{"id":"https://openalex.org/W4317702954","doi":"https://doi.org/10.1093/bib/bbad017","title":"Deciphering gene contributions and etiologies of somatic mutational signatures of cancer","display_name":"Deciphering gene contributions and etiologies of somatic mutational signatures of cancer","publication_year":2023,"publication_date":"2023-01-21","ids":{"openalex":"https://openalex.org/W4317702954","doi":"https://doi.org/10.1093/bib/bbad017","pmid":"https://pubmed.ncbi.nlm.nih.gov/36682004"},"language":"en","primary_location":{"id":"doi:10.1093/bib/bbad017","is_oa":false,"landing_page_url":"https://doi.org/10.1093/bib/bbad017","pdf_url":null,"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":"article","indexed_in":["crossref","doaj","pubmed"],"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/A5035430076","display_name":"Xiangwen Ji","orcid":"https://orcid.org/0000-0002-9427-1754"},"institutions":[{"id":"https://openalex.org/I20231570","display_name":"Peking University","ror":"https://ror.org/02v51f717","country_code":"CN","type":"education","lineage":["https://openalex.org/I20231570"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Xiangwen Ji","raw_affiliation_strings":["School of Basic Medical Science, Peking University Health Science Center Department of Biomedical Informatics, , Beijing, China"],"raw_orcid":"https://orcid.org/0000-0002-9427-1754","affiliations":[{"raw_affiliation_string":"School of Basic Medical Science, Peking University Health Science Center Department of Biomedical Informatics, , Beijing, China","institution_ids":["https://openalex.org/I20231570"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5075157579","display_name":"Edwin Wang","orcid":"https://orcid.org/0000-0001-8689-5295"},"institutions":[{"id":"https://openalex.org/I168635309","display_name":"University of Calgary","ror":"https://ror.org/03yjb2x39","country_code":"CA","type":"education","lineage":["https://openalex.org/I168635309"]}],"countries":["CA"],"is_corresponding":true,"raw_author_name":"Edwin Wang","raw_affiliation_strings":["Cumming School of Medicine, University of Calgary Department of Biochemistry and Molecular Biology, Medical Genetics, and Oncology, , Calgary, Alberta, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cumming School of Medicine, University of Calgary Department of Biochemistry and Molecular Biology, Medical Genetics, and Oncology, , Calgary, Alberta, Canada","institution_ids":["https://openalex.org/I168635309"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5027886490","display_name":"Qinghua Cui","orcid":"https://orcid.org/0000-0003-3018-5221"},"institutions":[{"id":"https://openalex.org/I20231570","display_name":"Peking University","ror":"https://ror.org/02v51f717","country_code":"CN","type":"education","lineage":["https://openalex.org/I20231570"]}],"countries":["CN"],"is_corresponding":true,"raw_author_name":"Qinghua Cui","raw_affiliation_strings":["School of Basic Medical Science, Peking University Health Science Center Department of Biomedical Informatics, , Beijing, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"School of Basic Medical Science, Peking University Health Science Center Department of Biomedical Informatics, , Beijing, China","institution_ids":["https://openalex.org/I20231570"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5027886490","https://openalex.org/A5075157579"],"corresponding_institution_ids":["https://openalex.org/I168635309","https://openalex.org/I20231570"],"apc_list":{"value":4011,"currency":"USD","value_usd":4011},"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.00397177,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"24","issue":"2","first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11287","display_name":"Cancer Genomics and Diagnostics","score":0.9998000264167786,"subfield":{"id":"https://openalex.org/subfields/1306","display_name":"Cancer Research"},"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/T11287","display_name":"Cancer Genomics and Diagnostics","score":0.9998000264167786,"subfield":{"id":"https://openalex.org/subfields/1306","display_name":"Cancer Research"},"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/T11369","display_name":"Genetic factors in colorectal cancer","score":0.9987000226974487,"subfield":{"id":"https://openalex.org/subfields/2734","display_name":"Pathology and Forensic Medicine"},"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/T10015","display_name":"Genomics and Phylogenetic Studies","score":0.993399977684021,"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/biology","display_name":"Biology","score":0.676127016544342},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.5841414332389832},{"id":"https://openalex.org/keywords/genome","display_name":"Genome","score":0.580207109451294},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.5796130299568176},{"id":"https://openalex.org/keywords/somatic-cell","display_name":"Somatic