{"id":"https://openalex.org/W4410738078","doi":"https://doi.org/10.1109/tcbbio.2025.3572833","title":"Discovering Genetic Variants in Hypertrophic Cardiomyopathy With Multiple Machine Learning Techniques","display_name":"Discovering Genetic Variants in Hypertrophic Cardiomyopathy With Multiple Machine Learning Techniques","publication_year":2025,"publication_date":"2025-05-26","ids":{"openalex":"https://openalex.org/W4410738078","doi":"https://doi.org/10.1109/tcbbio.2025.3572833","pmid":"https://pubmed.ncbi.nlm.nih.gov/40811331"},"language":"en","primary_location":{"id":"doi:10.1109/tcbbio.2025.3572833","is_oa":true,"landing_page_url":"https://doi.org/10.1109/tcbbio.2025.3572833","pdf_url":null,"source":{"id":"https://openalex.org/S5407042751","display_name":"IEEE Transactions on Computational Biology and Bioinformatics","issn_l":"2998-4165","issn":["2998-4165"],"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":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"IEEE Transactions on Computational Biology and Bioinformatics","raw_type":"journal-article"},"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://doi.org/10.1109/tcbbio.2025.3572833","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5104504094","display_name":"Dafne Lozano-Paredes","orcid":"https://orcid.org/0000-0002-4521-0031"},"institutions":[{"id":"https://openalex.org/I182083151","display_name":"Universidad Rey Juan Carlos","ror":"https://ror.org/01v5cv687","country_code":"ES","type":"education","lineage":["https://openalex.org/I182083151"]}],"countries":["ES"],"is_corresponding":true,"raw_author_name":"Dafne Lozano-Paredes","raw_affiliation_strings":["Department of Signal Theory and Communications, Telematics, and Computing Systems, Universidad Rey Juan Carlos, Madrid, Spain","Department of Signal Theory and Communications, Universidad Rey Juan Carlos, Spain"],"affiliations":[{"raw_affiliation_string":"Department of Signal Theory and Communications, Telematics, and Computing Systems, Universidad Rey Juan Carlos, Madrid, Spain","institution_ids":["https://openalex.org/I182083151"]},{"raw_affiliation_string":"Department of Signal Theory and Communications, Universidad Rey Juan Carlos, Spain","institution_ids":["https://openalex.org/I182083151"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082609425","display_name":"Luis Bote-Curiel","orcid":"https://orcid.org/0000-0001-8845-2834"},"institutions":[{"id":"https://openalex.org/I182083151","display_name":"Universidad Rey Juan Carlos","ror":"https://ror.org/01v5cv687","country_code":"ES","type":"education","lineage":["https://openalex.org/I182083151"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Luis Bote-Curiel","raw_affiliation_strings":["Department of Signal Theory and Communications, Telematics, and Computing Systems, Universidad Rey Juan Carlos, Madrid, Spain","Department of Signal Theory and Communications, Universidad Rey Juan Carlos, Spain"],"affiliations":[{"raw_affiliation_string":"Department of Signal Theory and Communications, Telematics, and Computing Systems, Universidad Rey Juan Carlos, Madrid, Spain","institution_ids":["https://openalex.org/I182083151"]},{"raw_affiliation_string":"Department of Signal Theory and Communications, Universidad Rey Juan Carlos, Spain","institution_ids":["https://openalex.org/I182083151"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5072305978","display_name":"Mar\u00eda Sabater\u2010Molina","orcid":"https://orcid.org/0000-0003-1352-1748"},"institutions":[{"id":"https://openalex.org/I4210146619","display_name":"Instituto Murciano de Investigaci\u00f3n Biosanitaria","ror":"https://ror.org/053j10c72","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210146619"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Mar\u00eda Sabater-Molina","raw_affiliation_strings":["Cardiogenetics Laboratory, Instituto Murciano de Investigación Biosanitaria, Murcia, Spain","Cardiogenetics Laboratory, Instituto Murciano de Investigación Biosanitaria, Spain"],"affiliations":[{"raw_affiliation_string":"Cardiogenetics Laboratory, Instituto Murciano de Investigación Biosanitaria, Murcia, Spain","institution_ids":["https://openalex.org/I4210146619"]},{"raw_affiliation_string":"Cardiogenetics Laboratory, Instituto Murciano de Investigación Biosanitaria, Spain","institution_ids":["https://openalex.org/I4210146619"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5010920098","display_name":"Concha Bielza","orcid":"https://orcid.org/0000-0001-7109-2668"},"institutions":[{"id":"https://openalex.org/I88060688","display_name":"Universidad Polit\u00e9cnica de Madrid","ror":"https://ror.org/03n6nwv02","country_code":"ES","type":"education","lineage":["https://openalex.org/I88060688"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Concha