{"id":"https://openalex.org/W4390971071","doi":"https://doi.org/10.1109/bibm58861.2023.10385902","title":"Identification of risk genes and biological pathways influencing myopia via transcriptome association study and biomedical ontology methods","display_name":"Identification of risk genes and biological pathways influencing myopia via transcriptome association study and biomedical ontology methods","publication_year":2023,"publication_date":"2023-12-05","ids":{"openalex":"https://openalex.org/W4390971071","doi":"https://doi.org/10.1109/bibm58861.2023.10385902"},"language":"en","primary_location":{"id":"doi:10.1109/bibm58861.2023.10385902","is_oa":false,"landing_page_url":"https://doi.org/10.1109/bibm58861.2023.10385902","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"2023 IEEE International Conference on Bioinformatics and Biomedicine (BIBM)","raw_type":"proceedings-article"},"type":"article","indexed_in":["crossref"],"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/A5054449587","display_name":"Shizheng Qiu","orcid":"https://orcid.org/0000-0002-0047-4199"},"institutions":[{"id":"https://openalex.org/I204983213","display_name":"Harbin Institute of Technology","ror":"https://ror.org/01yqg2h08","country_code":"CN","type":"education","lineage":["https://openalex.org/I204983213"]}],"countries":["CN"],"is_corresponding":true,"raw_author_name":"Shizheng Qiu","raw_affiliation_strings":["Harbin Institute of Technology,School of Computer Science and Technology,Harbin,China","School of Computer Science and Technology, Harbin Institute of Technology, Harbin, China"],"affiliations":[{"raw_affiliation_string":"Harbin Institute of Technology,School of Computer Science and Technology,Harbin,China","institution_ids":["https://openalex.org/I204983213"]},{"raw_affiliation_string":"School of Computer Science and Technology, Harbin Institute of Technology, Harbin, China","institution_ids":["https://openalex.org/I204983213"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100386229","display_name":"Ying Zhang","orcid":"https://orcid.org/0000-0003-2194-7116"},"institutions":[{"id":"https://openalex.org/I204983213","display_name":"Harbin Institute of Technology","ror":"https://ror.org/01yqg2h08","country_code":"CN","type":"education","lineage":["https://openalex.org/I204983213"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Ying Zhang","raw_affiliation_strings":["Harbin Institute of Technology,School of Computer Science and Technology,Harbin,China","School of Computer Science and Technology, Harbin Institute of Technology, Harbin, China"],"affiliations":[{"raw_affiliation_string":"Harbin Institute of Technology,School of Computer Science and Technology,Harbin,China","institution_ids":["https://openalex.org/I204983213"]},{"raw_affiliation_string":"School of Computer Science and Technology, Harbin Institute of Technology, Harbin, China","institution_ids":["https://openalex.org/I204983213"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5059343235","display_name":"Yang Hu","orcid":"https://orcid.org/0000-0003-2388-7719"},"institutions":[{"id":"https://openalex.org/I204983213","display_name":"Harbin Institute of Technology","ror":"https://ror.org/01yqg2h08","country_code":"CN","type":"education","lineage":["https://openalex.org/I204983213"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Yang Hu","raw_affiliation_strings":["Harbin Institute of Technology,School of Computer Science and Technology,Harbin,China","School of Computer Science and Technology, Harbin Institute of Technology, Harbin, China"],"affiliations":[{"raw_affiliation_string":"Harbin Institute of Technology,School of Computer Science and Technology,Harbin,China","institution_ids":["https://openalex.org/I204983213"]},{"raw_affiliation_string":"School of Computer Science and Technology, Harbin Institute of Technology, Harbin, China","institution_ids":["https://openalex.org/I204983213"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5100392447","display_name":"Yadong Wang","orcid":"https://orcid.org/0000-0001-6500-6217"},"institutions":[{"id":"https://openalex.org/I4210143120","display_name":"Shenyang 242 Hospital","ror":"https://ror.org/03wm27n21","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210143120"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Yadong Wang","raw_affiliation_strings":["General Hospital,Beidahuang Industry Group,Harbin,China","Beidahuang Industry Group, General Hospital, Harbin, China"],"affiliations":[{"raw_affiliation_string":"General Hospital,Beidahuang Industry Group,Harbin,China","institution_ids":["https://openalex.org/I4210143120"]},{"raw_affiliation_string":"Beidahuang Industry Group, General