cell","score":0.5668394565582275},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.5374830961227417},{"id":"https://openalex.org/keywords/transcriptome","display_name":"Transcriptome","score":0.5353942513465881},{"id":"https://openalex.org/keywords/carcinogenesis","display_name":"Carcinogenesis","score":0.48483264446258545},{"id":"https://openalex.org/keywords/rna","display_name":"RNA","score":0.4271096885204315},{"id":"https://openalex.org/keywords/gene-expression","display_name":"Gene expression","score":0.19238221645355225}],"concepts":[{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.676127016544342},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5841414332389832},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.580207109451294},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.5796130299568176},{"id":"https://openalex.org/C134305767","wikidata":"https://www.wikidata.org/wiki/Q725508","display_name":"Somatic cell","level":3,"score":0.5668394565582275},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.5374830961227417},{"id":"https://openalex.org/C162317418","wikidata":"https://www.wikidata.org/wiki/Q252857","display_name":"Transcriptome","level":4,"score":0.5353942513465881},{"id":"https://openalex.org/C555283112","wikidata":"https://www.wikidata.org/wiki/Q1637543","display_name":"Carcinogenesis","level":3,"score":0.48483264446258545},{"id":"https://openalex.org/C67705224","wikidata":"https://www.wikidata.org/wiki/Q11053","display_name":"RNA","level":3,"score":0.4271096885204315},{"id":"https://openalex.org/C150194340","wikidata":"https://www.wikidata.org/wiki/Q26972","display_name":"Gene expression","level":3,"score":0.19238221645355225}],"mesh":[{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009369","descriptor_name":"Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D009369","descriptor_name":"Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D009369","descriptor_name":"Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D012313","descriptor_name":"RNA","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012313","descriptor_name":"RNA","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012313","descriptor_name":"RNA","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D063646","descriptor_name":"Carcinogenesis","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D063646","descriptor_name":"Carcinogenesis","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D063646","descriptor_name":"Carcinogenesis","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1093/bib/bbad017","is_oa":false,"landing_page_url":"https://doi.org/10.1093/bib/bbad017","pdf_url":null,"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:36682004","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/36682004","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":null,"sustainable_development_goals":[{"score":0.7699999809265137,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"awards":[{"id":"https://openalex.org/G105314200","display_name":null,"funder_award_id":"62025102","funder_id":"https://openalex.org/F4320321001","funder_display_name":"National Natural Science Foundation of China"}],"funders":[{"id":"https://openalex.org/F4320321001","display_name":"National Natural Science Foundation of China","ror":"https://ror.org/01h0zpd94"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":102,"referenced_works":["https://openalex.org/W1533942137","https://openalex.org/W1875842236","https://openalex.org/W1919257374","https://openalex.org/W1963987442","https://openalex.org/W1973702005","https://openalex.org/W1978593193","https://openalex.org/W1986911601","https://openalex.org/W1997828131","https://openalex.org/W2003665515","https://openalex.org/W2015935450","https://openalex.org/W2018838463","https://openalex.org/W2026979720","https://openalex.org/W2029641872","https://openalex.org/W2041596509","https://openalex.org/W2049620463","https://openalex.org/W2059481392","https://openalex.org/W2075422414","https://openalex.org/W2084759748","https://openalex.org/W2100697281","https://openalex.org/W2102619694","https://openalex.org/W2107018762","https://openalex.org/W2115276344","https://openalex.org/W2118082971","https://openalex.org/W2118383875","https://openalex.org/W2120240963","https://openalex.org/W2122698311","https://openalex.org/W2128016314","https://openalex.org/W2129136620","https://openalex.org/W2130410032","https://openalex.org/W2132241624","https://openalex.org/W2136786699","https://openalex.org/W2149551151","https://openalex.org/W2152061559","https://openalex.org/W2161633633","https://openalex.org/W2167806431","https://openalex.org/W2168698826","https://