{"id":"https://openalex.org/W4361278620","doi":"https://doi.org/10.1093/bib/bbad106","title":"Computational approaches for detecting disease-associated alternative splicing events","display_name":"Computational approaches for detecting disease-associated alternative splicing events","publication_year":2023,"publication_date":"2023-03-28","ids":{"openalex":"https://openalex.org/W4361278620","doi":"https://doi.org/10.1093/bib/bbad106","pmid":"https://pubmed.ncbi.nlm.nih.gov/36987778"},"language":"en","primary_location":{"id":"doi:10.1093/bib/bbad106","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bib/bbad106","pdf_url":"https://academic.oup.com/bib/article-pdf/24/3/bbad106/50410887/bbad106.pdf","source":{"id":"https://openalex.org/S91767247","display_name":"Briefings in Bioinformatics","issn_l":"1467-5463","issn":["1467-5463","1477-4054"],"is_oa":false,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Briefings in Bioinformatics","raw_type":"journal-article"},"type":"review","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://academic.oup.com/bib/article-pdf/24/3/bbad106/50410887/bbad106.pdf","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5101686413","display_name":"Jiashu Liu","orcid":"https://orcid.org/0000-0003-0504-921X"},"institutions":[{"id":"https://openalex.org/I139660479","display_name":"Central South University","ror":"https://ror.org/00f1zfq44","country_code":"CN","type":"education","lineage":["https://openalex.org/I139660479"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Jiashu Liu","raw_affiliation_strings":["School of Computer Science and Engineering, Hunan Provincial Key Lab on Bioinformatics, Central South University , Changsha, Hunan 410083 , P.R. China"],"affiliations":[{"raw_affiliation_string":"School of Computer Science and Engineering, Hunan Provincial Key Lab on Bioinformatics, Central South University , Changsha, Hunan 410083 , P.R. China","institution_ids":["https://openalex.org/I139660479"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5054012280","display_name":"Cuixiang Lin","orcid":null},"institutions":[{"id":"https://openalex.org/I139660479","display_name":"Central South University","ror":"https://ror.org/00f1zfq44","country_code":"CN","type":"education","lineage":["https://openalex.org/I139660479"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Cui-Xiang Lin","raw_affiliation_strings":["School of Computer Science and Engineering, Hunan Provincial Key Lab on Bioinformatics, Central South University , Changsha, Hunan 410083 , P.R. China"],"affiliations":[{"raw_affiliation_string":"School of Computer Science and Engineering, Hunan Provincial Key Lab on Bioinformatics, Central South University , Changsha, Hunan 410083 , P.R. China","institution_ids":["https://openalex.org/I139660479"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100755614","display_name":"Xiaoqi Zhang","orcid":"https://orcid.org/0000-0003-0707-0928"},"institutions":[{"id":"https://openalex.org/I139660479","display_name":"Central South University","ror":"https://ror.org/00f1zfq44","country_code":"CN","type":"education","lineage":["https://openalex.org/I139660479"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Xiaoqi Zhang","raw_affiliation_strings":["School of Computer Science and Engineering, Hunan Provincial Key Lab on Bioinformatics, Central South University , Changsha, Hunan 410083 , P.R. China"],"affiliations":[{"raw_affiliation_string":"School of Computer Science and Engineering, Hunan Provincial Key Lab on Bioinformatics, Central South University , Changsha, Hunan 410083 , P.R. China","institution_ids":["https://openalex.org/I139660479"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5072234406","display_name":"Zongxuan Li","orcid":"https://orcid.org/0000-0001-5239-6789"},"institutions":[{"id":"https://openalex.org/I139660479","display_name":"Central South University","ror":"https://ror.org/00f1zfq44","country_code":"CN","type":"education","lineage":["https://openalex.org/I139660479"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Zongxuan Li","raw_affiliation_strings":["School of Computer Science and Engineering, Hunan Provincial Key Lab on Bioinformatics, Central South University , Changsha, Hunan 410083 , P.R. China"],"affiliations":[{"raw_affiliation_string":"School of Computer Science and Engineering, Hunan Provincial Key Lab on Bioinformatics, Central