{"id":"https://openalex.org/W3095106256","doi":"https://doi.org/10.1109/access.2020.3034793","title":"Towards the Understanding of the Human Genome: A Holistic Conceptual Modeling Approach","display_name":"Towards the Understanding of the Human Genome: A Holistic Conceptual Modeling Approach","publication_year":2020,"publication_date":"2020-01-01","ids":{"openalex":"https://openalex.org/W3095106256","doi":"https://doi.org/10.1109/access.2020.3034793","mag":"3095106256"},"language":"en","primary_location":{"id":"doi:10.1109/access.2020.3034793","is_oa":true,"landing_page_url":"https://doi.org/10.1109/access.2020.3034793","pdf_url":"https://ieeexplore.ieee.org/ielx7/6287639/8948470/09244049.pdf","source":{"id":"https://openalex.org/S2485537415","display_name":"IEEE Access","issn_l":"2169-3536","issn":["2169-3536"],"is_oa":true,"is_in_doaj":true,"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 Access","raw_type":"journal-article"},"type":"article","indexed_in":["crossref","doaj"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://ieeexplore.ieee.org/ielx7/6287639/8948470/09244049.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5008989819","display_name":"Alberto Garc\u00eda S.","orcid":"https://orcid.org/0000-0001-5910-4363"},"institutions":[{"id":"https://openalex.org/I60053951","display_name":"Universitat Polit\u00e8cnica de Val\u00e8ncia","ror":"https://ror.org/01460j859","country_code":"ES","type":"education","lineage":["https://openalex.org/I60053951"]}],"countries":["ES"],"is_corresponding":true,"raw_author_name":"Alberto Garcia S.","raw_affiliation_strings":["PROS Research Center, Universitat Polit\u00e8cnica de Val\u00e8ncia, Valencia, Spain"],"affiliations":[{"raw_affiliation_string":"PROS Research Center, Universitat Polit\u00e8cnica de Val\u00e8ncia, Valencia, Spain","institution_ids":["https://openalex.org/I60053951"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5090084456","display_name":"Ana Le\u00f3n Palacio","orcid":"https://orcid.org/0000-0003-3516-8893"},"institutions":[{"id":"https://openalex.org/I60053951","display_name":"Universitat Polit\u00e8cnica de Val\u00e8ncia","ror":"https://ror.org/01460j859","country_code":"ES","type":"education","lineage":["https://openalex.org/I60053951"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Ana Leon Palacio","raw_affiliation_strings":["PROS Research Center, Universitat Polit\u00e8cnica de Val\u00e8ncia, Valencia, Spain"],"affiliations":[{"raw_affiliation_string":"PROS Research Center, Universitat Polit\u00e8cnica de Val\u00e8ncia, Valencia, Spain","institution_ids":["https://openalex.org/I60053951"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5085349293","display_name":"Jos\u00e9 Fabi\u00e1n Reyes Rom\u00e1n","orcid":"https://orcid.org/0000-0002-9598-1301"},"institutions":[{"id":"https://openalex.org/I60053951","display_name":"Universitat Polit\u00e8cnica de Val\u00e8ncia","ror":"https://ror.org/01460j859","country_code":"ES","type":"education","lineage":["https://openalex.org/I60053951"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Jose Fabian Reyes Roman","raw_affiliation_strings":["PROS Research Center, Universitat Polit\u00e8cnica de Val\u00e8ncia, Valencia, Spain"],"affiliations":[{"raw_affiliation_string":"PROS Research Center, Universitat Polit\u00e8cnica de Val\u00e8ncia, Valencia, Spain","institution_ids":["https://openalex.org/I60053951"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5032391889","display_name":"Juan Carlos Casamayor","orcid":"https://orcid.org/0000-0001-5160-9092"},"institutions":[{"id":"https://openalex.org/I60053951","display_name":"Universitat Polit\u00e8cnica de Val\u00e8ncia","ror":"https://ror.org/01460j859","country_code":"ES","type":"education","lineage":["https://openalex.org/I60053951"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Juan Carlos Casamayor","raw_affiliation_strings":["PROS Research Center, Universitat Polit\u00e8cnica de Val\u00e8ncia, Valencia, Spain"],"affiliations":[{"raw_affiliation_string":"PROS Research Center, Universitat Polit\u00e8cnica de Val\u00e8ncia, Valencia, Spain","institution_ids":["https://openalex.org/I60053951"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5028443098","display_name":"\u00d3scar Pastor","orcid":"https://orcid.org/0000-0002-1320-8471"},"institutions":[{"id":"https://openalex.org/I60053951","display_name":"Universitat Polit\u00e8cnica de