{"id":"https://openalex.org/W4292794678","doi":"https://doi.org/10.1109/jbhi.2022.3200966","title":"Using Machine Learning for Predicting the Effect of Mutations in the Initiation Codon","display_name":"Using Machine Learning for Predicting the Effect of Mutations in the Initiation Codon","publication_year":2022,"publication_date":"2022-08-23","ids":{"openalex":"https://openalex.org/W4292794678","doi":"https://doi.org/10.1109/jbhi.2022.3200966","pmid":"https://pubmed.ncbi.nlm.nih.gov/35998169"},"language":"en","primary_location":{"id":"doi:10.1109/jbhi.2022.3200966","is_oa":false,"landing_page_url":"https://doi.org/10.1109/jbhi.2022.3200966","pdf_url":null,"source":{"id":"https://openalex.org/S2495854775","display_name":"IEEE Journal of Biomedical and Health Informatics","issn_l":"2168-2194","issn":["2168-2194","2168-2208"],"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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"IEEE Journal of Biomedical and Health Informatics","raw_type":"journal-article"},"type":"article","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/A5019882910","display_name":"Javier Castell-D\u00edaz","orcid":"https://orcid.org/0000-0001-6923-2174"},"institutions":[{"id":"https://openalex.org/I80180929","display_name":"Universidad de Murcia","ror":"https://ror.org/03p3aeb86","country_code":"ES","type":"education","lineage":["https://openalex.org/I80180929"]}],"countries":["ES"],"is_corresponding":true,"raw_author_name":"J. Castell-Diaz","raw_affiliation_strings":["Departamento de Inform&#x00E1;tica y Sistemas, Universidad de Murcia, Murcia, Spain"],"affiliations":[{"raw_affiliation_string":"Departamento de Inform&#x00E1;tica y Sistemas, Universidad de Murcia, Murcia, Spain","institution_ids":["https://openalex.org/I80180929"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5001748313","display_name":"Francisco Abad-Navarro","orcid":"https://orcid.org/0000-0003-0201-3115"},"institutions":[{"id":"https://openalex.org/I80180929","display_name":"Universidad de Murcia","ror":"https://ror.org/03p3aeb86","country_code":"ES","type":"education","lineage":["https://openalex.org/I80180929"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"F. Abad-Navarro","raw_affiliation_strings":["Departamento de Inform&#x00E1;tica y Sistemas, Universidad de Murcia, Murcia, Spain"],"affiliations":[{"raw_affiliation_string":"Departamento de Inform&#x00E1;tica y Sistemas, Universidad de Murcia, Murcia, Spain","institution_ids":["https://openalex.org/I80180929"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5038810791","display_name":"Mar\u00eda Eugenia de la Morena\u2010Barrio","orcid":"https://orcid.org/0000-0001-7426-4947"},"institutions":[{"id":"https://openalex.org/I4210115362","display_name":"Centro Regional de Hemodonaci\u00f3n","ror":"https://ror.org/02a57s352","country_code":"ES","type":"other","lineage":["https://openalex.org/I4210115362"]},{"id":"https://openalex.org/I80180929","display_name":"Universidad de Murcia","ror":"https://ror.org/03p3aeb86","country_code":"ES","type":"education","lineage":["https://openalex.org/I80180929"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"M. E. de la Morena-Barrio","raw_affiliation_strings":["Servicio de Hematolog&#x00ED;a y Oncolog&#x00ED;a M&#x00E9;dica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonaci&#x00F3;n, Universidad de Murcia, Murcia, Spain"],"affiliations":[{"raw_affiliation_string":"Servicio de Hematolog&#x00ED;a y Oncolog&#x00ED;a M&#x00E9;dica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonaci&#x00F3;n, Universidad de Murcia, Murcia, Spain","institution_ids":["https://openalex.org/I4210115362","https://openalex.org/I80180929"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5000211435","display_name":"Javier Corral","orcid":"https://orcid.org/0000-0003-0288-1107"},"institutions":[{"id":"https://openalex.org/I4210161579","display_name":"Instituto de Investigaci\u00f3n de Enfermedades Raras","ror":"https://ror.org/05mwdqq98","country_code":"ES","type":"facility","lineage":["https://openalex.org/I2801357902","https://openalex.org/I4210161579","https://openalex.org/I4387152914"]},{"id":"https://openalex.org/I2801357902","display_name":"Instituto de Salud Carlos III","ror":"https://ror.org/00ca2c886","country_code":"ES","type":"funder","lineage":["https://openalex.org/I2801357902","https://openalex.org/I4387152914"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"J. Corral","raw_affiliation_strings":["Centro de Investigaci&#x00F3;n Biom&#x00E9;dica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain"],"affiliations":[{"raw_affiliation_string":"Centro de Investigaci&#x00F3;n Biom&#x00E9;dica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain","institution_ids":["https://openalex.org/I4210161579","https://openalex.org/I2801357902"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5086790858","display_name":"Jesualdo