Radiology and Imaging Sciences, Center for Neuroimaging, Indiana University School of Medicine , Indianapolis, IN , USA","institution_ids":["https://openalex.org/I55769427","https://openalex.org/I4394709130"]},{"raw_affiliation_string":"Indiana Alzheimer\u2019s Disease Research Center, Indiana University School of Medicine , Indianapolis, IN , USA","institution_ids":["https://openalex.org/I55769427","https://openalex.org/I4394709130"]},{"raw_affiliation_string":"Indiana University Network Science Institute , Bloomington, IN , USA","institution_ids":["https://openalex.org/I4210119109"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5063658112","display_name":"Paula J. Bice","orcid":"https://orcid.org/0000-0001-5357-9966"},"institutions":[{"id":"https://openalex.org/I4394709130","display_name":"Indiana University School of Medicine","ror":"https://ror.org/02ets8c94","country_code":null,"type":"education","lineage":["https://openalex.org/I4394709130","https://openalex.org/I592451"]},{"id":"https://openalex.org/I55769427","display_name":"Indiana University \u2013 Purdue University Indianapolis","ror":"https://ror.org/05gxnyn08","country_code":"US","type":"education","lineage":["https://openalex.org/I55769427","https://openalex.org/I592451"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Paula Bice","raw_affiliation_strings":["Department of Radiology and Imaging Sciences, Center for Neuroimaging, Indiana University School of Medicine , Indianapolis, IN , USA","Indiana Alzheimer\u2019s Disease Research Center, Indiana University School of Medicine , Indianapolis, IN , USA"],"affiliations":[{"raw_affiliation_string":"Department of Radiology and Imaging Sciences, Center for Neuroimaging, Indiana University School of Medicine , Indianapolis, IN , USA","institution_ids":["https://openalex.org/I55769427","https://openalex.org/I4394709130"]},{"raw_affiliation_string":"Indiana Alzheimer\u2019s Disease Research Center, Indiana University School of Medicine , Indianapolis, IN , USA","institution_ids":["https://openalex.org/I55769427","https://openalex.org/I4394709130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5026257338","display_name":"Andrew J. Saykin","orcid":"https://orcid.org/0000-0002-1376-8532"},"institutions":[{"id":"https://openalex.org/I4210119109","display_name":"Indiana University Bloomington","ror":"https://ror.org/02k40bc56","country_code":"US","type":"education","lineage":["https://openalex.org/I4210119109","https://openalex.org/I592451"]},{"id":"https://openalex.org/I4394709130","display_name":"Indiana University School of Medicine","ror":"https://ror.org/02ets8c94","country_code":null,"type":"education","lineage":["https://openalex.org/I4394709130","https://openalex.org/I592451"]},{"id":"https://openalex.org/I55769427","display_name":"Indiana University \u2013 Purdue University Indianapolis","ror":"https://ror.org/05gxnyn08","country_code":"US","type":"education","lineage":["https://openalex.org/I55769427","https://openalex.org/I592451"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Andrew J Saykin","raw_affiliation_strings":["Department of Medical and Molecular Genetics, Indiana University School of Medicine , Indianapolis, IN , USA","Department of Radiology and Imaging Sciences, Center for Neuroimaging, Indiana University School of Medicine , Indianapolis, IN , USA","Indiana Alzheimer\u2019s Disease Research Center, Indiana University School of Medicine , Indianapolis, IN , USA","Indiana University Network Science Institute , Bloomington, IN , USA"],"affiliations":[{"raw_affiliation_string":"Department of Medical and Molecular Genetics, Indiana University School of Medicine , Indianapolis, IN , USA","institution_ids":["https://openalex.org/I55769427","https://openalex.org/I4394709130"]},{"raw_affiliation_string":"Department of Radiology and Imaging Sciences, Center for Neuroimaging, Indiana University School of Medicine , Indianapolis, IN , USA","institution_ids":["https://openalex.org/I55769427","https://openalex.org/I4394709130"]},{"raw_affiliation_string":"Indiana Alzheimer\u2019s Disease Research Center, Indiana University School of Medicine , Indianapolis, IN , USA","institution_ids":["https://openalex.org/I55769427","https://openalex.org/I4394709130"]},{"raw_affiliation_string":"Indiana University Network Science Institute , Bloomington, IN , USA","institution_ids":["https://openalex.org/I4210119109"]}]},{"author_position":"last","author":{"id":null,"display_name":"For The Alzheimer\u2019s Disease Neuroimaging Initiative","orcid":null},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"For The Alzheimer\u2019s Disease Neuroimaging Initiative","raw_affiliation_strings":[],"affiliations":[]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":5,"corresponding_author_ids":["https://openalex.org/A5103134947"],"corresponding_institution_ids":["https://openalex.org/I4210119109","https://openalex.org/I4394709130","https://openalex.org/I55769427"],"apc_list":{"value":4011,"currency":"USD","value_usd":4011},"apc_paid":null,"fwci":12.9677,"has_fulltext":false,"cited_by_count":73,"citation_normalized_percentile":{"value":0.99080719,"is_in_top_1_percent":true,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":98,"max":100},"biblio":{"volume":"23","issue":"2","first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.9994999766349792,"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":0.9994999766349792,"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":0.9973000288009644,"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":0.9961000084877014,"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-intelligence","display_name":"Artificial