Val\u00e8ncia","ror":"https://ror.org/01460j859","country_code":"ES","type":"education","lineage":["https://openalex.org/I60053951"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Oscar Pastor","raw_affiliation_strings":["PROS Research Center, Universitat Polit\u00e8cnica de Val\u00e8ncia, Valencia, Spain"],"affiliations":[{"raw_affiliation_string":"PROS Research Center, Universitat Polit\u00e8cnica de Val\u00e8ncia, Valencia, Spain","institution_ids":["https://openalex.org/I60053951"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":5,"corresponding_author_ids":["https://openalex.org/A5008989819"],"corresponding_institution_ids":["https://openalex.org/I60053951"],"apc_list":{"value":1850,"currency":"USD","value_usd":1850},"apc_paid":{"value":1850,"currency":"USD","value_usd":1850},"fwci":1.0031,"has_fulltext":true,"cited_by_count":16,"citation_normalized_percentile":{"value":0.75344162,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":95,"max":98},"biblio":{"volume":"8","issue":null,"first_page":"197111","last_page":"197123"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10015","display_name":"Genomics and Phylogenetic Studies","score":0.9997000098228455,"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/T10015","display_name":"Genomics and Phylogenetic Studies","score":0.9997000098228455,"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/T11710","display_name":"Biomedical Text Mining and Ontologies","score":0.9969000220298767,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10887","display_name":"Bioinformatics and Genomic Networks","score":0.9929999709129333,"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/computer-science","display_name":"Computer science","score":0.7598326206207275},{"id":"https://openalex.org/keywords/data-science","display_name":"Data science","score":0.6360255479812622},{"id":"https://openalex.org/keywords/domain","display_name":"Domain (mathematical analysis)","score":0.5055592060089111},{"id":"https://openalex.org/keywords/conceptual-model","display_name":"Conceptual model","score":0.4839954376220703},{"id":"https://openalex.org/keywords/artifact","display_name":"Artifact (error)","score":0.4777052402496338},{"id":"https://openalex.org/keywords/data-modeling","display_name":"Data modeling","score":0.4489997625350952},{"id":"https://openalex.org/keywords/domain-knowledge","display_name":"Domain knowledge","score":0.42801088094711304},{"id":"https://openalex.org/keywords/task","display_name":"Task (project management)","score":0.4122657775878906},{"id":"https://openalex.org/keywords/artificial-intelligence","display_name":"Artificial intelligence","score":0.2605283558368683},{"id":"https://openalex.org/keywords/software-engineering","display_name":"Software engineering","score":0.12803885340690613}],"concepts":[{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.7598326206207275},{"id":"https://openalex.org/C2522767166","wikidata":"https://www.wikidata.org/wiki/Q2374463","display_name":"Data science","level":1,"score":0.6360255479812622},{"id":"https://openalex.org/C36503486","wikidata":"https://www.wikidata.org/wiki/Q11235244","display_name":"Domain (mathematical analysis)","level":2,"score":0.5055592060089111},{"id":"https://openalex.org/C13606891","wikidata":"https://www.wikidata.org/wiki/Q2623243","display_name":"Conceptual model","level":2,"score":0.4839954376220703},{"id":"https://openalex.org/C2779010991","wikidata":"https://www.wikidata.org/wiki/Q2720909","display_name":"Artifact (error)","level":2,"score":0.4777052402496338},{"id":"https://openalex.org/C67186912","wikidata":"https://www.wikidata.org/wiki/Q367664","display_name":"Data modeling","level":2,"score":0.4489997625350952},{"id":"https://openalex.org/C207685749","wikidata":"https://www.wikidata.org/wiki/Q2088941","display_name":"Domain knowledge","level":2,"score":0.42801088094711304},{"id":"https://openalex.org/C2780451532","wikidata":"https://www.wikidata.org/wiki/Q759676","display_name":"Task (project management)","level":2,"score":0.4122657775878906},{"id":"https://openalex.org/C154945302","wikidata":"https://www.wikidata.org/wiki/Q11660","display_name":"Artificial intelligence","level":1,"score":0.2605283558368683},{"id":"https://openalex.org/C115903868","wikidata":"https://www.wikidata.org/wiki/Q80993","display_name":"Software engineering","level":1,"score":0.12803885340690613},{"id":"https://openalex.org/C134306372","wikidata":"https://www.wikidata.org/wiki/Q7754","display_name":"Mathematical