{"id":"https://openalex.org/W3017306235","doi":"https://doi.org/10.1109/tcbb.2020.2994649","title":"Convolutional Embedded Networks for Population Scale Clustering and Bio-Ancestry Inferencing","display_name":"Convolutional Embedded Networks for Population Scale Clustering and Bio-Ancestry Inferencing","publication_year":2020,"publication_date":"2020-05-18","ids":{"openalex":"https://openalex.org/W3017306235","doi":"https://doi.org/10.1109/tcbb.2020.2994649","mag":"3017306235","pmid":"https://pubmed.ncbi.nlm.nih.gov/32750845"},"language":"en","primary_location":{"id":"doi:10.1109/tcbb.2020.2994649","is_oa":true,"landing_page_url":"https://doi.org/10.1109/tcbb.2020.2994649","pdf_url":"https://ieeexplore.ieee.org/ielx7/8857/9702518/09095229.pdf","source":{"id":"https://openalex.org/S36029991","display_name":"IEEE/ACM Transactions on Computational Biology and Bioinformatics","issn_l":"1545-5963","issn":["1545-5963","1557-9964","2374-0043"],"is_oa":false,"is_in_doaj":false,"is_core":true,"host_organization":"https://openalex.org/P4310319808","host_organization_name":"Institute of Electrical and Electronics Engineers","host_organization_lineage":["https://openalex.org/P4310319808"],"host_organization_lineage_names":["Institute of Electrical and Electronics Engineers"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"IEEE/ACM Transactions on Computational Biology and Bioinformatics","raw_type":"journal-article"},"type":"preprint","indexed_in":["arxiv","crossref","datacite","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://ieeexplore.ieee.org/ielx7/8857/9702518/09095229.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5114549797","display_name":"Md. Rezaul Karim","orcid":"https://orcid.org/0000-0001-6804-9183"},"institutions":[{"id":"https://openalex.org/I4210110507","display_name":"Fraunhofer Institute for Applied Information Technology","ror":"https://ror.org/01ak24c12","country_code":"DE","type":"facility","lineage":["https://openalex.org/I4210110507","https://openalex.org/I4923324"]},{"id":"https://openalex.org/I887968799","display_name":"RWTH Aachen University","ror":"https://ror.org/04xfq0f34","country_code":"DE","type":"education","lineage":["https://openalex.org/I887968799"]}],"countries":["DE"],"is_corresponding":true,"raw_author_name":"Md. Rezaul Karim","raw_affiliation_strings":["Fraunhofer Institute for Applied Information Technology, Sankt Augustin, Germany","RWTH Aachen University, Aachen, Germany"],"affiliations":[{"raw_affiliation_string":"Fraunhofer Institute for Applied Information Technology, Sankt Augustin, Germany","institution_ids":["https://openalex.org/I4210110507"]},{"raw_affiliation_string":"RWTH Aachen University, Aachen, Germany","institution_ids":["https://openalex.org/I887968799"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5041317183","display_name":"Michael Cochez","orcid":"https://orcid.org/0000-0001-5726-4638"},"institutions":[{"id":"https://openalex.org/I865915315","display_name":"Vrije Universiteit Amsterdam","ror":"https://ror.org/008xxew50","country_code":"NL","type":"education","lineage":["https://openalex.org/I865915315"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Michael Cochez","raw_affiliation_strings":["Department of Computer Science, Vrije Universiteit Amsterdam, Amsterdam, Netherlands"],"affiliations":[{"raw_affiliation_string":"Department of Computer Science, Vrije Universiteit Amsterdam, Amsterdam, Netherlands","institution_ids":["https://openalex.org/I865915315"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5034664449","display_name":"Achille Zappa","orcid":"https://orcid.org/0000-0003-4040-9620"},"institutions":[{"id":"https://openalex.org/I188760350","display_name":"Ollscoil na Gaillimhe \u2013 University of Galway","ror":"https://ror.org/03bea9k73","country_code":"IE","type":"education","lineage":["https://openalex.org/I188760350"]}],"countries":["IE"],"is_corresponding":false,"raw_author_name":"Achille Zappa","raw_affiliation_strings":["Insight Centre for Data Analytics, National University of Ireland Galway, Galway, Ireland"],"affiliations":[{"raw_affiliation_string":"Insight Centre for Data Analytics, National University of Ireland Galway, Galway, Ireland","institution_ids":["https://openalex.org/I188760350"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5058460371","display_name":"Ratnesh Sahay","orcid":"https://orcid.org/0000-0003-4864-4174"},"institutions":[{"id":"https://openalex.org/I188760350","display_name":"Ollscoil