South University , Changsha, Hunan 410083 , P.R. China","institution_ids":["https://openalex.org/I139660479"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110609940","display_name":"Wenkui Huang","orcid":null},"institutions":[{"id":"https://openalex.org/I139660479","display_name":"Central South University","ror":"https://ror.org/00f1zfq44","country_code":"CN","type":"education","lineage":["https://openalex.org/I139660479"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Wenkui Huang","raw_affiliation_strings":["School of Computer Science and Engineering, Hunan Provincial Key Lab on Bioinformatics, Central South University , Changsha, Hunan 410083 , P.R. China"],"affiliations":[{"raw_affiliation_string":"School of Computer Science and Engineering, Hunan Provincial Key Lab on Bioinformatics, Central South University , Changsha, Hunan 410083 , P.R. China","institution_ids":["https://openalex.org/I139660479"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100642610","display_name":"Jin Liu","orcid":"https://orcid.org/0000-0002-4961-7074"},"institutions":[{"id":"https://openalex.org/I139660479","display_name":"Central South University","ror":"https://ror.org/00f1zfq44","country_code":"CN","type":"education","lineage":["https://openalex.org/I139660479"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Jin Liu","raw_affiliation_strings":["School of Computer Science and Engineering, Hunan Provincial Key Lab on Bioinformatics, Central South University , Changsha, Hunan 410083 , P.R. China"],"affiliations":[{"raw_affiliation_string":"School of Computer Science and Engineering, Hunan Provincial Key Lab on Bioinformatics, Central South University , Changsha, Hunan 410083 , P.R. China","institution_ids":["https://openalex.org/I139660479"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5011032655","display_name":"Yuanfang Guan","orcid":"https://orcid.org/0000-0001-8275-2852"},"institutions":[{"id":"https://openalex.org/I27837315","display_name":"University of Michigan","ror":"https://ror.org/00jmfr291","country_code":"US","type":"education","lineage":["https://openalex.org/I27837315"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Yuanfang Guan","raw_affiliation_strings":["Department of Computational Medicine and Bioinformatics, University of Michigan , Ann Arbor, MI 48109 , USA"],"affiliations":[{"raw_affiliation_string":"Department of Computational Medicine and Bioinformatics, University of Michigan , Ann Arbor, MI 48109 , USA","institution_ids":["https://openalex.org/I27837315"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5101819060","display_name":"Hong\u2010Dong Li","orcid":null},"institutions":[{"id":"https://openalex.org/I139660479","display_name":"Central South University","ror":"https://ror.org/00f1zfq44","country_code":"CN","type":"education","lineage":["https://openalex.org/I139660479"]}],"countries":["CN"],"is_corresponding":true,"raw_author_name":"Hong-Dong Li","raw_affiliation_strings":["School of Computer Science and Engineering, Hunan Provincial Key Lab on Bioinformatics, Central South University , Changsha, Hunan 410083 , P.R. China"],"affiliations":[{"raw_affiliation_string":"School of Computer Science and Engineering, Hunan Provincial Key Lab on Bioinformatics, Central South University , Changsha, Hunan 410083 , P.R. China","institution_ids":["https://openalex.org/I139660479"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":8,"corresponding_author_ids":["https://openalex.org/A5101819060"],"corresponding_institution_ids":["https://openalex.org/I139660479"],"apc_list":{"value":4011,"currency":"USD","value_usd":4011},"apc_paid":null,"fwci":1.2315,"has_fulltext":true,"cited_by_count":8,"citation_normalized_percentile":{"value":0.78903105,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":90,"max":99},"biblio":{"volume":"24","issue":"3","first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10604","display_name":"RNA Research and Splicing","score":1.0,"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/T10604","display_name":"RNA Research and Splicing","score":1.0,"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":0.9998999834060669,"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/T11482","display_name":"RNA modifications and cancer","score":0.9994999766349792,"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/rna-splicing","display_name":"RNA