{"id":"https://openalex.org/W3005199338","doi":"https://doi.org/10.1109/bibm47256.2019.8983255","title":"Varying Mutational Classes Illuminate Differential Genetic Patterns Between Schizophrenia and Bipolar Disorder","display_name":"Varying Mutational Classes Illuminate Differential Genetic Patterns Between Schizophrenia and Bipolar Disorder","publication_year":2019,"publication_date":"2019-11-01","ids":{"openalex":"https://openalex.org/W3005199338","doi":"https://doi.org/10.1109/bibm47256.2019.8983255","mag":"3005199338"},"language":"en","primary_location":{"id":"doi:10.1109/bibm47256.2019.8983255","is_oa":false,"landing_page_url":"https://doi.org/10.1109/bibm47256.2019.8983255","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"2019 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/A5019386958","display_name":"Weidi Wang","orcid":"https://orcid.org/0000-0002-6312-0689"},"institutions":[{"id":"https://openalex.org/I2802690428","display_name":"Shanghai Mental Health Center","ror":"https://ror.org/05bd2wa15","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I2802690428"]},{"id":"https://openalex.org/I183067930","display_name":"Shanghai Jiao Tong University","ror":"https://ror.org/0220qvk04","country_code":"CN","type":"education","lineage":["https://openalex.org/I183067930"]}],"countries":["CN"],"is_corresponding":true,"raw_author_name":"Weidi Wang","raw_affiliation_strings":["Shanghai Mental Health Center, School of Medicine, Shanghai Jiao Tong University,Shanghai,China","Shanghai Mental Health Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China"],"affiliations":[{"raw_affiliation_string":"Shanghai Mental Health Center, School of Medicine, Shanghai Jiao Tong University,Shanghai,China","institution_ids":["https://openalex.org/I2802690428"]},{"raw_affiliation_string":"Shanghai Mental Health Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China","institution_ids":["https://openalex.org/I2802690428","https://openalex.org/I183067930"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103103615","display_name":"Yu Fang","orcid":"https://orcid.org/0000-0002-0287-5279"},"institutions":[{"id":"https://openalex.org/I183067930","display_name":"Shanghai Jiao Tong University","ror":"https://ror.org/0220qvk04","country_code":"CN","type":"education","lineage":["https://openalex.org/I183067930"]},{"id":"https://openalex.org/I2802690428","display_name":"Shanghai Mental Health Center","ror":"https://ror.org/05bd2wa15","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I2802690428"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Yu Fang","raw_affiliation_strings":["Shanghai Mental Health Center, School of Medicine, Shanghai Jiao Tong University,Shanghai,China","Shanghai Mental Health Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China"],"affiliations":[{"raw_affiliation_string":"Shanghai Mental Health Center, School of Medicine, Shanghai Jiao Tong University,Shanghai,China","institution_ids":["https://openalex.org/I2802690428"]},{"raw_affiliation_string":"Shanghai Mental Health Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China","institution_ids":["https://openalex.org/I2802690428","https://openalex.org/I183067930"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5072570597","display_name":"Xue Jiang","orcid":"https://orcid.org/0000-0003-2109-8660"},"institutions":[{"id":"https://openalex.org/I183067930","display_name":"Shanghai Jiao Tong University","ror":"https://ror.org/0220qvk04","country_code":"CN","type":"education","lineage":["https://openalex.org/I183067930"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Xue Jiang","raw_affiliation_strings":["School of Biomedical Engineering, Shanghai Jiao Tong University,Shanghai,China","School of Biomedical Engineering, Shanghai Jiao Tong University, Shanghai, China"],"affiliations":[{"raw_affiliation_string":"School of Biomedical Engineering, Shanghai Jiao Tong University,Shanghai,China","institution_ids":["https://openalex.org/I183067930"]},{"raw_affiliation_string":"School of Biomedical Engineering, Shanghai Jiao Tong