na Gaillimhe \u2013 University of Galway","ror":"https://ror.org/03bea9k73","country_code":"IE","type":"education","lineage":["https://openalex.org/I188760350"]}],"countries":["IE"],"is_corresponding":false,"raw_author_name":"Ratnesh Sahay","raw_affiliation_strings":["Insight Centre for Data Analytics, National University of Ireland Galway, Galway, Ireland"],"affiliations":[{"raw_affiliation_string":"Insight Centre for Data Analytics, National University of Ireland Galway, Galway, Ireland","institution_ids":["https://openalex.org/I188760350"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Dietrich Rebholz-Schuhmann","orcid":"https://orcid.org/0000-0002-1018-0370"},"institutions":[{"id":"https://openalex.org/I180923762","display_name":"University of Cologne","ror":"https://ror.org/00rcxh774","country_code":"DE","type":"education","lineage":["https://openalex.org/I180923762"]},{"id":"https://openalex.org/I4210112663","display_name":"ZB MED - Information Centre for Life Sciences","ror":"https://ror.org/0259fwx54","country_code":"DE","type":"archive","lineage":["https://openalex.org/I4210112663"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Dietrich Rebholz-Schuhmann","raw_affiliation_strings":["German National Library of Medicine, University of Cologne, K\u00f6ln, Germany"],"affiliations":[{"raw_affiliation_string":"German National Library of Medicine, University of Cologne, K\u00f6ln, Germany","institution_ids":["https://openalex.org/I4210112663","https://openalex.org/I180923762"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5067635650","display_name":"Oya Beyan","orcid":"https://orcid.org/0000-0001-7611-3501"},"institutions":[{"id":"https://openalex.org/I4210110507","display_name":"Fraunhofer Institute for Applied Information Technology","ror":"https://ror.org/01ak24c12","country_code":"DE","type":"facility","lineage":["https://openalex.org/I4210110507","https://openalex.org/I4923324"]},{"id":"https://openalex.org/I887968799","display_name":"RWTH Aachen University","ror":"https://ror.org/04xfq0f34","country_code":"DE","type":"education","lineage":["https://openalex.org/I887968799"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Oya Beyan","raw_affiliation_strings":["Fraunhofer Institute for Applied Information Technology, Sankt Augustin, Germany","RWTH Aachen University, Aachen, Germany"],"affiliations":[{"raw_affiliation_string":"Fraunhofer Institute for Applied Information Technology, Sankt Augustin, Germany","institution_ids":["https://openalex.org/I4210110507"]},{"raw_affiliation_string":"RWTH Aachen University, Aachen, Germany","institution_ids":["https://openalex.org/I887968799"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5071104283","display_name":"Stefan Decker","orcid":"https://orcid.org/0000-0001-6324-7164"},"institutions":[{"id":"https://openalex.org/I4210110507","display_name":"Fraunhofer Institute for Applied Information Technology","ror":"https://ror.org/01ak24c12","country_code":"DE","type":"facility","lineage":["https://openalex.org/I4210110507","https://openalex.org/I4923324"]},{"id":"https://openalex.org/I887968799","display_name":"RWTH Aachen University","ror":"https://ror.org/04xfq0f34","country_code":"DE","type":"education","lineage":["https://openalex.org/I887968799"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Stefan Decker","raw_affiliation_strings":["Fraunhofer Institute for Applied Information Technology, Sankt Augustin, Germany","RWTH Aachen University, Aachen, Germany"],"affiliations":[{"raw_affiliation_string":"Fraunhofer Institute for Applied Information Technology, Sankt Augustin, Germany","institution_ids":["https://openalex.org/I4210110507"]},{"raw_affiliation_string":"RWTH Aachen University, Aachen, Germany","institution_ids":["https://openalex.org/I887968799"]}]}],"institutions":[],"countries_distinct_count":3,"institutions_distinct_count":7,"corresponding_author_ids":["https://openalex.org/A5114549797"],"corresponding_institution_ids":["https://openalex.org/I4210110507","https://openalex.org/I887968799"],"apc_list":null,"apc_paid":null,"fwci":0.3603,"has_fulltext":true,"cited_by_count":2,"citation_normalized_percentile":{"value":0.66495388,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":94},"biblio":{"volume":"19","issue":"1","first_page":"369","last_page":"382"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.9991000294685364,"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":0.9991000294685364,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10885","display_name":"Gene