Bielza","raw_affiliation_strings":["Department of Artificial Intelligence, Universidad Politécnica de Madrid, Madrid, Spain","Department of Artificial Intelligence, Universidad Politécnica de Madrid, Spain"],"affiliations":[{"raw_affiliation_string":"Department of Artificial Intelligence, Universidad Politécnica de Madrid, Madrid, Spain","institution_ids":["https://openalex.org/I88060688"]},{"raw_affiliation_string":"Department of Artificial Intelligence, Universidad Politécnica de Madrid, Spain","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5012026969","display_name":"Juan R. Gimeno","orcid":"https://orcid.org/0000-0001-5818-1754"},"institutions":[{"id":"https://openalex.org/I4210150677","display_name":"Hospital Universitario Virgen de la Arrixaca","ror":"https://ror.org/058thx797","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210150677"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Juan R Gimeno-Blanes","raw_affiliation_strings":["Familiar Cardiopathies Unit, Hospital Clínico Universitario Virgen de la Arrixaca, Murcia, Spain","Familiar Cardiopathies Unit, Hospital Clínico Universitario Virgen de la Arrixaca, Spain"],"affiliations":[{"raw_affiliation_string":"Familiar Cardiopathies Unit, Hospital Clínico Universitario Virgen de la Arrixaca, Murcia, Spain","institution_ids":["https://openalex.org/I4210150677"]},{"raw_affiliation_string":"Familiar Cardiopathies Unit, Hospital Clínico Universitario Virgen de la Arrixaca, Spain","institution_ids":["https://openalex.org/I4210150677"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5107194001","display_name":"Sergio Mu\u00f1oz-Romero","orcid":"https://orcid.org/0000-0003-1356-2646"},"institutions":[{"id":"https://openalex.org/I182083151","display_name":"Universidad Rey Juan Carlos","ror":"https://ror.org/01v5cv687","country_code":"ES","type":"education","lineage":["https://openalex.org/I182083151"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Sergio Mu\u00f1oz-Romero","raw_affiliation_strings":["Department of Signal Theory and Communications, Telematics, and Computing Systems, Universidad Rey Juan Carlos, Madrid, Spain","Department of Signal Theory and Communications, Universidad Rey Juan Carlos, Spain"],"affiliations":[{"raw_affiliation_string":"Department of Signal Theory and Communications, Telematics, and Computing Systems, Universidad Rey Juan Carlos, Madrid, Spain","institution_ids":["https://openalex.org/I182083151"]},{"raw_affiliation_string":"Department of Signal Theory and Communications, Universidad Rey Juan Carlos, Spain","institution_ids":["https://openalex.org/I182083151"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5090952886","display_name":"Francisco-Javier Gimeno-Blanes","orcid":"https://orcid.org/0000-0002-2727-2132"},"institutions":[{"id":"https://openalex.org/I111262870","display_name":"Universitat de Miguel Hern\u00e1ndez d'Elx","ror":"https://ror.org/01azzms13","country_code":"ES","type":"education","lineage":["https://openalex.org/I111262870"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"F Javier Gimeno-Blanes","raw_affiliation_strings":["Department of Signal Theory and Communications, Universidad Miguel Hernández, Alicante, Spain","Department of Signal Theory and Communications, Universidad Miguel Hernández, Spain"],"affiliations":[{"raw_affiliation_string":"Department of Signal Theory and Communications, Universidad Miguel Hernández, Alicante, Spain","institution_ids":["https://openalex.org/I111262870"]},{"raw_affiliation_string":"Department of Signal Theory and Communications, Universidad Miguel Hernández, Spain","institution_ids":["https://openalex.org/I111262870"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5049812833","display_name":"Pedro Larra\u00f1aga","orcid":"https://orcid.org/0000-0003-0652-9872"},"institutions":[{"id":"https://openalex.org/I88060688","display_name":"Universidad Polit\u00e9cnica de Madrid","ror":"https://ror.org/03n6nwv02","country_code":"ES","type":"education","lineage":["https://openalex.org/I88060688"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Pedro Larra\u00f1aga","raw_affiliation_strings":["Department of Artificial Intelligence, Universidad Politécnica de Madrid, Madrid, Spain","Department of Artificial Intelligence, Universidad Politécnica de Madrid, Spain"],"affiliations":[{"raw_affiliation_string":"Department of Artificial Intelligence, Universidad Politécnica de Madrid, Madrid, Spain","institution_ids":["https://openalex.org/I88060688"]},{"raw_affiliation_string":"Department of Artificial Intelligence, Universidad Politécnica de Madrid, Spain","institution_ids":[]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5051286582","display_name":"Jos\u00e9 Luis Rojo\u2010\u00c1lvarez","orcid":"https://orcid.org/0000-0003-0426-8912"},"institutions":[{"id":"https://openalex.org/I182083151","display_name":"Universidad