intelligence","score":0.6896218657493591},{"id":"https://openalex.org/keywords/convolutional-neural-network","display_name":"Convolutional neural network","score":0.677811861038208},{"id":"https://openalex.org/keywords/deep-learning","display_name":"Deep learning","score":0.6614348292350769},{"id":"https://openalex.org/keywords/single-nucleotide-polymorphism","display_name":"Single-nucleotide polymorphism","score":0.6301398277282715},{"id":"https://openalex.org/keywords/genome-wide-association-study","display_name":"Genome-wide association study","score":0.6282256841659546},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.5985438823699951},{"id":"https://openalex.org/keywords/random-forest","display_name":"Random forest","score":0.558778703212738},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.47166645526885986},{"id":"https://openalex.org/keywords/machine-learning","display_name":"Machine learning","score":0.44957435131073},{"id":"https://openalex.org/keywords/pattern-recognition","display_name":"Pattern recognition (psychology)","score":0.38418087363243103},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.25610291957855225},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.23837822675704956},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.16575035452842712},{"id":"https://openalex.org/keywords/genotype","display_name":"Genotype","score":0.11425939202308655}],"concepts":[{"id":"https://openalex.org/C154945302","wikidata":"https://www.wikidata.org/wiki/Q11660","display_name":"Artificial intelligence","level":1,"score":0.6896218657493591},{"id":"https://openalex.org/C81363708","wikidata":"https://www.wikidata.org/wiki/Q17084460","display_name":"Convolutional neural network","level":2,"score":0.677811861038208},{"id":"https://openalex.org/C108583219","wikidata":"https://www.wikidata.org/wiki/Q197536","display_name":"Deep learning","level":2,"score":0.6614348292350769},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.6301398277282715},{"id":"https://openalex.org/C106208931","wikidata":"https://www.wikidata.org/wiki/Q1098876","display_name":"Genome-wide association study","level":5,"score":0.6282256841659546},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.5985438823699951},{"id":"https://openalex.org/C169258074","wikidata":"https://www.wikidata.org/wiki/Q245748","display_name":"Random forest","level":2,"score":0.558778703212738},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.47166645526885986},{"id":"https://openalex.org/C119857082","wikidata":"https://www.wikidata.org/wiki/Q2539","display_name":"Machine learning","level":1,"score":0.44957435131073},{"id":"https://openalex.org/C153180895","wikidata":"https://www.wikidata.org/wiki/Q7148389","display_name":"Pattern recognition (psychology)","level":2,"score":0.38418087363243103},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.25610291957855225},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.23837822675704956},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.16575035452842712},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.11425939202308655}],"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":"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":"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":"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":"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":"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":"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":"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":"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":"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":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D008279","descriptor_name":"Magnetic Resonance Imaging","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D008279","descriptor_name":"Magnetic Resonance Imaging","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D008279","descriptor_name":"Magnetic Resonance Imaging","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D008279","descriptor_name":"Magnetic Resonance Imaging","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D008279","descriptor_name":"Magnetic Resonance Imaging","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D008279","descriptor_name":"Magnetic Resonance Imaging","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D008279","descriptor_name":"Magnetic Resonance Imaging","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D008279","descriptor_name":"Magnetic Resonance Imaging","qualifier_ui":"Q000379","qualifier_name":"methods","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":"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":"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":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D060825","descriptor_name":"Cognitive Dysfunction","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D060825","descriptor_name":"Cognitive Dysfunction","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D060825","descriptor_name":"Cognitive