analysis","level":1,"score":0.0},{"id":"https://openalex.org/C33923547","wikidata":"https://www.wikidata.org/wiki/Q395","display_name":"Mathematics","level":0,"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/C187736073","wikidata":"https://www.wikidata.org/wiki/Q2920921","display_name":"Management","level":1,"score":0.0},{"id":"https://openalex.org/C162324750","wikidata":"https://www.wikidata.org/wiki/Q8134","display_name":"Economics","level":0,"score":0.0}],"mesh":[],"locations_count":3,"locations":[{"id":"doi:10.1109/access.2020.3034793","is_oa":true,"landing_page_url":"https://doi.org/10.1109/access.2020.3034793","pdf_url":"https://ieeexplore.ieee.org/ielx7/6287639/8948470/09244049.pdf","source":{"id":"https://openalex.org/S2485537415","display_name":"IEEE Access","issn_l":"2169-3536","issn":["2169-3536"],"is_oa":true,"is_in_doaj":true,"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 Access","raw_type":"journal-article"},{"id":"pmh:oai:doaj.org/article:5308be39f2fc407dbad64a459c2b7d29","is_oa":true,"landing_page_url":"https://doaj.org/article/5308be39f2fc407dbad64a459c2b7d29","pdf_url":null,"source":{"id":"https://openalex.org/S112646816","display_name":"SHILAP Revista de lepidopterolog\u00eda","issn_l":"0300-5267","issn":["0300-5267","2340-4078"],"is_oa":true,"is_in_doaj":true,"is_core":false,"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"IEEE Access, Vol 8, Pp 197111-197123 (2020)","raw_type":"article"},{"id":"pmh:oai:riunet.upv.es:10251/168683","is_oa":true,"landing_page_url":"http://hdl.handle.net/10251/168683","pdf_url":null,"source":{"id":"https://openalex.org/S4306401500","display_name":"RiuNet (Politechnical University of Valencia)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I60053951","host_organization_name":"Universitat Polit\u00e8cnica de Val\u00e8ncia","host_organization_lineage":["https://openalex.org/I60053951"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":{"id":"doi:10.1109/access.2020.3034793","is_oa":true,"landing_page_url":"https://doi.org/10.1109/access.2020.3034793","pdf_url":"https://ieeexplore.ieee.org/ielx7/6287639/8948470/09244049.pdf","source":{"id":"https://openalex.org/S2485537415","display_name":"IEEE Access","issn_l":"2169-3536","issn":["2169-3536"],"is_oa":true,"is_in_doaj":true,"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 Access","raw_type":"journal-article"},"sustainable_development_goals":[],"awards":[{"id":"https://openalex.org/G2593433577","display_name":null,"funder_award_id":"PROMETEO/2018/176","funder_id":"https://openalex.org/F4320335598","funder_display_name":"Agencia Estatal de Investigaci\u00f3n"},{"id":"https://openalex.org/G2631452109","display_name":null,"funder_award_id":"(ERDF)","funder_id":"https://openalex.org/F4320335322","funder_display_name":"European Regional Development Fund"},{"id":"https://openalex.org/G7472594534","display_name":null,"funder_award_id":"PROMETEO/2018/176","funder_id":"https://openalex.org/F4320321864","funder_display_name":"Generalitat Valenciana"},{"id":"https://openalex.org/G8591137259","display_name":null,"funder_award_id":"TIN2016-80811-P","funder_id":"https://openalex.org/F4320335598","funder_display_name":"Agencia Estatal de Investigaci\u00f3n"},{"id":"https://openalex.org/G8637744611","display_name":null,"funder_award_id":"TIN2016-80811-P","funder_id":"https://openalex.org/F4320321864","funder_display_name":"Generalitat Valenciana"}],"funders":[{"id":"https://openalex.org/F4320321864","display_name":"Generalitat Valenciana","ror":"https://ror.org/0097mvx21"},{"id":"https://openalex.org/F4320335322","display_name":"European Regional Development Fund","ror":"https://ror.org/00k4n6c32"},{"id":"https://openalex.org/F4320335598","display_name":"Agencia Estatal de Investigaci\u00f3n","ror":null}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W3095106256.pdf","grobid_xml":"https://content.openalex.org/works/W3095106256.grobid-xml"},"referenced_works_count":38,"referenced_works":["https://openalex.org/W9006164","https://openalex.org/W173449581","https://openalex.org/W174248086","https://openalex.org/W1166575372","https://openalex.org/W1542426682","https://openalex.org/W1545009729","https://openalex.org/W1593309771","https://openalex.org/W1983947465","https://openalex.org/W2045443950","https://openalex.org/W2045729458","https://openalex.org/W2050878024","https://openalex.org/W2051978340","https://openalex.org/W2055214702","https://openalex.org/W2058087601","https://openalex.org/W2088