Rey Juan Carlos","ror":"https://ror.org/01v5cv687","country_code":"ES","type":"education","lineage":["https://openalex.org/I182083151"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Jos\u00e9 Luis Rojo-\u00c1lvarez","raw_affiliation_strings":["Department of Signal Theory and Communications, Telematics, and Computing Systems, Universidad Rey Juan Carlos, Madrid, Spain","Department of Signal Theory and Communications, Universidad Rey Juan Carlos, Spain"],"affiliations":[{"raw_affiliation_string":"Department of Signal Theory and Communications, Telematics, and Computing Systems, Universidad Rey Juan Carlos, Madrid, Spain","institution_ids":["https://openalex.org/I182083151"]},{"raw_affiliation_string":"Department of Signal Theory and Communications, Universidad Rey Juan Carlos, Spain","institution_ids":["https://openalex.org/I182083151"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":9,"corresponding_author_ids":["https://openalex.org/A5104504094"],"corresponding_institution_ids":["https://openalex.org/I182083151"],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.25472409,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"22","issue":"4","first_page":"1822","last_page":"1835"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10882","display_name":"Cardiomyopathy and Myosin Studies","score":0.9851999878883362,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10882","display_name":"Cardiomyopathy and Myosin Studies","score":0.9851999878883362,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11677","display_name":"Congenital heart defects research","score":0.9537000060081482,"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":0.9024999737739563,"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/hypertrophic-cardiomyopathy","display_name":"Hypertrophic cardiomyopathy","score":0.7950112223625183},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.43063271045684814},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.41403788328170776},{"id":"https://openalex.org/keywords/cardiomyopathy","display_name":"Cardiomyopathy","score":0.41298460960388184},{"id":"https://openalex.org/keywords/artificial-intelligence","display_name":"Artificial intelligence","score":0.39077866077423096},{"id":"https://openalex.org/keywords/internal-medicine","display_name":"Internal medicine","score":0.3358686566352844},{"id":"https://openalex.org/keywords/medicine","display_name":"Medicine","score":0.28693097829818726},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.2582207918167114},{"id":"https://openalex.org/keywords/heart-failure","display_name":"Heart failure","score":0.0928652286529541}],"concepts":[{"id":"https://openalex.org/C2780185194","wikidata":"https://www.wikidata.org/wiki/Q1364270","display_name":"Hypertrophic cardiomyopathy","level":2,"score":0.7950112223625183},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.43063271045684814},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.41403788328170776},{"id":"https://openalex.org/C2778797674","wikidata":"https://www.wikidata.org/wiki/Q847583","display_name":"Cardiomyopathy","level":3,"score":0.41298460960388184},{"id":"https://openalex.org/C154945302","wikidata":"https://www.wikidata.org/wiki/Q11660","display_name":"Artificial intelligence","level":1,"score":0.39077866077423096},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.3358686566352844},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.28693097829818726},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.2582207918167114},{"id":"https://openalex.org/C2778198053","wikidata":"https://www.wikidata.org/wiki/Q181754","display_name":"Heart failure","level":2,"score":0.0928652286529541}],"mesh":[],"locations_count":2,"locations":[{"id":"doi:10.1109/tcbbio.2025.3572833","is_oa":true,"landing_page_url":"https://doi.org/10.1109/tcbbio.2025.3572833","pdf_url":null,"source":{"id":"https://openalex.org/S5407042751","display_name":"IEEE Transactions on Computational Biology and Bioinformatics","issn_l":"2998-4165","issn":["2998-4165"],"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":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"IEEE Transactions on Computational Biology and Bioinformatics","raw_type":"journal-article"},{"id":"pmid:40811331","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/40811331","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 transactions on computational biology and bioinformatics","raw_type":null}],"best_oa_location":{"id":"doi:10.1109/tcbbio.2025.3572833","is_oa":true,"landing_page_url":"https://doi.org/10.1109/tcbbio.2025.3572833","pdf_url":null,"source":{"id":"https://openalex.org/S5407042751","display_name":"IEEE Transactions on Computational Biology and