Dysfunction","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D060825","descriptor_name":"Cognitive Dysfunction","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D060825","descriptor_name":"Cognitive Dysfunction","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D060825","descriptor_name":"Cognitive Dysfunction","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D060825","descriptor_name":"Cognitive Dysfunction","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D060825","descriptor_name":"Cognitive Dysfunction","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":4,"locations":[{"id":"doi:10.1093/bib/bbac022","is_oa":false,"landing_page_url":"https://doi.org/10.1093/bib/bbac022","pdf_url":null,"source":{"id":"https://openalex.org/S91767247","display_name":"Briefings in Bioinformatics","issn_l":"1467-5463","issn":["1467-5463","1477-4054"],"is_oa":false,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Briefings in Bioinformatics","raw_type":"journal-article"},{"id":"pmid:35183061","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/35183061","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":"Briefings in bioinformatics","raw_type":null},{"id":"pmh:oai:pubmedcentral.nih.gov:8921609","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/8921609","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","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":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Brief Bioinform","raw_type":"Text"},{"id":"pmh:oai:scholarworks.indianapolis.iu.edu:1805/36605","is_oa":false,"landing_page_url":"https://hdl.handle.net/1805/36605","pdf_url":null,"source":{"id":"https://openalex.org/S4306400987","display_name":"IUScholarWorks (Indiana University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I592451","host_organization_name":"Indiana University","host_organization_lineage":["https://openalex.org/I592451"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"PMC","raw_type":"Article"}],"best_oa_location":{"id":"pmh:oai:pubmedcentral.nih.gov:8921609","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/8921609","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","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":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Brief Bioinform","raw_type":"Text"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/15","score":0.4099999964237213,"display_name":"Life in Land"}],"awards":[{"id":"https://openalex.org/G2084909827","display_name":null,"funder_award_id":"R01 LM013463","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G3184167548","display_name":null,"funder_award_id":"R01 LM012535","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G4998769346","display_name":null,"funder_award_id":"R03 AG063250","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G5191696801","display_name":null,"funder_award_id":"R01 AG068193","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G6067778582","display_name":null,"funder_award_id":"T32 AG071444","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G6599288387","display_name":null,"funder_award_id":"R01 AG019771","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G661028523","display_name":null,"funder_award_id":"U01 AG068057","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G7752660333","display_name":null,"funder_award_id":"R01 AG057739","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G7854119329","display_name":null,"funder_award_id":"W81XWH-12-2-0012","funder_id":"https://openalex.org/F4320306078","funder_display_name":"U.S. Department of Defense"},{"id":"https://openalex.org/G8108636119","display_name":null,"funder_award_id":"P30 AG010133","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G8777512604","display_name":null,"funder_award_id":"P30 AG072976","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"}],"funders":[{"id":"https://openalex.org/F4320306078","display_name":"U.S. Department of Defense","ror":"https://ror.org/0447fe631"},{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":95,"referenced_works":["https://openalex.org/W569156507","https://openalex.org/W1019830208","https://openalex.org/W1484928190","https://openalex.org/W1498436455","https://openalex.org/W1522301498","https://openalex.org/W1535810436","https://openalex.org/W1552535138","https://openalex.org/W1665214252","https://openalex.org/W1901948746","https://openalex.org/W1984737558","https://openalex.org/W1990427889","https://openalex.org/W1995341919","https://openalex.org/W1999631936","https://openalex.org/W2001447756","https://openalex.org/W2003443990","https://openalex.org/W2005441052","https://openalex.org/W2009144436","https://openalex.org/W2014897304","https://openalex.org/W2036362108","https://openalex.org/W2037169299","https://openalex.org/W2040870580","https://openalex.org/W2064675550","https://openalex.org/W2075779886","https://openalex.org/W2079158266","https://openalex.org/W2086789740","https://openalex.org/W2088068024","https://openalex.org/W2088338354","https://openalex.org/W2104549677","https://openalex.org/W2105465844","https://openalex.org/W2125236697","https://openalex.org/W2143461767","https://openalex.org/W2146502635","https://openalex.org/W2153266207","https://openalex.org/W2161633633","https://openalex.org/W2163013660","https://openalex.