expression and cancer classification","score":0.9972000122070312,"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/T10887","display_name":"Bioinformatics and Genomic Networks","score":0.9891999959945679,"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/cluster-analysis","display_name":"Cluster analysis","score":0.6530000567436218},{"id":"https://openalex.org/keywords/artificial-intelligence","display_name":"Artificial intelligence","score":0.6519045233726501},{"id":"https://openalex.org/keywords/classifier","display_name":"Classifier (UML)","score":0.6363493204116821},{"id":"https://openalex.org/keywords/autoencoder","display_name":"Autoencoder","score":0.6346611976623535},{"id":"https://openalex.org/keywords/convolutional-neural-network","display_name":"Convolutional neural network","score":0.604809045791626},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.5832350850105286},{"id":"https://openalex.org/keywords/population","display_name":"Population","score":0.5115514397621155},{"id":"https://openalex.org/keywords/feature-selection","display_name":"Feature selection","score":0.49182581901550293},{"id":"https://openalex.org/keywords/machine-learning","display_name":"Machine learning","score":0.4558379650115967},{"id":"https://openalex.org/keywords/scalability","display_name":"Scalability","score":0.4546627402305603},{"id":"https://openalex.org/keywords/pattern-recognition","display_name":"Pattern recognition (psychology)","score":0.40284857153892517},{"id":"https://openalex.org/keywords/deep-learning","display_name":"Deep learning","score":0.3794044554233551},{"id":"https://openalex.org/keywords/data-mining","display_name":"Data mining","score":0.3390883803367615}],"concepts":[{"id":"https://openalex.org/C73555534","wikidata":"https://www.wikidata.org/wiki/Q622825","display_name":"Cluster analysis","level":2,"score":0.6530000567436218},{"id":"https://openalex.org/C154945302","wikidata":"https://www.wikidata.org/wiki/Q11660","display_name":"Artificial intelligence","level":1,"score":0.6519045233726501},{"id":"https://openalex.org/C95623464","wikidata":"https://www.wikidata.org/wiki/Q1096149","display_name":"Classifier (UML)","level":2,"score":0.6363493204116821},{"id":"https://openalex.org/C101738243","wikidata":"https://www.wikidata.org/wiki/Q786435","display_name":"Autoencoder","level":3,"score":0.6346611976623535},{"id":"https://openalex.org/C81363708","wikidata":"https://www.wikidata.org/wiki/Q17084460","display_name":"Convolutional neural network","level":2,"score":0.604809045791626},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.5832350850105286},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.5115514397621155},{"id":"https://openalex.org/C148483581","wikidata":"https://www.wikidata.org/wiki/Q446488","display_name":"Feature selection","level":2,"score":0.49182581901550293},{"id":"https://openalex.org/C119857082","wikidata":"https://www.wikidata.org/wiki/Q2539","display_name":"Machine learning","level":1,"score":0.4558379650115967},{"id":"https://openalex.org/C48044578","wikidata":"https://www.wikidata.org/wiki/Q727490","display_name":"Scalability","level":2,"score":0.4546627402305603},{"id":"https://openalex.org/C153180895","wikidata":"https://www.wikidata.org/wiki/Q7148389","display_name":"Pattern recognition (psychology)","level":2,"score":0.40284857153892517},{"id":"https://openalex.org/C108583219","wikidata":"https://www.wikidata.org/wiki/Q197536","display_name":"Deep learning","level":2,"score":0.3794044554233551},{"id":"https://openalex.org/C124101348","wikidata":"https://www.wikidata.org/wiki/Q172491","display_name":"Data mining","level":1,"score":0.3390883803367615},{"id":"https://openalex.org/C149923435","wikidata":"https://www.wikidata.org/wiki/Q37732","display_name":"Demography","level":1,"score":0.0},{"id":"https://openalex.org/C77088390","wikidata":"https://www.wikidata.org/wiki/Q8513","display_name":"Database","level":1,"score":0.0},{"id":"https://openalex.org/C144024400","wikidata":"https://www.wikidata.org/wiki/Q21201","display_name":"Sociology","level":0,"score":0.0}],"mesh":[{"descriptor_ui":"D000069550","descriptor_name":"Machine Learning","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D000069550","descriptor_name":"Machine Learning","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D000069550","descriptor_name":"Machine