Hospital, Harbin, China","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5054449587"],"corresponding_institution_ids":["https://openalex.org/I204983213"],"apc_list":null,"apc_paid":null,"fwci":0.2867,"has_fulltext":false,"cited_by_count":1,"citation_normalized_percentile":{"value":0.61358706,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":91,"max":95},"biblio":{"volume":null,"issue":null,"first_page":"2926","last_page":"2931"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10170","display_name":"Retinal Diseases and Treatments","score":0.9993000030517578,"subfield":{"id":"https://openalex.org/subfields/2731","display_name":"Ophthalmology"},"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/T10170","display_name":"Retinal Diseases and Treatments","score":0.9993000030517578,"subfield":{"id":"https://openalex.org/subfields/2731","display_name":"Ophthalmology"},"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/T10381","display_name":"Ophthalmology and Visual Impairment Studies","score":0.9991000294685364,"subfield":{"id":"https://openalex.org/subfields/2713","display_name":"Epidemiology"},"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/T10250","display_name":"Glaucoma and retinal disorders","score":0.9948999881744385,"subfield":{"id":"https://openalex.org/subfields/2731","display_name":"Ophthalmology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.6245672702789307},{"id":"https://openalex.org/keywords/genome-wide-association-study","display_name":"Genome-wide association study","score":0.5354371666908264},{"id":"https://openalex.org/keywords/transcriptome","display_name":"Transcriptome","score":0.5318887829780579},{"id":"https://openalex.org/keywords/alternative-splicing","display_name":"Alternative splicing","score":0.5271365642547607},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.5107560157775879},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.47777092456817627},{"id":"https://openalex.org/keywords/refractive-error","display_name":"Refractive error","score":0.4766474664211273},{"id":"https://openalex.org/keywords/candidate-gene","display_name":"Candidate gene","score":0.473217636346817},{"id":"https://openalex.org/keywords/rna-splicing","display_name":"RNA splicing","score":0.4510759711265564},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.4106369614601135},{"id":"https://openalex.org/keywords/exon","display_name":"Exon","score":0.39556390047073364},{"id":"https://openalex.org/keywords/bioinformatics","display_name":"Bioinformatics","score":0.3517093360424042},{"id":"https://openalex.org/keywords/rna","display_name":"RNA","score":0.29606640338897705},{"id":"https://openalex.org/keywords/gene-expression","display_name":"Gene expression","score":0.24622631072998047},{"id":"https://openalex.org/keywords/single-nucleotide-polymorphism","display_name":"Single-nucleotide polymorphism","score":0.20719248056411743},{"id":"https://openalex.org/keywords/genotype","display_name":"Genotype","score":0.0869424045085907}],"concepts":[{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.6245672702789307},{"id":"https://openalex.org/C106208931","wikidata":"https://www.wikidata.org/wiki/Q1098876","display_name":"Genome-wide association study","level":5,"score":0.5354371666908264},{"id":"https://openalex.org/C162317418","wikidata":"https://www.wikidata.org/wiki/Q252857","display_name":"Transcriptome","level":4,"score":0.5318887829780579},{"id":"https://openalex.org/C194583182","wikidata":"https://www.wikidata.org/wiki/Q21114084","display_name":"Alternative splicing","level":4,"score":0.5271365642547607},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.5107560157775879},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.47777092456817627},{"id":"https://openalex.org/C2781135284","wikidata":"https://www.wikidata.org/wiki/Q470427","display_name":"Refractive error","level":3,"score":0.4766474664211273},{"id":"https://openalex.org/C69991583","wikidata":"https://www.wikidata.org/wiki/Q1423575","display_name":"Candidate gene","level":3,"score":0.473217636346817},{"id":"https://openalex.org/C54458228","wikidata":"https://www.wikidata.org/wiki/Q237218","display_name":"RNA splicing","level":4,"score":0.4510759711265564},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4106369614601135},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.39556390047073364},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.3517093360424042},{"id":"https://openalex.org/C67705224","wikidata":"https://www.wikidata.org/wiki/Q11053","display_name":"RNA","level":3,"score":0.29606640338897705},{"id":"https://openalex.org/C150194340","wikidata":"https://www.wikidata.org/wiki/Q26972","display_name":"Gene expression","level":3,"score":0.24622631072998047},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.20719248056411743},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.0869424045085907},{"id":"https://openalex.org/C2776148792","wikidata":"https://www.wikidata.org/wiki/Q3041498","display_name":"Eye