splicing","score":0.6126994490623474},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.5831901431083679},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.5703831911087036},{"id":"https://openalex.org/keywords/alternative-splicing","display_name":"Alternative splicing","score":0.4189910292625427},{"id":"https://openalex.org/keywords/disease","display_name":"Disease","score":0.4126431941986084},{"id":"https://openalex.org/keywords/artificial-intelligence","display_name":"Artificial intelligence","score":0.3374482989311218},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.24006924033164978},{"id":"https://openalex.org/keywords/medicine","display_name":"Medicine","score":0.2232065200805664},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.1889771819114685},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.12639400362968445},{"id":"https://openalex.org/keywords/rna","display_name":"RNA","score":0.05946052074432373},{"id":"https://openalex.org/keywords/pathology","display_name":"Pathology","score":0.05916798114776611}],"concepts":[{"id":"https://openalex.org/C54458228","wikidata":"https://www.wikidata.org/wiki/Q237218","display_name":"RNA splicing","level":4,"score":0.6126994490623474},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.5831901431083679},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.5703831911087036},{"id":"https://openalex.org/C194583182","wikidata":"https://www.wikidata.org/wiki/Q21114084","display_name":"Alternative splicing","level":4,"score":0.4189910292625427},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.4126431941986084},{"id":"https://openalex.org/C154945302","wikidata":"https://www.wikidata.org/wiki/Q11660","display_name":"Artificial intelligence","level":1,"score":0.3374482989311218},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.24006924033164978},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.2232065200805664},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.1889771819114685},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.12639400362968445},{"id":"https://openalex.org/C67705224","wikidata":"https://www.wikidata.org/wiki/Q11053","display_name":"RNA","level":3,"score":0.05946052074432373},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.05916798114776611},{"id":"https://openalex.org/C105580179","wikidata":"https://www.wikidata.org/wiki/Q188928","display_name":"Messenger RNA","level":3,"score":0.0}],"mesh":[{"descriptor_ui":"D017398","descriptor_name":"Alternative Splicing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D017398","descriptor_name":"Alternative Splicing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D017398","descriptor_name":"Alternative Splicing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D019295","descriptor_name":"Computational Biology","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D019295","descriptor_name":"Computational Biology","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D019295","descriptor_name":"Computational Biology","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1093/bib/bbad106","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bib/bbad106","pdf_url":"https://academic.oup.com/bib/article-pdf/24/3/bbad106/50410887/bbad106.pdf","source":{"id":"https://openalex.org/S91767247","display_name":"Briefings in Bioinformatics","issn_l":"1467-5463","issn":["1467-5463","1477-4054"],"is_oa":false,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Briefings in Bioinformatics","raw_type":"journal-article"},{"id":"pmid:36987778","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/36987778","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":"Briefings in bioinformatics","raw_type":null}],"best_oa_location":{"id":"doi:10.1093/bib/bbad106","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bib/bbad106","pdf_url":"https://academic.oup.com/bib/article-pdf/24/3/bbad106/50410887/bbad106.pdf","source":{"id":"https://openalex.org/S91767247","display_name":"Briefings in Bioinformatics","issn_l":"1467-5463","issn":["1467-5463","1477-4054"],"is_oa":false,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Briefings in Bioinformatics","raw_type":"journal-article"},"sustainable_development_goals":[],"awards":[],"funders":[{"id":"https://openalex.org/F4320321514","display_name":"Central South