{"id":"https://openalex.org/W4361802129","doi":"https://doi.org/10.1109/access.2023.3262929","title":"Functional Annotation and Analysis of Genetic Variants","display_name":"Functional Annotation and Analysis of Genetic Variants","publication_year":2023,"publication_date":"2023-01-01","ids":{"openalex":"https://openalex.org/W4361802129","doi":"https://doi.org/10.1109/access.2023.3262929"},"language":"en","primary_location":{"id":"doi:10.1109/access.2023.3262929","is_oa":true,"landing_page_url":"http://dx.doi.org/10.1109/access.2023.3262929","pdf_url":"https://ieeexplore.ieee.org/ielx7/6287639/6514899/10086492.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/ielx7/6287639/6514899/10086492.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5088907972","display_name":"Emad Abouel Nasr","orcid":"https://orcid.org/0000-0001-6967-7747"},"institutions":[{"id":"https://openalex.org/I28022161","display_name":"King Saud University","ror":"https://ror.org/02f81g417","country_code":"SA","type":"education","lineage":["https://openalex.org/I28022161"]}],"countries":["SA"],"is_corresponding":false,"raw_author_name":"Emad S. Abouel Nasr","raw_affiliation_strings":["Department of Industrial Engineering, College of Engineering, King Saud University, Riyadh, Saudi Arabia","Department of Industrial Engineering, College of Engineering, King Saud University, P.O. Box 800, Riyadh, Saudi Arabia"],"raw_orcid":"https://orcid.org/0000-0001-6967-7747","affiliations":[{"raw_affiliation_string":"Department of Industrial Engineering, College of Engineering, King Saud University, Riyadh, Saudi Arabia","institution_ids":["https://openalex.org/I28022161"]},{"raw_affiliation_string":"Department of Industrial Engineering, College of Engineering, King Saud University, P.O. Box 800, Riyadh, Saudi Arabia","institution_ids":["https://openalex.org/I28022161"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5075676952","display_name":"H. Al-Mubaid","orcid":"https://orcid.org/0000-0002-7997-7310"},"institutions":[{"id":"https://openalex.org/I52913039","display_name":"University of Houston - Clear Lake","ror":"https://ror.org/01t817z14","country_code":"US","type":"education","lineage":["https://openalex.org/I52913039"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"H. Al-Mubaid","raw_affiliation_strings":["Department of Computer Science, University of Houston---Clear Lake, Houston, TX, USA"],"raw_orcid":"https://orcid.org/0000-0002-7997-7310","affiliations":[{"raw_affiliation_string":"Department of Computer Science, University of Houston---Clear Lake, Houston, TX, USA","institution_ids":["https://openalex.org/I52913039"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":1850,"currency":"USD","value_usd":1850},"apc_paid":{"value":1850,"currency":"USD","value_usd":1850},"fwci":0.287,"has_fulltext":true,"cited_by_count":1,"citation_normalized_percentile":{"value":0.67885285,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":91,"max":95},"biblio":{"volume":"11","issue":null,"first_page":"32659","last_page":"32670"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.9984999895095825,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.9984999895095825,"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/T10015","display_name":"Genomics and Phylogenetic Studies","score":0.9940999746322632,"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/T10521","display_name":"RNA and protein synthesis mechanisms","score":0.9896000027656555,"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":0.704181969165802},{"id":"https://openalex.org/keywords/annotation","display_name":"Annotation","score":0.5031217932701111},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.3854031562805176},{"id":"https://openalex.org/keywords/artificial-intelligence","display_name":"Artificial intelligence","score":0.3535136580467224},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.1929156482219696}],"concepts":[{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.704181969165802},{"id":"https://openalex.org/C2776321320","wikidata":"https://www.wikidata.org/wiki/Q857525","display_name":"Annotation","level":2,"score":0.5031217932701111},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.3854031562805176},{"id":"https://openalex.org/C154945302","wikidata":"https://www.wikidata.org/wiki/Q11660","display_name":"Artificial intelligence","level":1,"score":0.3535136580467224},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.1929156482219696}],"mesh":[],"locations_count":2,"locations":[{"id":"doi:10.1109/access.2023.3262929","is_oa":true,"landing_page_url":"http://dx.doi.org/10.1109/access.2023.3262929","pdf_url":"https://ieeexplore.ieee.org/ielx7/6287639/6514899/10086492.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:4ff02b288e524db8a1eef22dc20ffd23","is_oa":true,"landing_page_url":"https://doaj.org/article/4ff02b288e524db8a1eef22dc20ffd23","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"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":"repository"},"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 11, Pp 32659-32670 (2023)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.1109/access.2023.3262929","is_oa":true,"landing_page_url":"http://dx.doi.org/10.1109/access.2023.3262929","pdf_url":"https://ieeexplore.ieee.org/ielx7/6287639/6514899/10086492.