Tom\u00e1s Fern\u00e1ndez\u2010Breis","orcid":"https://orcid.org/0000-0002-7558-2880"},"institutions":[{"id":"https://openalex.org/I80180929","display_name":"Universidad de Murcia","ror":"https://ror.org/03p3aeb86","country_code":"ES","type":"education","lineage":["https://openalex.org/I80180929"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"J. T. Fernandez-Breis","raw_affiliation_strings":["Departamento de Inform&#x00E1;tica y Sistemas, Universidad de Murcia, Murcia, Spain"],"affiliations":[{"raw_affiliation_string":"Departamento de Inform&#x00E1;tica y Sistemas, Universidad de Murcia, Murcia, Spain","institution_ids":["https://openalex.org/I80180929"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":5,"corresponding_author_ids":["https://openalex.org/A5019882910"],"corresponding_institution_ids":["https://openalex.org/I80180929"],"apc_list":null,"apc_paid":null,"fwci":0.5154,"has_fulltext":false,"cited_by_count":6,"citation_normalized_percentile":{"value":0.61428382,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":98},"biblio":{"volume":"26","issue":"11","first_page":"5750","last_page":"5756"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10521","display_name":"RNA and protein synthesis mechanisms","score":0.9998999834060669,"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/T10521","display_name":"RNA and protein synthesis mechanisms","score":0.9998999834060669,"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":0.9975000023841858,"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/T11482","display_name":"RNA modifications and cancer","score":0.9955999851226807,"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/mutation","display_name":"Mutation","score":0.6175171136856079},{"id":"https://openalex.org/keywords/ensembl","display_name":"Ensembl","score":0.5468490123748779},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.4894472658634186},{"id":"https://openalex.org/keywords/translation","display_name":"Translation (biology)","score":0.4876505136489868},{"id":"https://openalex.org/keywords/artificial-intelligence","display_name":"Artificial intelligence","score":0.48709964752197266},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.4755927324295044},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.4270079433917999},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.3417665660381317},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.24256479740142822},{"id":"https://openalex.org/keywords/genomics","display_name":"Genomics","score":0.16862350702285767},{"id":"https://openalex.org/keywords/genome","display_name":"Genome","score":0.12092861533164978},{"id":"https://openalex.org/keywords/messenger-rna","display_name":"Messenger RNA","score":0.1037340760231018}],"concepts":[{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.6175171136856079},{"id":"https://openalex.org/C141674004","wikidata":"https://www.wikidata.org/wiki/Q1344256","display_name":"Ensembl","level":5,"score":0.5468490123748779},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.4894472658634186},{"id":"https://openalex.org/C149364088","wikidata":"https://www.wikidata.org/wiki/Q185917","display_name":"Translation (biology)","level":4,"score":0.4876505136489868},{"id":"https://openalex.org/C154945302","wikidata":"https://www.wikidata.org/wiki/Q11660","display_name":"Artificial intelligence","level":1,"score":0.48709964752197266},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.4755927324295044},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4270079433917999},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3417665660381317},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.24256479740142822},{"id":"https://openalex.org/C189206191","wikidata":"https://www.wikidata.org/wiki/Q222046","display_name":"Genomics","level":4,"score":0.16862350702285767},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.12092861533164978},{"id":"https://openalex.org/C105580179","wikidata":"https://www.wikidata.org/wiki/Q188928","display_name":"Messenger RNA","level":3,"score":0.1037340760231018}],"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":"D003062","descriptor_name":"Codon","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D003062","descriptor_name":"Codon","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D003062","descriptor_name":"Codon","qualifier_ui":"Q000235","qualifier_name":"genetics","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":"D009154","descriptor_name":"Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D018387","descriptor_name":"Codon, Initiator","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018387","descriptor_name":"Codon, Initiator","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018387","descriptor_name":"Codon, Initiator","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1109/jbhi.2022.3200966","is_oa":false,"landing_page_url":"https://doi.org/10.1109/jbhi.2022.3200966","pdf_url":null,"source":{"id":"https://openalex.org/S2495854775","display_name":"IEEE