University","ror":"https://ror.org/00f1zfq44"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4361278620.pdf","grobid_xml":"https://content.openalex.org/works/W4361278620.grobid-xml"},"referenced_works_count":57,"referenced_works":["https://openalex.org/W1846422913","https://openalex.org/W1963905877","https://openalex.org/W1968569455","https://openalex.org/W1983924599","https://openalex.org/W2001952613","https://openalex.org/W2011920499","https://openalex.org/W2013748289","https://openalex.org/W2034691490","https://openalex.org/W2035954301","https://openalex.org/W2046583421","https://openalex.org/W2056308865","https://openalex.org/W2066231767","https://openalex.org/W2073954801","https://openalex.org/W2093131463","https://openalex.org/W2095998476","https://openalex.org/W2100305481","https://openalex.org/W2103534177","https://openalex.org/W2110265351","https://openalex.org/W2114104545","https://openalex.org/W2118874738","https://openalex.org/W2139199979","https://openalex.org/W2151462466","https://openalex.org/W2152559563","https://openalex.org/W2155486554","https://openalex.org/W2156410844","https://openalex.org/W2159730169","https://openalex.org/W2164185703","https://openalex.org/W2165607262","https://openalex.org/W2166820820","https://openalex.org/W2174355534","https://openalex.org/W2255131131","https://openalex.org/W2259938310","https://openalex.org/W2336341683","https://openalex.org/W2344561059","https://openalex.org/W2543715517","https://openalex.org/W2602408874","https://openalex.org/W2733002388","https://openalex.org/W2774883395","https://openalex.org/W2883803503","https://openalex.org/W2891885918","https://openalex.org/W2909194804","https://openalex.org/W2918497364","https://openalex.org/W2924070408","https://openalex.org/W2951364430","https://openalex.org/W3005435954","https://openalex.org/W3007694665","https://openalex.org/W3017021858","https://openalex.org/W3031257532","https://openalex.org/W3085774086","https://openalex.org/W3124012596","https://openalex.org/W3125383934","https://openalex.org/W3128957759","https://openalex.org/W3164944277","https://openalex.org/W3181822107","https://openalex.org/W4281760955","https://openalex.org/W4293537701","https://openalex.org/W6685310792"],"related_works":["https://openalex.org/W2321791250","https://openalex.org/W4213427798","https://openalex.org/W2023199111","https://openalex.org/W2564462691","https://openalex.org/W2065030615","https://openalex.org/W2885403345","https://openalex.org/W2052498125","https://openalex.org/W4387768639","https://openalex.org/W2094867951","https://openalex.org/W1535548930"],"abstract_inverted_index":{"Alternative":[0],"splicing":[1,65,70,73],"(AS)":[2],"is":[3],"a":[4,137],"key":[5],"transcriptional":[6],"regulation":[7],"pathway.":[8],"Recent":[9],"studies":[10],"have":[11,27],"shown":[12],"that":[13,98,133],"AS":[14,35,50,88],"events":[15],"are":[16,68],"associated":[17],"with":[18],"the":[19,31,43,57,83,92,118,144],"occurrence":[20],"of":[21,33,49,60,86,105,120,140,146],"complex":[22],"diseases.":[23],"Various":[24],"computational":[25,141],"approaches":[26,142],"been":[28],"developed":[29],"for":[30,46,62,94,143],"detection":[32,74],"disease-associated":[34,64,87,147],"events.":[36,51],"In":[37],"this":[38,134],"review,":[39],"we":[40,53,90,107,116],"first":[41],"describe":[42,91],"metrics":[44],"used":[45],"quantitative":[47],"characterization":[48],"Second,":[52],"review":[54,135],"and":[55,75,123],"discuss":[56,117],"three":[58],"types":[59],"methods":[61,93,122],"detecting":[63,95],"events,":[66,89],"which":[67],"differential":[69],"analysis,":[71],"aberrant":[72],"splicing-related":[76],"network":[77],"analysis.":[78],"Third,":[79],"to":[80,111,128],"further":[81],"exploit":[82],"genetic":[84,96],"mechanism":[85],"variants":[97],"potentially":[99],"regulate":[100],"splicing.":[101,148],"For":[102],"each":[103],"type":[104],"methods,":[106],"conducted":[108],"experimental":[109],"comparison":[110],"illustrate":[112],"their":[113],"performance.":[114],"Finally,":[115],"limitations":[119],"these":[121],"point":[124],"out":[125],"potential":[126],"ways":[127],"address":[129],"them.":[130],"We":[131],"anticipate":[132],"provides":[136],"systematic":[138],"understanding":[139],"analysis":[145]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":3},{"year":2024,"cited_by_count":3},{"year":2023,"cited_by_count":1}],"updated_date":"2026-03-27T05:58:40.876381","created_date":"2025-10-10T00:00:00"}