Bioinformatics","issn_l":"2998-4165","issn":["2998-4165"],"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":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"IEEE Transactions on Computational Biology and Bioinformatics","raw_type":"journal-article"},"sustainable_development_goals":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":36,"referenced_works":["https://openalex.org/W1523303621","https://openalex.org/W1530964327","https://openalex.org/W1535063149","https://openalex.org/W1999597093","https://openalex.org/W2001619934","https://openalex.org/W2091239497","https://openalex.org/W2110065044","https://openalex.org/W2116514399","https://openalex.org/W2121044470","https://openalex.org/W2122350957","https://openalex.org/W2148732309","https://openalex.org/W2149992227","https://openalex.org/W2159080219","https://openalex.org/W2290195878","https://openalex.org/W2543164837","https://openalex.org/W2604837394","https://openalex.org/W2756203218","https://openalex.org/W2883585182","https://openalex.org/W2889326414","https://openalex.org/W2947802130","https://openalex.org/W2955578128","https://openalex.org/W2979316730","https://openalex.org/W2990344913","https://openalex.org/W3039248878","https://openalex.org/W3186209406","https://openalex.org/W4238805501","https://openalex.org/W4239510810","https://openalex.org/W4248855359","https://openalex.org/W4292180500","https://openalex.org/W4297891197","https://openalex.org/W4308475947","https://openalex.org/W4312226310","https://openalex.org/W4388994950","https://openalex.org/W4390450962","https://openalex.org/W6683161245","https://openalex.org/W6737947904"],"related_works":["https://openalex.org/W2006176619","https://openalex.org/W2373861710","https://openalex.org/W2220108563","https://openalex.org/W2022471030","https://openalex.org/W2111776020","https://openalex.org/W3031520143","https://openalex.org/W2328359336","https://openalex.org/W2571590689","https://openalex.org/W3084060530","https://openalex.org/W4405366489"],"abstract_inverted_index":{"Hypertrophic":[0],"cardiomyopathy":[1,52],"is":[2],"known":[3],"to":[4,41,173],"have":[5,13],"strong":[6],"genetic":[7,48,133,140],"foundations.":[8],"However,":[9],"only":[10],"some":[11],"studies":[12],"addressed":[14],"the":[15,25,60],"complex":[16],"network":[17],"of":[18,105,112,142,165],"co-expressed":[19],"genes":[20],"and":[21,44,96,118,129,196],"variants":[22,49,137,149,158,180],"that":[23],"modify":[24],"phenotype.":[26],"Machine":[27,168],"learning":[28,57,104,169],"methods":[29],"offer":[30],"robust":[31],"information":[32,134],"discovery":[33],"when":[34],"dealing":[35],"with":[36,59,132,155],"high-dimensional":[37],"datasets.":[38],"We":[39,125],"aimed":[40],"perform":[42],"relevance":[43,86,195],"interaction":[45],"analysis":[46],"on":[47,88],"from":[50,138],"hypertrophic":[51],"patients":[53,128],"using":[54],"diverse":[55],"machine":[56],"techniques,":[58],"following":[61],"stages:":[62],"(a)":[63],"Statistical":[64],"univariate":[65],"techniques":[66],"(with":[67],"various":[68],"$p$-value":[69],"adjustment":[70],"methods)":[71],"identified":[72,152],"relevant":[73],"variants;":[74],"(b)":[75],"Linear":[76],"classifiers":[77],"(support":[78],"vector":[79],"machines,":[80],"Fisher":[81],"discriminant":[82],"analysis)":[83],"provided":[84],"combined":[85],"based":[87],"feature":[89],"weights;":[90],"(c)":[91],"Informative":[92],"variable":[93],"identifier":[94],"method":[95],"Bayesian":[97],"networks":[98],"explained":[99],"inter-variant":[100],"relationships;":[101],"(d)":[102],"Manifold":[103],"low-dimensional":[106],"latent":[107],"spaces":[108],"gave":[109],"interpretable":[110],"representations":[111],"groups;":[113],"(e)":[114],"Linkage":[115],"disequilibrium":[116],"matrices":[117],"frequency":[119],"tables":[120],"discovered":[121],"associations":[122],"between":[123],"variants.":[124,199],"analyzed":[126],"61":[127],"67":[130],"controls":[131],"comprising":[135],"216":[136],"a":[139],"panel":[141],"15":[143],"genes.":[144],"Across":[145],"all":[146],"methodologies,":[147],"ten":[148],"were":[150],"consistently":[151],"as":[153],"significant,":[154],"22":[156],"total":[157],"significant":[159],"in":[160],"at":[161],"least":[162],"three":[163],"out":[164],"five":[166],"methods.":[167],"has":[170],"been":[171],"found":[172],"detect":[174],"disease-associated":[175],"variants,":[176],"including":[177],"pathogenic":[178],"founder":[179],"(11:47357494,":[181],"11:47360070,":[182],"11:47372137).":[183],"This":[184],"methodology":[185],"allows":[186],"for":[187,194],"identifying":[188],"potential":[189],"disease":[190],"modulators":[191],"while":[192],"accounting":[193],"interactions":[197],"among":[198]},"counts_by_year":[],"updated_date":"2025-11-06T03:46:38.306776","created_date":"2025-10-10T00:00:00"}