{"id":"https://openalex.org/W2086425289","doi":"https://doi.org/10.1109/bibm.2013.6732719","title":"Pathway based identification of rare mutation effect in cancer","display_name":"Pathway based identification of rare mutation effect in cancer","publication_year":2013,"publication_date":"2013-12-01","ids":{"openalex":"https://openalex.org/W2086425289","doi":"https://doi.org/10.1109/bibm.2013.6732719","mag":"2086425289"},"language":"en","primary_location":{"id":"doi:10.1109/bibm.2013.6732719","is_oa":false,"landing_page_url":"https://doi.org/10.1109/bibm.2013.6732719","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"2013 IEEE International Conference on Bioinformatics and Biomedicine","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/A5009861775","display_name":"TaeJin Ahn","orcid":"https://orcid.org/0000-0001-5165-2744"},"institutions":[{"id":"https://openalex.org/I139264467","display_name":"Seoul National University","ror":"https://ror.org/04h9pn542","country_code":"KR","type":"education","lineage":["https://openalex.org/I139264467"]}],"countries":["KR"],"is_corresponding":true,"raw_author_name":"TaeJin Ahn","raw_affiliation_strings":["Interdisciplinary Program in Bioinformatics, Seoul National University, Seoul, Republic of Korea","Interdiscipl. Program in Bioinf., Seoul Nat. Univ., Seoul, South Korea"],"affiliations":[{"raw_affiliation_string":"Interdisciplinary Program in Bioinformatics, Seoul National University, Seoul, Republic of Korea","institution_ids":["https://openalex.org/I139264467"]},{"raw_affiliation_string":"Interdiscipl. Program in Bioinf., Seoul Nat. Univ., Seoul, South Korea","institution_ids":["https://openalex.org/I139264467"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5100643662","display_name":"Taesung Park","orcid":"https://orcid.org/0000-0002-8294-590X"},"institutions":[{"id":"https://openalex.org/I139264467","display_name":"Seoul National University","ror":"https://ror.org/04h9pn542","country_code":"KR","type":"education","lineage":["https://openalex.org/I139264467"]}],"countries":["KR"],"is_corresponding":false,"raw_author_name":"Taesung Park","raw_affiliation_strings":["Department of statistics, Seoul National University, Seoul, Republic of Korea","Dept. of Stat., Seoul Nat. Univ., Seoul, South Korea"],"affiliations":[{"raw_affiliation_string":"Department of statistics, Seoul National University, Seoul, Republic of Korea","institution_ids":["https://openalex.org/I139264467"]},{"raw_affiliation_string":"Dept. of Stat., Seoul Nat. Univ., Seoul, South Korea","institution_ids":["https://openalex.org/I139264467"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5009861775"],"corresponding_institution_ids":["https://openalex.org/I139264467"],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.09259162,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"28","issue":null,"first_page":"1","last_page":"6"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10222","display_name":"Genomics and Chromatin Dynamics","score":0.9983000159263611,"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/T10222","display_name":"Genomics and Chromatin Dynamics","score":0.9983000159263611,"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/T10885","display_name":"Gene expression and cancer classification","score":0.9970999956130981,"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":0.9970999956130981,"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":0.6970686912536621},{"id":"https://openalex.org/keywords/context","display_name":"Context (archaeology)","score":0.574562132358551},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.5593335032463074},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.5451192259788513},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.5350130200386047},{"id":"https://openalex.org/keywords/mechanism","display_name":"Mechanism (biology)","score":0.5242626667022705},{"id":"https://openalex.org/keywords/identification","display_name":"Identification (biology)","score":0.4646313786506653},{"id":"https://openalex.org/keywords/gene-mutation","display_name":"Gene mutation","score":0.46028345823287964},{"id":"https://openalex.org/keywords/gene-expression","display_name":"Gene expression","score":0.4101071357727051},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.39957892894744873}],"concepts":[{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.6970686912536621},{"id":"https://openalex.org/C2779343474","wikidata":"https://www.wikidata.org/wiki/Q3109175","display_name":"Context (archaeology)","level":2,"score":0.574562132358551},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5593335032463074},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.5451192259788513},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.5350130200386047},{"id":"https://openalex.org/C89611455","wikidata":"https://www.wikidata.org/wiki/Q6804646","display_name":"Mechanism (biology)","level":2,"score":0.5242626667022705},{"id":"https://openalex.org/C116834253","wikidata":"https://www.wikidata.org/wiki/Q2039217","display_name":"Identification (biology)","level":2,"score":0.4646313786506653},{"id":"https://openalex.org/C2994225774","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Gene mutation","level":4,"score":0.46028345823287964},{"id":"https://openalex.org/C150194340","wikidata":"https://www.wikidata.org/wiki/Q26972","display_name":"Gene expression","level":3,"score":0.4101071357727051},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.39957892894744873},{"id":"https://openalex.org/C151730666","wikidata":"https://www.wikidata.org/wiki/Q7205","display_name":"Paleontology","level":1,"score":0.0},{"id":"https://openalex.org/C59822182","wikidata":"https://www.wikidata.org/wiki/Q441","display_name":"Botany","level":1,"score":0.0},{"id":"https://openalex.org/C138885662","wikidata":"https://www.wikidata.org/wiki/Q5891","display_name":"Philosophy","level":0,"score":0.0},{"id":"https://openalex.org/C111472728","wikidata":"https://www.wikidata.org/wiki/Q9471","display_name":"Epistemology","level":1,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1109/bibm.2013.6732719","is_oa":false,"landing_page_url":"https://doi.org/10.1109/bibm.2013.6732719","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"2013 IEEE International Conference on Bioinformatics and Biomedicine","raw_type":"proceedings-article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/10","score":0.5899999737739563,"display_name":"Reduced inequalities"}],"awards":[],"funders":[{"id":"https://openalex.org/F4320322120","display_name":"National Research Foundation of Korea","ror":"https://ror.org/013aysd81"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":14,"referenced_works":["https://openalex.org/W2007528734","https://openalex.org/W2011417152","https://openalex.org/W2023292217","https://openalex.org/W2061912939","https://openalex.org/W2068112352","https://openalex.org/W2096283457","https://openalex.org/W2100714130","https://openalex.org/W2100980426","https://openalex.org/W2102684430","https://openalex.org/W2104108814","https://openalex.org/W2120558414","https://openalex.org/W2124954099","https://openalex.org/W2152373440","https://openalex.org/W2164837623"],"related_works":["https://openalex.org/W2773838902","https://openalex.org/W2353510567","https://openalex.org/W2550943714","https://openalex.org/W1921465616","https://openalex.org/W2361921133","https://openalex.org/W2371392242","https://openalex.org/W2358122405","https://openalex.org/W4312415685","https://openalex.org/W2406195324","https://openalex.org/W3030632295"],"abstract_inverted_index":{"Identifying":[0],"driver":[1],"mutation":[2,103],"is":[3,71,107],"important":[4],"in":[5,62],"understanding":[6],"disease":[7],"mechanism":[8],"and":[9,101],"future":[10],"application":[11],"of":[12,19,29,45,65,68],"custom":[13],"tailored":[14],"therapeutic":[15],"decision.":[16],"Functional":[17],"analysis":[18],"mutational":[20,89],"impact":[21,61],"usually":[22],"focuses":[23],"on":[24],"the":[25,30,46,63,84,87],"gene":[26,40,117],"expression":[27,41,97,118],"level":[28,95,116],"mutated":[31,47],"gene.":[32,48],"However,":[33],"complex":[34],"regulatory":[35],"network":[36],"may":[37],"cause":[38],"differential":[39],"among":[42],"functional":[43],"neighbors":[44],"We":[49],"suggest":[50],"a":[51],"new":[52],"approach":[53,106],"for":[54],"discovering":[55],"rare":[56,74],"mutations":[57,75,79,112],"that":[58,86,113],"have":[59],"real":[60],"context":[64],"pathway;":[66],"philosophy":[67],"our":[69],"method":[70],"iteratively":[72],"combining":[73],"until":[76],"no":[77],"more":[78],"can":[80,91],"be":[81],"added,":[82],"under":[83],"condition":[85],"combined":[88],"event":[90],"statistically":[92],"discriminate":[93],"pathway":[94,115],"mRNA":[96],"between":[98],"groups":[99],"with":[100],"without":[102],"events.":[104],"Our":[105],"shown":[108],"to":[109],"sensitively":[110],"capture":[111],"change":[114],"at":[119],"breast":[120],"cancer":[121],"data.":[122]},"counts_by_year":[],"updated_date":"2025-11-06T03:46:38.306776","created_date":"2025-10-10T00:00:00"}