University, Shanghai, China","institution_ids":["https://openalex.org/I183067930"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101705131","display_name":"Wu Huang","orcid":"https://orcid.org/0000-0002-5015-7167"},"institutions":[{"id":"https://openalex.org/I4210099139","display_name":"Novogene Bioinformatics Institute","ror":"https://ror.org/0105k4695","country_code":"CN","type":"company","lineage":["https://openalex.org/I4210099139"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Wu Huang","raw_affiliation_strings":["Novogene Bioinformatics Institute,Beijing,China","Novogene Bioinformatics Institute, Beijing, China"],"affiliations":[{"raw_affiliation_string":"Novogene Bioinformatics Institute,Beijing,China","institution_ids":["https://openalex.org/I4210099139"]},{"raw_affiliation_string":"Novogene Bioinformatics Institute, Beijing, China","institution_ids":["https://openalex.org/I4210099139"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100422437","display_name":"Zhen Wang","orcid":"https://orcid.org/0000-0003-4319-5314"},"institutions":[{"id":"https://openalex.org/I2802690428","display_name":"Shanghai Mental Health Center","ror":"https://ror.org/05bd2wa15","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I2802690428"]},{"id":"https://openalex.org/I183067930","display_name":"Shanghai Jiao Tong University","ror":"https://ror.org/0220qvk04","country_code":"CN","type":"education","lineage":["https://openalex.org/I183067930"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Zhen Wang","raw_affiliation_strings":["Shanghai Mental Health Center, School of Medicine, Shanghai Jiao Tong University,Shanghai,China","Shanghai Mental Health Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China"],"affiliations":[{"raw_affiliation_string":"Shanghai Mental Health Center, School of Medicine, Shanghai Jiao Tong University,Shanghai,China","institution_ids":["https://openalex.org/I2802690428"]},{"raw_affiliation_string":"Shanghai Mental Health Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China","institution_ids":["https://openalex.org/I2802690428","https://openalex.org/I183067930"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5047609717","display_name":"Guan Ning Lin","orcid":"https://orcid.org/0000-0001-9496-0149"},"institutions":[{"id":"https://openalex.org/I183067930","display_name":"Shanghai Jiao Tong University","ror":"https://ror.org/0220qvk04","country_code":"CN","type":"education","lineage":["https://openalex.org/I183067930"]},{"id":"https://openalex.org/I2802690428","display_name":"Shanghai Mental Health Center","ror":"https://ror.org/05bd2wa15","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I2802690428"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Guan Ning Lin","raw_affiliation_strings":["Shanghai Mental Health Center, School of Biomedical Engineering, Shanghai Jiao Tong University,Shanghai,China","Shanghai Mental Health Center, School of Biomedical Engineering, Shanghai Jiao Tong University, Shanghai, China"],"affiliations":[{"raw_affiliation_string":"Shanghai Mental Health Center, School of Biomedical Engineering, Shanghai Jiao Tong University,Shanghai,China","institution_ids":["https://openalex.org/I2802690428","https://openalex.org/I183067930"]},{"raw_affiliation_string":"Shanghai Mental Health Center, School of Biomedical Engineering, Shanghai Jiao Tong University, Shanghai, China","institution_ids":["https://openalex.org/I2802690428","https://openalex.org/I183067930"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":6,"corresponding_author_ids":["https://openalex.org/A5019386958"],"corresponding_institution_ids":["https://openalex.org/I183067930","https://openalex.org/I2802690428"],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":1,"citation_normalized_percentile":{"value":0.1900122,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":97,"max":99},"biblio":{"volume":null,"issue":null,"first_page":"983","last_page":"986"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.9987000226974487,"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/T10261","display_name":"Genetic Associations and