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/G8386910535","display_name":null,"funder_award_id":"RSP2023R164","funder_id":"https://openalex.org/F4320321145","funder_display_name":"King Saud University"}],"funders":[{"id":"https://openalex.org/F4320321145","display_name":"King Saud University","ror":"https://ror.org/02f81g417"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4361802129.pdf","grobid_xml":"https://content.openalex.org/works/W4361802129.grobid-xml"},"referenced_works_count":24,"referenced_works":["https://openalex.org/W1971835681","https://openalex.org/W1984261845","https://openalex.org/W2010595044","https://openalex.org/W2018347065","https://openalex.org/W2035231878","https://openalex.org/W2048658433","https://openalex.org/W2060942759","https://openalex.org/W2101412130","https://openalex.org/W2155518941","https://openalex.org/W2169997311","https://openalex.org/W2174602966","https://openalex.org/W2338565750","https://openalex.org/W2579120355","https://openalex.org/W2593660256","https://openalex.org/W2608690367","https://openalex.org/W2789781012","https://openalex.org/W2792579130","https://openalex.org/W2889045328","https://openalex.org/W2890518679","https://openalex.org/W2891532473","https://openalex.org/W2895009962","https://openalex.org/W2967275775","https://openalex.org/W2968920459","https://openalex.org/W6639112188"],"related_works":["https://openalex.org/W4391375266","https://openalex.org/W2899084033","https://openalex.org/W2748952813","https://openalex.org/W2361861616","https://openalex.org/W2263699433","https://openalex.org/W2377979023","https://openalex.org/W2218034408","https://openalex.org/W2392921965","https://openalex.org/W2358755282","https://openalex.org/W2625833328"],"abstract_inverted_index":{"The":[0,97,233],"process":[1,76,213,231,254],"of":[2,5,59,70,87,111,127,132,160,175,187,220,228,269],"functional":[3,18,57],"annotation":[4,58],"human":[6,63],"genetic":[7,24,60,161],"variants":[8,25,61,112,149,162],"is":[9,122,224],"important":[10,169,237],"for":[11,56,107,145,217],"some":[12],"significant":[13,103,140],"biomedical":[14],"tasks":[15],"like":[16,257],"understanding":[17,268,275],"genomics":[19],"and":[20,47,82,104,136,171,185,238,274],"gene-disease":[21],"associations.":[22],"Moreover,":[23],"that":[26,195,240],"lead":[27,37],"to":[28,38,134,142,202],"pathogenic":[29],"mutations":[30,203],"can":[31,167,243],"have":[32],"harmful":[33],"consequences":[34],"which":[35],"may":[36,262],"certain":[39,196,205],"medical":[40],"conditions":[41],"or":[42],"diseases.":[43],"This":[44,120,260],"paper":[45],"investigates":[46],"presents":[48],"two":[49],"methodologies":[50],"utilizing":[51],"the":[52,68,74,79,85,93,101,125,128,138,148,154,183,188,249,258],"Gene":[53],"Ontology":[54],"(GO)":[55],"(and":[62],"gene":[64,80,94,250],"mutations):":[65],"(1)":[66],"using":[67,84],"concept":[69,86],"term":[71],"enrichment":[72],"from":[73,248],"biological":[75,253],"taxonomy":[77],"in":[78,215],"ontology,":[81,251],"(2)":[83],"least":[88],"common":[89,115],"subsumer":[90],"(LCS)":[91],"within":[92],"ontology":[95,197],"tree.":[96],"second":[98],"methodology":[99],"induces":[100],"most":[102,139],"accurate":[105],"functions":[106,170,211,223,247],"a":[108,157,241,265],"given":[109],"set":[110],"having":[113],"one":[114,219],"aspect,":[116,255],"e.g.":[117,252],"specific":[118],"disease.":[119],"method":[121,166,189],"based":[123],"on":[124,156],"structure":[126],"directed":[129],"acyclic":[130],"graph":[131],"GO":[133],"induce":[135],"identify":[137],"LCS\u2019s":[141],"be":[143,244],"used":[144],"functionally":[146],"annotating":[147],"under":[150],"investigation.":[151],"We":[152,193],"applied":[153],"methods":[155],"large":[158],"sets":[159],"causing":[163],"mutations.":[164],"Our":[165],"determine":[168],"with":[172,208,246],"significance":[173],"level":[174],"<inline-formula":[176],"xmlns:mml=\"http://www.w3.org/1998/Math/MathML\"":[177],"xmlns:xlink=\"http://www.w3.org/1999/xlink\">":[178],"<tex-math":[179],"notation=\"LaTeX\">$\\text{p}&lt;":[180],"0.02$":[181],"</tex-math></inline-formula>,":[182],"outcomes":[184],"results":[186,234],"are":[190,199,235],"biologically":[191],"significant.":[192],"found":[194],"annotations":[198],"more":[200,266],"related":[201],"through":[204],"genes":[206],"compared":[207],"normal":[209],"bp":[210,222],"(biological":[212],"terms)":[214],"GO;":[216],"example,":[218],"these":[221],"{GO:0031325;":[225],"positive":[226],"regulation":[227],"cellular":[229],"metabolic":[230],"}.":[232],"basically":[236],"suggest":[239],"mutation":[242,272],"annotated":[245],"just":[256],"genes.":[259],"outcome":[261],"contribute":[263],"into":[264],"complete":[267],"mutation-gene-disease":[270],"relationships,":[271],"pathogenicity,":[273],"disease":[276],"mechanisms.":[277]},"counts_by_year":[{"year":2025,"cited_by_count":1}],"updated_date":"2026-06-11T09:08:48.828518","created_date":"2025-10-10T00:00:00"}