739386","https://openalex.org/W2101790959","https://openalex.org/W2103017472","https://openalex.org/W2104846587","https://openalex.org/W2113142309","https://openalex.org/W2123171788","https://openalex.org/W2124259172","https://openalex.org/W2126209963","https://openalex.org/W2139009061","https://openalex.org/W2148984584","https://openalex.org/W2396849069","https://openalex.org/W2505772950","https://openalex.org/W2528915120","https://openalex.org/W2557399158","https://openalex.org/W2765397040","https://openalex.org/W2769822574","https://openalex.org/W2803687194","https://openalex.org/W2883153113","https://openalex.org/W2893374481","https://openalex.org/W2901332105","https://openalex.org/W2903324676","https://openalex.org/W2999471177","https://openalex.org/W3023992169","https://openalex.org/W6607018753"],"related_works":["https://openalex.org/W1583422155","https://openalex.org/W1649619740","https://openalex.org/W3213252596","https://openalex.org/W1825129916","https://openalex.org/W2165071883","https://openalex.org/W2387641962","https://openalex.org/W4244696999","https://openalex.org/W1550638611","https://openalex.org/W2106107642","https://openalex.org/W2153309500"],"abstract_inverted_index":{"Understanding":[0],"the":[1,38,76,118,144,152,160,167,193,211,230,233,237,252,268],"human":[2,145],"genome":[3,32,122,146],"is":[4,107,186,223,262],"a":[5,29,57,72,86,112,140,172,203,255],"great":[6],"scientific":[7],"challenge,":[8],"whose":[9,221],"achievement":[10],"requires":[11],"effective":[12,189],"data":[13,33,45,62,95,114,120,131,178,184,279],"manipulation":[14],"mechanisms.":[15],"The":[16,259],"non-stop":[17],"evolution":[18],"of":[19,31,40,78,89,93,143,163,176,196,232,236,278],"both":[20],"new":[21,247],"knowledge":[22,222],"and":[23,46,103,125,158,181],"more":[24,188],"efficient":[25],"sequencing":[26],"technologies":[27],"generates":[28],"kind":[30],"chaos.":[34],"This":[35,133],"chaos":[36],"complicates":[37],"use":[39,231],"computational":[41],"resources":[42],"that":[43,80,116,147,214,285],"obtain":[44,85,290],"align":[47],"them":[48],"into":[49,63],"specific":[50],"actions.":[51],"Conceptual":[52],"model-based":[53],"techniques":[54],"should":[55,82],"play":[56],"fundamental":[58],"role":[59,74],"in":[60,75,166,179,240,251,271],"turning":[61],"actionable":[64],"knowledge.":[65],"However,":[66],"current":[67,260],"solutions":[68],"do":[69],"not":[70],"give":[71],"crucial":[73],"task":[77],"modeling":[79],"it":[81],"have":[83,100,111],"to":[84,110,123,138,155,217,245,249,264,281,289],"precise":[87],"understanding":[88],"this":[90],"domain.":[91,169],"Hundreds":[92],"different":[94],"sources":[96],"exist,":[97],"but":[98],"they":[99],"heterogeneous,":[101],"imprecise,":[102],"inconsistent":[104],"data.":[105,198],"It":[106],"remarkably":[108],"hard":[109,288],"unified":[113],"perspective":[115],"covers":[117],"genomic":[119,168],"from":[121],"transcriptome":[124],"proteome,":[126],"which":[127],"could":[128,148],"facilitate":[129],"semantic":[130,183],"integration.":[132],"paper":[134],"focuses":[135],"on":[136,210],"how":[137,182,201,229],"design":[139],"conceptual":[141,174,204,212,238],"model":[142,205,219,239],"be":[149,265,287],"used":[150,165,266],"as":[151,267],"key":[153,269],"artifact":[154,270],"share,":[156],"integrate,":[157],"understand":[159],"various":[161],"types":[162,195],"datasets":[164],"We":[170,199,227],"provide":[171,282],"full":[173],"picture":[175],"relevant":[177],"genomics":[180],"integration":[185],"much":[187],"by":[190],"conceptually":[191,274],"integrating":[192],"diverse":[194],"existing":[197],"show":[200,228],"such":[202],"has":[206,242],"been":[207],"built,":[208],"focusing":[209],"problems":[213],"were":[215],"solved":[216],"adequately":[218],"concepts":[220],"under":[224],"constant":[225],"evolution.":[226],"initial":[234],"versions":[235],"practice":[241],"allowed":[243],"us":[244],"identify":[246],"features":[248],"incorporate":[250],"model,":[253],"achieving":[254],"continuous":[256],"improvement":[257],"process.":[258],"version":[261],"ready":[263],"projects":[272],"where":[273],"combining":[275],"multiple":[276],"levels":[277],"helps":[280],"valuable":[283],"insights":[284],"would":[286],"without":[291],"it.":[292]},"counts_by_year":[{"year":2024,"cited_by_count":4},{"year":2023,"cited_by_count":4},{"year":2022,"cited_by_count":5},{"year":2021,"cited_by_count":3}],"updated_date":"2026-04-11T08:14:18.477133","created_date":"2025-10-10T00:00:00"}