Learning","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D000465","descriptor_name":"Algorithms","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000465","descriptor_name":"Algorithms","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000465","descriptor_name":"Algorithms","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":"D016000","descriptor_name":"Cluster Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016000","descriptor_name":"Cluster Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016000","descriptor_name":"Cluster Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016571","descriptor_name":"Neural Networks, Computer","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D016571","descriptor_name":"Neural Networks, Computer","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D016571","descriptor_name":"Neural Networks, Computer","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":8,"locations":[{"id":"doi:10.1109/tcbb.2020.2994649","is_oa":true,"landing_page_url":"https://doi.org/10.1109/tcbb.2020.2994649","pdf_url":"https://ieeexplore.ieee.org/ielx7/8857/9702518/09095229.pdf","source":{"id":"https://openalex.org/S36029991","display_name":"IEEE/ACM Transactions on Computational Biology and Bioinformatics","issn_l":"1545-5963","issn":["1545-5963","1557-9964","2374-0043"],"is_oa":false,"is_in_doaj":false,"is_core":true,"host_organization":"https://openalex.org/P4310319808","host_organization_name":"Institute of Electrical and Electronics Engineers","host_organization_lineage":["https://openalex.org/P4310319808"],"host_organization_lineage_names":["Institute of Electrical and Electronics Engineers"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"IEEE/ACM Transactions on Computational Biology and Bioinformatics","raw_type":"journal-article"},{"id":"pmid:32750845","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/32750845","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":"IEEE/ACM transactions on computational biology and bioinformatics","raw_type":null},{"id":"pmh:oai:USBKOELN.ub.uni-koeln.de:67958","is_oa":false,"landing_page_url":null,"pdf_url":null,"source":{"id":"https://openalex.org/S4306400371","display_name":"K\u00f6lner Universit\u00e4ts PublikationsServer (Universit\u00e4t zu K\u00f6ln)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I4210115942","host_organization_name":"Rhenish Institute for Environmental Research","host_organization_lineage":["https://openalex.org/I4210115942"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"","raw_type":"doc-type:article"},{"id":"pmh:oai:arXiv.org:1805.12218","is_oa":true,"landing_page_url":"http://arxiv.org/abs/1805.12218","pdf_url":"https://arxiv.org/pdf/1805.12218","source":{"id":"https://openalex.org/S4306400194","display_name":"arXiv (Cornell University)","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I205783295","host_organization_name":"Cornell University","host_organization_lineage":["https://openalex.org/I205783295"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"text"},{"id":"mag:3017306235","is_oa":true,"landing_page_url":"https://arxiv.org/pdf/1805.12218.pdf","pdf_url":null,"source":{"id":"https://openalex.org/S4306400194","display_name":"arXiv (Cornell University)","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I205783295","host_organization_name":"Cornell University","host_organization_lineage":["https://openalex.org/I205783295"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"arXiv (Cornell University)","raw_type":null},{"id":"pmh:oai:null:publica/425991","is_oa":false,"landing_page_url":"https://publica.fraunhofer.de/handle/publica/425991","pdf_url":null,"source":{"id":"https://openalex.org/S4306400318","display_name":"Fraunhofer-Publica (Fraunhofer-Gesellschaft)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I4923324","host_organization_name":"Fraunhofer-Gesellschaft","host_organization_lineage":["https://openalex.org/I4923324"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"journal article"},{"id":"pmh:vu:oai:research.vu.nl:publications/ecfc2c20-2cfd-43da-8172-c56e1d134eda","is_oa":true,"landing_page_url":"https://research.vu.nl/en/publications/ecfc2c20-2cfd-43da-8172-c56e1d134eda","pdf_url":null,"source":{"id":"https://openalex.org/S4306401843","display_name":"Data Archiving and Networked Services (DANS)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I1322597698","host_organization_name":"Royal Netherlands