openalex.org/W2169456326","https://openalex.org/W2187089797","https://openalex.org/W2204392137","https://openalex.org/W2212096717","https://openalex.org/W2214074259","https://openalex.org/W2220937100","https://openalex.org/W2295282729","https://openalex.org/W2333967858","https://openalex.org/W2529308344","https://openalex.org/W2542991120","https://openalex.org/W2570752636","https://openalex.org/W2593679016","https://openalex.org/W2597577045","https://openalex.org/W2603788844","https://openalex.org/W2611187032","https://openalex.org/W2747558158","https://openalex.org/W2796208126","https://openalex.org/W2800002600","https://openalex.org/W2800392236","https://openalex.org/W2808484886","https://openalex.org/W2903815725","https://openalex.org/W2910094874","https://openalex.org/W2921650138","https://openalex.org/W2940627982","https://openalex.org/W2945072032","https://openalex.org/W2948516395","https://openalex.org/W2951181641","https://openalex.org/W2951912016","https://openalex.org/W2954688009","https://openalex.org/W2963367647","https://openalex.org/W2981329637","https://openalex.org/W2981608667","https://openalex.org/W2997414986","https://openalex.org/W3004480399","https://openalex.org/W3010653800","https://openalex.org/W3028304854","https://openalex.org/W3028978477","https://openalex.org/W3033185003","https://openalex.org/W3041504656","https://openalex.org/W3047825284","https://openalex.org/W3048927005","https://openalex.org/W3081768459","https://openalex.org/W3092852290","https://openalex.org/W3109661160","https://openalex.org/W3111061871","https://openalex.org/W3120966537","https://openalex.org/W3136270220","https://openalex.org/W3147379882","https://openalex.org/W3162035146","https://openalex.org/W3175752499","https://openalex.org/W3195630950","https://openalex.org/W3197367468","https://openalex.org/W3208331474","https://openalex.org/W3208984277","https://openalex.org/W4200143506","https://openalex.org/W4205247356","https://openalex.org/W4211199921","https://openalex.org/W4224263489","https://openalex.org/W4247581106","https://openalex.org/W4253173702","https://openalex.org/W4282980285","https://openalex.org/W4293439913","https://openalex.org/W6671611213","https://openalex.org/W6684830039","https://openalex.org/W6734556779","https://openalex.org/W6797786779"],"related_works":["https://openalex.org/W2399513595","https://openalex.org/W4388386498","https://openalex.org/W2028462563","https://openalex.org/W2942994004","https://openalex.org/W2982720988","https://openalex.org/W2060908277","https://openalex.org/W2048083752","https://openalex.org/W3150324899","https://openalex.org/W4229998356","https://openalex.org/W4388725868"],"abstract_inverted_index":{"Somatic":[0,68],"mutational":[1],"signatures":[2,23],"(MSs)":[3],"identified":[4],"by":[5],"genome":[6],"sequencing":[7,112],"play":[8],"important":[9],"roles":[10],"in":[11,147,156],"exploring":[12],"the":[13,46,75,79,85,89,104,126,166],"cause":[14],"and":[15,27,54,110,124,141,153],"development":[16],"of":[17,29,34,59,78,106,131],"cancer.":[18,35,158],"Thus":[19],"far,":[20],"many":[21],"such":[22],"have":[24],"been":[25],"identified,":[26],"some":[28],"them":[30],"do":[31,43],"imply":[32],"causes":[33],"However,":[36],"a":[37,64,115,129],"major":[38],"bottleneck":[39],"is":[40,84,91],"that":[41,88],"we":[42,62,135,171],"not":[44],"know":[45],"potential":[47],"meanings":[48],"(i.e.":[49],"carcinogenesis":[50],"or":[51,169],"biological":[52],"functions)":[53],"contributing":[55],"genes":[56],"for":[57,128],"most":[58],"them.":[60],"Here,":[61],"presented":[63],"computational":[65],"framework,":[66],"Gene":[67],"Genome":[69],"Pattern":[70],"(GSGP),":[71],"which":[72,101],"can":[73,160],"decipher":[74],"molecular":[76],"mechanisms":[77],"MSs.":[80],"More":[81],"importantly,":[82],"it":[83],"first":[86],"time":[87],"GSGP":[90,117,137,163],"able":[92],"to":[93,138],"process":[94],"MSs":[95],"from":[96],"ribonucleic":[97],"acid":[98,150],"(RNA)":[99],"sequencing,":[100],"greatly":[102],"extended":[103],"applications":[105],"both":[107],"MS":[108,145],"analysis":[109,164],"RNA":[111],"(RNAseq).":[113],"As":[114],"result,":[116],"analyses":[118],"match":[119],"consistently":[120],"with":[121],"previous":[122],"reports":[123],"identify":[125],"etiologies":[127],"number":[130],"novel":[132],"signatures.":[133],"Notably,":[134],"applied":[136],"RNAseq":[139],"data":[140],"revealed":[142],"an":[143],"RNA-derived":[144],"involved":[146],"deficient":[148],"deoxyribonucleic":[149],"mismatch":[151],"repair":[152],"microsatellite":[154],"instability":[155],"colorectal":[157],"Researchers":[159],"perform":[161],"customized":[162],"using":[165],"web":[167],"tools":[168],"scripts":[170],"provide.":[172]},"counts_by_year":[],"updated_date":"2026-05-21T06:26:12.895304","created_date":"2025-10-10T00:00:00"}