Journal of Biomedical and Health Informatics","issn_l":"2168-2194","issn":["2168-2194","2168-2208"],"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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"IEEE Journal of Biomedical and Health Informatics","raw_type":"journal-article"},{"id":"pmid:35998169","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/35998169","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 journal of biomedical and health informatics","raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":46,"referenced_works":["https://openalex.org/W1594031697","https://openalex.org/W1967320885","https://openalex.org/W1988790447","https://openalex.org/W2005041712","https://openalex.org/W2006960439","https://openalex.org/W2009797711","https://openalex.org/W2033184625","https://openalex.org/W2043690331","https://openalex.org/W2051978340","https://openalex.org/W2056132907","https://openalex.org/W2059145105","https://openalex.org/W2070493638","https://openalex.org/W2097726306","https://openalex.org/W2101234009","https://openalex.org/W2124940540","https://openalex.org/W2127986230","https://openalex.org/W2129952088","https://openalex.org/W2131498344","https://openalex.org/W2143238378","https://openalex.org/W2148143831","https://openalex.org/W2149308034","https://openalex.org/W2154128645","https://openalex.org/W2160995259","https://openalex.org/W2282909996","https://openalex.org/W2521967673","https://openalex.org/W2551429935","https://openalex.org/W2561981131","https://openalex.org/W2751686252","https://openalex.org/W2805782192","https://openalex.org/W2808071711","https://openalex.org/W2890119973","https://openalex.org/W2911964244","https://openalex.org/W2953301805","https://openalex.org/W2953328427","https://openalex.org/W2983394854","https://openalex.org/W3016443350","https://openalex.org/W3046471568","https://openalex.org/W3136882821","https://openalex.org/W3161372396","https://openalex.org/W3213853244","https://openalex.org/W4205247356","https://openalex.org/W4212883601","https://openalex.org/W4229452760","https://openalex.org/W4239510810","https://openalex.org/W4393636223","https://openalex.org/W6675354045"],"related_works":["https://openalex.org/W2156564520","https://openalex.org/W4307843054","https://openalex.org/W2104570606","https://openalex.org/W4210430020","https://openalex.org/W4250611210","https://openalex.org/W2112118427","https://openalex.org/W4205247356","https://openalex.org/W2464717012","https://openalex.org/W2146849562","https://openalex.org/W2028961943"],"abstract_inverted_index":{"The":[0],"effect":[1,63,80],"of":[2,17,36,54,64,81,98,147,152,158,160,173],"mutations":[3,30,42,65,82],"has":[4,112],"been":[5,113],"traditionally":[6],"predicted":[7],"by":[8],"studying":[9],"what":[10],"may":[11,26],"happen":[12],"due":[13],"to":[14,104,130],"the":[15,34,37,44,52,55,62,67,79,84,102,136,156,161],"substitution":[16],"one":[18],"amino":[19],"acid":[20],"for":[21,29,41,60,77,170],"another":[22],"one.":[23],"This":[24],"approach":[25],"be":[27],"effective":[28],"with":[31,144],"impact":[32],"in":[33,43,66,83,135],"function":[35],"protein,":[38],"but":[39],"ineffective":[40],"translation":[45,68,86],"initiation":[46,69,87,108,138],"codon.":[47,109],"Such":[48],"mutation":[49,134],"might":[50],"avoid":[51],"generation":[53],"protein.":[56],"Consequently,":[57],"specific":[58,96],"methods":[59],"predicting":[61,78],"codon":[70,88,139],"are":[71],"needed.":[72],"We":[73],"propose":[74],"a":[75,91,105,133,145],"method":[76],"canonical":[85,137],"based":[89],"on":[90],"biological":[92],"model":[93,127],"that":[94],"considers":[95],"features":[97],"such":[99,164],"mutations,":[100],"like":[101],"distance":[103],"potential":[106],"alternative":[107],"Our":[110,125],"predictor":[111],"developed":[114],"using":[115],"tree-based":[116],"machine":[117],"learning":[118],"algorithms":[119],"and":[120,149],"data":[121],"extracted":[122],"from":[123],"Ensembl.":[124],"final":[126],"is":[128,140],"able":[129],"detect":[131],"whether":[132],"deleterious":[141],"or":[142,168],"benign":[143],"precision":[146],"44.28%":[148],"an":[150],"accuracy":[151],"98.32%,":[153],"which":[154],"improves":[155],"results":[157],"state":[159],"art":[162],"tools":[163],"as":[165],"PolyPhen,":[166],"SIFT,":[167],"CADD":[169],"this":[171],"type":[172],"mutation.":[174]},"counts_by_year":[{"year":2025,"cited_by_count":5},{"year":2023,"cited_by_count":1}],"updated_date":"2026-03-01T08:55:55.761014","created_date":"2025-10-10T00:00:00"}