Academy of Arts and Sciences","host_organization_lineage":["https://openalex.org/I1322597698"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"IEEE/ACM Transactions on Computational Biology and Bioinformatics, 19(1), 369 - 382. Institute of Electrical and Electronics Engineers Inc.","raw_type":"info:eu-repo/semantics/article"},{"id":"doi:10.48550/arxiv.1805.12218","is_oa":true,"landing_page_url":"https://doi.org/10.48550/arxiv.1805.12218","pdf_url":null,"source":{"id":"https://openalex.org/S4306400194","display_name":"arXiv (Cornell University)","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I205783295","host_organization_name":"Cornell University","host_organization_lineage":["https://openalex.org/I205783295"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":null,"is_accepted":false,"is_published":null,"raw_source_name":null,"raw_type":"article"}],"best_oa_location":{"id":"doi:10.1109/tcbb.2020.2994649","is_oa":true,"landing_page_url":"https://doi.org/10.1109/tcbb.2020.2994649","pdf_url":"https://ieeexplore.ieee.org/ielx7/8857/9702518/09095229.pdf","source":{"id":"https://openalex.org/S36029991","display_name":"IEEE/ACM Transactions on Computational Biology and Bioinformatics","issn_l":"1545-5963","issn":["1545-5963","1557-9964","2374-0043"],"is_oa":false,"is_in_doaj":false,"is_core":true,"host_organization":"https://openalex.org/P4310319808","host_organization_name":"Institute of Electrical and Electronics Engineers","host_organization_lineage":["https://openalex.org/P4310319808"],"host_organization_lineage_names":["Institute of Electrical and Electronics Engineers"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"IEEE/ACM Transactions on Computational Biology and Bioinformatics","raw_type":"journal-article"},"sustainable_development_goals":[],"awards":[],"funders":[],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W3017306235.pdf","grobid_xml":"https://content.openalex.org/works/W3017306235.grobid-xml"},"referenced_works_count":72,"referenced_works":["https://openalex.org/W6908809","https://openalex.org/W104184427","https://openalex.org/W107619411","https://openalex.org/W1531910981","https://openalex.org/W1983334819","https://openalex.org/W1991133698","https://openalex.org/W2007503991","https://openalex.org/W2033178790","https://openalex.org/W2033403400","https://openalex.org/W2034795216","https://openalex.org/W2049881004","https://openalex.org/W2060300932","https://openalex.org/W2071949631","https://openalex.org/W2095705004","https://openalex.org/W2096791516","https://openalex.org/W2097325658","https://openalex.org/W2097645701","https://openalex.org/W2104549677","https://openalex.org/W2106538068","https://openalex.org/W2111873253","https://openalex.org/W2119444539","https://openalex.org/W2119936645","https://openalex.org/W2120303002","https://openalex.org/W2122007969","https://openalex.org/W2134850257","https://openalex.org/W2138615112","https://openalex.org/W2149195137","https://openalex.org/W2173649752","https://openalex.org/W2187089797","https://openalex.org/W2189371416","https://openalex.org/W2191556466","https://openalex.org/W2195031595","https://openalex.org/W2222512263","https://openalex.org/W2256016639","https://openalex.org/W2436219157","https://openalex.org/W2586952891","https://openalex.org/W2609272369","https://openalex.org/W2726539084","https://openalex.org/W2766563555","https://openalex.org/W2767896478","https://openalex.org/W2770671706","https://openalex.org/W2784962210","https://openalex.org/W2786935817","https://openalex.org/W2787801451","https://openalex.org/W2806534560","https://openalex.org/W2807828695","https://openalex.org/W2884851420","https://openalex.org/W2886761756","https://openalex.org/W2889381121","https://openalex.org/W2943464153","https://openalex.org/W2952186199","https://openalex.org/W2952978770","https://openalex.org/W2962862931","https://openalex.org/W2964074409","https://openalex.org/W2964236544","https://openalex.org/W2968476580","https://openalex.org/W2971452902","https://openalex.org/W2972391117","https://openalex.org/W2972392269","https://openalex.org/W2974062192","https://openalex.org/W2991530390","https://openalex.org/W3000157488","https://openalex.org/W3003753408","https://openalex.org/W3123831349","https://openalex.org/W4244030505","https://openalex.org/W6680970901","https://openalex.org/W6685380521","https://openalex.org/W6737947904","https://openalex.org/W6746162024","https://openalex.org/W6748152262","