Epidemiology","score":0.9987000226974487,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.9933000206947327,"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/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.9821000099182129,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/haploinsufficiency","display_name":"Haploinsufficiency","score":0.7994523048400879},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.6914869546890259},{"id":"https://openalex.org/keywords/schizophrenia","display_name":"Schizophrenia (object-oriented programming)","score":0.6464349031448364},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.6247107982635498},{"id":"https://openalex.org/keywords/single-nucleotide-polymorphism","display_name":"Single-nucleotide polymorphism","score":0.5950906872749329},{"id":"https://openalex.org/keywords/snp","display_name":"SNP","score":0.5692286491394043},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.5592312812805176},{"id":"https://openalex.org/keywords/bipolar-disorder","display_name":"Bipolar disorder","score":0.5289430618286133},{"id":"https://openalex.org/keywords/disease","display_name":"Disease","score":0.4525907337665558},{"id":"https://openalex.org/keywords/copy-number-variation","display_name":"Copy-number variation","score":0.42676177620887756},{"id":"https://openalex.org/keywords/psychiatric-genetics","display_name":"Psychiatric genetics","score":0.41801905632019043},{"id":"https://openalex.org/keywords/mutation","display_name":"Mutation","score":0.4163358807563782},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.3224601745605469},{"id":"https://openalex.org/keywords/phenotype","display_name":"Phenotype","score":0.19482490420341492},{"id":"https://openalex.org/keywords/medicine","display_name":"Medicine","score":0.17816108465194702},{"id":"https://openalex.org/keywords/genome","display_name":"Genome","score":0.13813278079032898},{"id":"https://openalex.org/keywords/neuroscience","display_name":"Neuroscience","score":0.12008798122406006},{"id":"https://openalex.org/keywords/psychiatry","display_name":"Psychiatry","score":0.09888795018196106},{"id":"https://openalex.org/keywords/genotype","display_name":"Genotype","score":0.09040650725364685},{"id":"https://openalex.org/keywords/cognition","display_name":"Cognition","score":0.065707266330719}],"concepts":[{"id":"https://openalex.org/C68838962","wikidata":"https://www.wikidata.org/wiki/Q852654","display_name":"Haploinsufficiency","level":4,"score":0.7994523048400879},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6914869546890259},{"id":"https://openalex.org/C2776412080","wikidata":"https://www.wikidata.org/wiki/Q7431605","display_name":"Schizophrenia (object-oriented programming)","level":2,"score":0.6464349031448364},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6247107982635498},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.5950906872749329},{"id":"https://openalex.org/C139275648","wikidata":"https://www.wikidata.org/wiki/Q17134011","display_name":"SNP","level":5,"score":0.5692286491394043},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.5592312812805176},{"id":"https://openalex.org/C2776174506","wikidata":"https://www.wikidata.org/wiki/Q131755","display_name":"Bipolar disorder","level":3,"score":0.5289430618286133},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.4525907337665558},{"id":"https://openalex.org/C120821319","wikidata":"https://www.wikidata.org/wiki/Q1501491","display_name":"Copy-number variation","level":4,"score":0.42676177620887756},{"id":"https://openalex.org/C84201533","wikidata":"https://www.wikidata.org/wiki/Q7256235","display_name":"Psychiatric