org/W2163605009","https://openalex.org/W2163957306","https://openalex.org/W2198606573","https://openalex.org/W2274582236","https://openalex.org/W2336509392","https://openalex.org/W2477596418","https://openalex.org/W2499410212","https://openalex.org/W2510806376","https://openalex.org/W2556389549","https://openalex.org/W2565611518","https://openalex.org/W2586594127","https://openalex.org/W2589881680","https://openalex.org/W2782551527","https://openalex.org/W2786426577","https://openalex.org/W2892221324","https://openalex.org/W2899635607","https://openalex.org/W2899807648","https://openalex.org/W2900856701","https://openalex.org/W2901303766","https://openalex.org/W2908040686","https://openalex.org/W2911248861","https://openalex.org/W2911964244","https://openalex.org/W2913251325","https://openalex.org/W2949280410","https://openalex.org/W2950890882","https://openalex.org/W2952935243","https://openalex.org/W2964573658","https://openalex.org/W2964629181","https://openalex.org/W2964923834","https://openalex.org/W2976083417","https://openalex.org/W2977367243","https://openalex.org/W2982510384","https://openalex.org/W2991022372","https://openalex.org/W2994991934","https://openalex.org/W2995740283","https://openalex.org/W2996431818","https://openalex.org/W2998216295","https://openalex.org/W3007931728","https://openalex.org/W3040360568","https://openalex.org/W3091447885","https://openalex.org/W3115346491","https://openalex.org/W3116132399","https://openalex.org/W3121486818","https://openalex.org/W3122486793","https://openalex.org/W3126122061","https://openalex.org/W3128153416","https://openalex.org/W3130727496","https://openalex.org/W3139240024","https://openalex.org/W3139489282","https://openalex.org/W3144565954","https://openalex.org/W3155060369","https://openalex.org/W4210821588","https://openalex.org/W4299828299","https://openalex.org/W4385245566","https://openalex.org/W6631190155","https://openalex.org/W6637242042","https://openalex.org/W6681435938","https://openalex.org/W6684191040","https://openalex.org/W6739901393","https://openalex.org/W7066667914"],"related_works":["https://openalex.org/W4226493464","https://openalex.org/W4312417841","https://openalex.org/W4372048956","https://openalex.org/W3193565141","https://openalex.org/W3133861977","https://openalex.org/W4283582241","https://openalex.org/W2951211570","https://openalex.org/W3103566983","https://openalex.org/W3167935049","https://openalex.org/W3029198973"],"abstract_inverted_index":{"Deep":[0,16],"learning":[1,17,44,201],"is":[2,18],"a":[3,32,97,136,208,218,228],"promising":[4],"tool":[5],"that":[6,52],"uses":[7],"nonlinear":[8],"transformations":[9],"to":[10,45,56,88,110,134],"extract":[11],"features":[12],"from":[13,146],"high-dimensional":[14,26],"data.":[15,28],"challenging":[19],"in":[20],"genome-wide":[21,212],"association":[22],"studies":[23],"(GWAS)":[24],"with":[25,198],"genomic":[27],"Here":[29],"we":[30,66,103,127],"propose":[31],"novel":[33,209],"three-step":[34],"approach":[35,142,169],"(SWAT-CNN)":[36],"for":[37,181,221,227],"identification":[38],"of":[39,74,193,230],"genetic":[40,179],"variants":[41],"using":[42,96,143],"deep":[43,210],"identify":[46,117],"phenotype-related":[47],"single":[48],"nucleotide":[49],"polymorphisms":[50],"(SNPs)":[51],"can":[53],"be":[54],"applied":[55],"develop":[57,135],"accurate":[58],"disease":[59],"classification":[60,137,184,219],"models.":[61],"In":[62,92,123],"the":[63,68,93,107,124,147,171,176,190],"first":[64],"step,":[65,95,126],"divided":[67],"whole":[69],"genome":[70],"into":[71],"nonoverlapping":[72],"fragments":[73,109],"an":[75,187],"optimal":[76],"size":[77],"and":[78,116,164,205,217,223],"then":[79],"ran":[80,104,128],"convolutional":[81],"neural":[82],"network":[83],"(CNN)":[84],"on":[85,106,121,130],"each":[86],"fragment":[87],"select":[89],"phenotype-associated":[90,118],"fragments.":[91],"second":[94],"Sliding":[98],"Window":[99],"Association":[100],"Test":[101],"(SWAT),":[102],"CNN":[105,129],"selected":[108],"calculate":[111],"phenotype":[112],"influence":[113],"scores":[114],"(PIS)":[115],"SNPs":[119,133,216],"based":[120],"PIS.":[122],"third":[125],"all":[131],"identified":[132,170,214],"model.":[138],"We":[139],"tested":[140],"our":[141],"GWAS":[144],"data":[145],"Alzheimer's":[148],"Disease":[149],"Neuroimaging":[150],"Initiative":[151],"(ADNI)":[152],"including":[153],"(N":[154],"=":[155,162,166],"981;":[156],"cognitively":[157],"normal":[158],"older":[159],"adults":[160],"(CN)":[161],"650":[163],"AD":[165,222],"331).":[167],"Our":[168,183],"well-known":[172],"APOE":[173],"region":[174],"as":[175],"most":[177],"significant":[178],"locus":[180],"AD.":[182],"model":[185,220],"achieved":[186],"area":[188],"under":[189],"curve":[191],"(AUC)":[192],"0.82,":[194],"which":[195],"was":[196],"compatible":[197],"traditional":[199],"machine":[200],"approaches,":[202],"random":[203],"forest":[204],"XGBoost.":[206],"SWAT-CNN,":[207],"learning-based":[211],"approach,":[213],"AD-associated":[215],"may":[224],"hold":[225],"promise":[226],"range":[229],"biomedical":[231],"applications.":[232]},"counts_by_year":[{"year":2026,"cited_by_count":4},{"year":2025,"cited_by_count":23},{"year":2024,"cited_by_count":20},{"year":2023,"cited_by_count":20},{"year":2022,"cited_by_count":6}],"updated_date":"2026-04-14T08:04:32.555800","created_date":"2025-10-10T00:00:00"}