https://openalex.org/W6748483046","https://openalex.org/W6751676439"],"related_works":["https://openalex.org/W3027249454","https://openalex.org/W3090465309","https://openalex.org/W2333641437","https://openalex.org/W3187200631","https://openalex.org/W2527273336","https://openalex.org/W1973777977","https://openalex.org/W3026130375","https://openalex.org/W1975612392","https://openalex.org/W2773545571","https://openalex.org/W2962936833","https://openalex.org/W3189939775","https://openalex.org/W2198237507","https://openalex.org/W2753944919","https://openalex.org/W3012983360","https://openalex.org/W2620185144","https://openalex.org/W1053731559","https://openalex.org/W2341539196","https://openalex.org/W2030734645","https://openalex.org/W1941524270","https://openalex.org/W2982098954"],"abstract_inverted_index":{"The":[0],"study":[1],"of":[2,54,66,74,210,217,224,236,248,257,292],"genetic":[3],"variants":[4],"(GVs)":[5],"can":[6,81,196,231],"help":[7],"find":[8],"correlating":[9],"population":[10,199],"groups":[11,200],"and":[12,22,28,64,93,122,130,158,171,179,191,219,242,250,269,279,285],"to":[13,19,32,41,45,143,254,289],"identify":[14,42,261],"cohorts":[15],"that":[16,85,182],"are":[17,37],"predisposed":[18],"common":[20],"diseases":[21],"explain":[23],"differences":[24],"in":[25,110,201],"disease":[26],"susceptibility":[27],"how":[29],"patients":[30],"react":[31],"drugs.":[33],"Machine":[34],"learning":[35,56,142],"techniques":[36],"increasingly":[38],"being":[39],"applied":[40],"interacting":[43],"GVs":[44,88,146],"understand":[46],"their":[47],"complex":[48],"phenotypic":[49],"traits.":[50],"Since":[51],"the":[52,62,67,72,148,212,220,228,233,258,282,293],"performance":[53],"a":[55,175],"algorithm":[57],"not":[58],"only":[59],"depends":[60],"on":[61,71,135,177],"size":[63],"nature":[65],"data":[68,89],"but":[69],"also":[70],"quality":[73],"underlying":[75],"representation,":[76],"deep":[77],"neural":[78],"networks":[79,108],"(DNNs)":[80],"learn":[82],"non-linear":[83],"mappings":[84],"allow":[86],"transforming":[87],"into":[90],"more":[91],"clustering":[92,120,128,221],"classification":[94],"friendly":[95],"representations":[96],"than":[97,281],"manual":[98],"feature":[99],"selection.":[100],"In":[101,193],"this":[102],"paper,":[103],"we":[104,112,260],"propose":[105],"convolutional":[106,118,123],"embedded":[107,119],"(CEN)":[109],"which":[111],"combine":[113],"two":[114],"DNN":[115],"architectures":[116],"called":[117],"(CEC)":[121],"autoencoder":[124],"(CAE)":[125],"classifier":[126,230],"for":[127,287],"individuals":[129,153,164],"predicting":[131],"geographic":[132,234],"ethnicity":[133,235],"based":[134],"GVs,":[136],"respectively.":[137,252],"We":[138],"employed":[139],"CAE-based":[140],"representation":[141],"95":[144],"million":[145],"from":[147,154,165],"'1000":[149],"genomes'":[150],"(covering":[151,162],"2,504":[152],"26":[155],"ethnic":[156,167],"origins)":[157,168],"'Simons":[159],"genome":[160],"diversity'":[161],"279":[163],"130":[166],"projects.":[169],"Quantitative":[170],"qualitative":[172],"analyses":[173],"with":[174,204,239],"focus":[176],"accuracy":[178,222],"scalability":[180],"show":[181],"our":[183,275],"approach":[184,276],"outperforms":[185],"state-of-the-art":[186],"approaches":[187],"such":[188],"as":[189],"VariantSpark":[190],"ADMIXTURE.":[192],"particular,":[194],"CEC":[195],"cluster":[197],"targeted":[198],"22":[202],"hours":[203],"an":[205,240],"adjusted":[206],"rand":[207],"index":[208],"(ARI)":[209],"0.915,":[211],"normalized":[213],"mutual":[214],"information":[215],"(NMI)":[216],"0.92,":[218],"(ACC)":[223],"89":[225],"percent.":[226],"Contrarily,":[227],"CAE":[229],"predict":[232],"unknown":[237],"samples":[238],"F1":[241],"Mathews":[243],"correlation":[244],"coefficient":[245],"(MCC)":[246],"score":[247],"0.9004":[249],"0.8245,":[251],"Further,":[253],"provide":[255],"interpretations":[256],"predictions,":[259],"significant":[262],"biomarkers":[263],"using":[264],"gradient":[265],"boosted":[266],"trees":[267],"(GBT)":[268],"SHapley":[270],"Additive":[271],"exPlanations":[272],"(SHAP).":[273],"Overall,":[274],"is":[277],"transparent":[278],"faster":[280],"baseline":[283],"methods,":[284],"scalable":[286],"5":[288],"100":[290],"percent":[291],"full":[294],"human":[295],"genome.":[296]},"counts_by_year":[{"year":2023,"cited_by_count":1},{"year":2021,"cited_by_count":1}],"updated_date":"2026-04-05T17:49:38.594831","created_date":"2025-10-10T00:00:00"}