disease","level":2,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1109/bibm58861.2023.10385902","is_oa":false,"landing_page_url":"https://doi.org/10.1109/bibm58861.2023.10385902","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"2023 IEEE International Conference on Bioinformatics and Biomedicine (BIBM)","raw_type":"proceedings-article"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.4399999976158142,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":47,"referenced_works":["https://openalex.org/W1996121046","https://openalex.org/W2019735351","https://openalex.org/W2034142529","https://openalex.org/W2051314902","https://openalex.org/W2058148991","https://openalex.org/W2066327061","https://openalex.org/W2073836327","https://openalex.org/W2076585881","https://openalex.org/W2103017472","https://openalex.org/W2125538232","https://openalex.org/W2141621241","https://openalex.org/W2144961623","https://openalex.org/W2148593676","https://openalex.org/W2148860875","https://openalex.org/W2167638767","https://openalex.org/W2264585211","https://openalex.org/W2274805013","https://openalex.org/W2293040502","https://openalex.org/W2316348164","https://openalex.org/W2328393125","https://openalex.org/W2346626662","https://openalex.org/W2487930918","https://openalex.org/W2526546796","https://openalex.org/W2565445720","https://openalex.org/W2586609854","https://openalex.org/W2599123623","https://openalex.org/W2611696724","https://openalex.org/W2746163443","https://openalex.org/W2770092353","https://openalex.org/W2804163548","https://openalex.org/W2804575948","https://openalex.org/W2900569176","https://openalex.org/W2934861239","https://openalex.org/W2938099814","https://openalex.org/W2962979703","https://openalex.org/W2969505671","https://openalex.org/W2982405120","https://openalex.org/W2996744788","https://openalex.org/W3016489931","https://openalex.org/W3043870140","https://openalex.org/W3090507225","https://openalex.org/W3115479641","https://openalex.org/W3128690417","https://openalex.org/W3164254084","https://openalex.org/W4205884063","https://openalex.org/W4283831663","https://openalex.org/W6694364201"],"related_works":["https://openalex.org/W1968943444","https://openalex.org/W2321791250","https://openalex.org/W4213427798","https://openalex.org/W2564462691","https://openalex.org/W2023199111","https://openalex.org/W2065030615","https://openalex.org/W2885403345","https://openalex.org/W2052498125","https://openalex.org/W2094867951","https://openalex.org/W1535548930"],"abstract_inverted_index":{"Refractive":[0],"error":[1,59,69,87,115,138,189],"remains":[2,62],"one":[3],"of":[4,53,157,209],"the":[5,11,36,51,117,122],"most":[6],"common":[7],"eye":[8],"diseases":[9],"in":[10,44,60,106,160,192],"world,":[12],"which":[13],"causes":[14],"great":[15],"burden":[16],"on":[17,57],"public":[18],"health":[19],"and":[20,72,99,121,142,170,173,199,213],"economy":[21],"every":[22],"year.":[23],"Although":[24],"genome-wide":[25],"association":[26,82,96,153],"studies":[27,97],"(GWAS)":[28],"have":[29],"identified":[30,66,103,147],"susceptibility":[31],"loci":[32],"for":[33,187,216],"refractive":[34,58,68,86,114,137,183,188,217],"error,":[35],"credible":[37],"causal":[38,166],"genes":[39,105,150,159,167,186],"associated":[40],"with":[41],"gene":[42,70,119],"expression":[43],"brain":[45,61,107,161],"are":[46],"still":[47],"unclear.":[48],"In":[49,75,90,129,201],"addition,":[50],"influence":[52],"RNA":[54,126,178],"splicing":[55],"events":[56],"unknown.":[63],"Here,":[64],"we":[65,78,102,132],"candidate":[67],"targets":[71,212],"biological":[73,134,140,193,214],"pathways.":[74],"stage":[76,91,130],"1,":[77],"carried":[79],"out":[80],"gene-based":[81,152],"analysis":[83,204],"to":[84,113,196],"identify":[85],"risk":[88,149],"genes.":[89],"2,":[92],"by":[93],"using":[94,139,168],"transcriptome-wide":[95],"(TWAS)":[98],"colocalization":[100,171],"analysis,":[101,172],"cis-regulated":[104],"tissues":[108],"that":[109],"were":[110,175],"positively":[111],"related":[112,195],"from":[116],"whole":[118],"region":[120,124],"exon":[123],"after":[125],"splicing,":[127,179],"respectively.":[128],"3,":[131],"reveal":[133],"pathways":[135,215],"influencing":[136],"ontology":[141],"knowledge":[143],"base":[144],"methods.":[145],"We":[146],"367":[148],"passed":[151],"test.":[154],"A":[155],"total":[156],"43":[158],"could":[162],"be":[163],"considered":[164],"as":[165],"TWAS":[169],"27":[174],"novel.":[176],"After":[177],"RCBTB1":[180],"significantly":[181,190],"affected":[182],"error.":[184,218],"Risk":[185],"enriched":[191],"processes":[194],"synaptic":[197],"transmission":[198],"acetylcholine.":[200],"conclusion,":[202],"our":[203],"provides":[205],"a":[206],"better":[207],"understanding":[208],"potential":[210],"therapeutic":[211]},"counts_by_year":[{"year":2025,"cited_by_count":1}],"updated_date":"2025-11-06T03:46:38.306776","created_date":"2025-10-10T00:00:00"}