genetics","level":3,"score":0.41801905632019043},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.4163358807563782},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.3224601745605469},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.19482490420341492},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.17816108465194702},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.13813278079032898},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.12008798122406006},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.09888795018196106},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.09040650725364685},{"id":"https://openalex.org/C169900460","wikidata":"https://www.wikidata.org/wiki/Q2200417","display_name":"Cognition","level":2,"score":0.065707266330719},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1109/bibm47256.2019.8983255","is_oa":false,"landing_page_url":"https://doi.org/10.1109/bibm47256.2019.8983255","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"2019 IEEE International Conference on Bioinformatics and Biomedicine (BIBM)","raw_type":"proceedings-article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.6800000071525574,"id":"https://metadata.un.org/sdg/3"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":20,"referenced_works":["https://openalex.org/W1956450144","https://openalex.org/W1974854534","https://openalex.org/W1984068087","https://openalex.org/W1987882116","https://openalex.org/W2023962370","https://openalex.org/W2139852368","https://openalex.org/W2151758821","https://openalex.org/W2159675211","https://openalex.org/W2340656051","https://openalex.org/W2345356016","https://openalex.org/W2530539105","https://openalex.org/W2559028527","https://openalex.org/W2587440168","https://openalex.org/W2591133298","https://openalex.org/W2745116209","https://openalex.org/W2799812235","https://openalex.org/W2887127529","https://openalex.org/W2917858269","https://openalex.org/W2963272369","https://openalex.org/W6906592388"],"related_works":["https://openalex.org/W2804323293","https://openalex.org/W2946983779","https://openalex.org/W4309232485","https://openalex.org/W2149641002","https://openalex.org/W2057496292","https://openalex.org/W4386122889","https://openalex.org/W2904738166","https://openalex.org/W2088505726","https://openalex.org/W2604181045","https://openalex.org/W2996064479"],"abstract_inverted_index":{"Schizophrenia":[0],"(SCZ)":[1],"and":[2,18,55,73,82,95,105,131,175,181,187],"bipolar":[3],"disorder":[4],"(BPD)":[5],"are":[6],"two":[7],"severe":[8],"psychiatric":[9],"disorders":[10],"that":[11,37,99,141],"share":[12],"considerable":[13],"comorbidities":[14],"in":[15,53,93,103,110,155,158,185],"both":[16,21],"clinicals":[17],"genetics.":[19],"In":[20,123],"diseases,":[22],"the":[23,80,87,127,165,179],"genetic":[24,183],"susceptibility":[25],"often":[26],"arises":[27],"from":[28],"a":[29,161],"combination":[30],"of":[31,34,61,90,121,134,167,170],"different":[32,59],"types":[33,60,120,169],"variants,":[35,62],"suggesting":[36],"they":[38],"may":[39],"contribute":[40],"their":[41],"effects":[42],"to":[43,78,147],"various":[44,168],"biological":[45,84,173],"pathways.":[46],"Here,":[47],"we":[48,125,163],"compared":[49],"susceptible":[50],"risk":[51],"factors":[52],"SCZ":[54,94,104,186],"BPD":[56,111],"impacted":[57,107,136],"by":[58,108,153],"such":[63],"as":[64],"de":[65],"novo":[66],"mutations":[67],"(DNM),":[68],"single":[69],"nucleotide":[70],"polymorphisms":[71],"(SNP),":[72],"copy":[74],"number":[75],"variants":[76,135,171],"(CNV),":[77],"explore":[79],"shared":[81],"distinct":[83],"pathways":[85,149,174],"underlying":[86],"complex":[88],"structure":[89],"disease":[91],"genetics":[92],"BPD.":[96,159,188],"We":[97],"found":[98],"genes":[100,106,144,151],"carrying":[101],"DNMs":[102],"CNVs":[109,154],"explain":[112],"disease-relevant":[113],"functional":[114],"enrichment":[115],"patterns":[116,184],"more":[117,146],"than":[118,150],"other":[119],"variants.":[122],"addition,":[124],"evaluated":[126],"haploinsufficiency,":[128],"mutation":[129],"burden,":[130],"network":[132],"degree":[133],"genes.":[137],"The":[138],"results":[139],"suggested":[140],"DNM":[142],"affected":[143,148],"contributed":[145],"hit":[152],"SCZ,":[156],"not":[157],"As":[160],"whole,":[162],"investigated":[164],"impacts":[166],"on":[172,178],"provided":[176],"insights":[177],"convergent":[180],"divergent":[182]},"counts_by_year":[{"year":2026,"cited_by_count":1}],"updated_date":"2026-03-09T08:58:05.943551","created_date":"2025-10-10T00:00:00"}