{"id":"https://openalex.org/W7225414402","doi":"https://doi.org/10.1186/s12920-026-02477-5","title":"Whole-exome sequencing revealed co-segregating variants in a multigenerational family with schizophrenia","display_name":"Whole-exome sequencing revealed co-segregating variants in a multigenerational family with schizophrenia","publication_year":2026,"publication_date":"2026-11-06","ids":{"openalex":"https://openalex.org/W7225414402","doi":"https://doi.org/10.1186/s12920-026-02477-5"},"language":"en","primary_location":{"id":"doi:10.1186/s12920-026-02477-5","doi":"https://doi.org/10.1186/s12920-026-02477-5","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s12920-026-02477-5","pdf_url":null,"source":{"id":"https://openalex.org/S119250532","display_name":"BMC Medical Genomics","issn_l":"1755-8794","issn":["1755-8794"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMC Medical Genomics","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://doi.org/10.1186/s12920-026-02477-5","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5161026253","display_name":"Indu Priya","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I145846420","display_name":"University of Jammu","ror":"https://ror.org/02retg991","country_code":"IN","type":"education","lineage":["https://openalex.org/I145846420"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Indu Priya","raw_affiliation_strings":["School of Biotechnology, University of Jammu, Jammu, 180006, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"School of Biotechnology, University of Jammu, Jammu, 180006, India","institution_ids":["https://openalex.org/I145846420"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5059812616","display_name":"Amrit Sudershan","orcid":"https://orcid.org/0000-0001-9439-6736","observed_orcids":["https://orcid.org/0000-0001-9439-6736"]},"institutions":[{"id":"https://openalex.org/I4210099876","display_name":"Cluster University Srinagar","ror":"https://ror.org/0127tex41","country_code":"IN","type":"education","lineage":["https://openalex.org/I4210099876"]},{"id":"https://openalex.org/I4405274834","display_name":"Sri Pratap College","ror":"https://ror.org/02erfe678","country_code":"IN","type":"education","lineage":["https://openalex.org/I4405274834"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Amrit Sudershan","raw_affiliation_strings":["Department of Human Genetics, Sri Pratap College, Cluster University Srinagar, Kashmir, 190001, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, Sri Pratap College, Cluster University Srinagar, Kashmir, 190001, India","institution_ids":["https://openalex.org/I4210099876","https://openalex.org/I4405274834"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5023925493","display_name":"Monika Jaithal","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I145846420","display_name":"University of Jammu","ror":"https://ror.org/02retg991","country_code":"IN","type":"education","lineage":["https://openalex.org/I145846420"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Monika Jaithal","raw_affiliation_strings":["School of Biotechnology, University of Jammu, Jammu, 180006, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"School of Biotechnology, University of Jammu, Jammu, 180006, India","institution_ids":["https://openalex.org/I145846420"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5114445472","display_name":"Ishan Behlam","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I155284866","display_name":"Maharishi Markandeshwar University, Mullana","ror":"https://ror.org/013qfkw58","country_code":"IN","type":"education","lineage":["https://openalex.org/I155284866"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Ishan Behlam","raw_affiliation_strings":["Department of Biochemistry, Maharishi Markandeshwar Institute of Medical Science & Research, Mullana, Ambala, Haryana, 133203, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biochemistry, Maharishi Markandeshwar Institute of Medical Science & Research, Mullana, Ambala, Haryana, 133203, India","institution_ids":["https://openalex.org/I155284866"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5078532133","display_name":"Nisha Kapoor","orcid":"https://orcid.org/0000-0001-9217-6051","observed_orcids":["https://orcid.org/0000-0001-9217-6051"]},"institutions":[{"id":"https://openalex.org/I145846420","display_name":"University of Jammu","ror":"https://ror.org/02retg991","country_code":"IN","type":"education","lineage":["https://openalex.org/I145846420"]}],"countries":["IN"],"is_corresponding":true,"raw_author_name":"Nisha Kapoor","raw_affiliation_strings":["School of Biotechnology, University of Jammu, Jammu, 180006, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"School of Biotechnology, University of Jammu, Jammu, 180006, India","institution_ids":["https://openalex.org/I145846420"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5102104595","display_name":"Manu Arora","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210164371","display_name":"Government Medical College","ror":"https://ror.org/04y908s98","country_code":"IN","type":"education","lineage":["https://openalex.org/I4210164371"]}],"countries":["IN"],"is_corresponding":true,"raw_author_name":"Manu Arora","raw_affiliation_strings":["Government Psychiatric Disease Hospital, Government Medical College Jammu, Jammu, 180001, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Government Psychiatric Disease Hospital, Government Medical College Jammu, Jammu, 180001, India","institution_ids":["https://openalex.org/I4210164371"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":5,"corresponding_author_ids":["https://openalex.org/A5078532133","https://openalex.org/A5102104595"],"corresponding_institution_ids":["https://openalex.org/I145846420","https://openalex.org/I4210164371"],"apc_list":{"value":3190,"currency":"USD","value_usd":3190},"apc_paid":{"value":3190,"currency":"USD","value_usd":3190},"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.0,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10023","display_name":"Schizophrenia research and treatment","score":0.9922000169754028,"subfield":{"id":"https://openalex.org/subfields/2738","display_name":"Psychiatry and Mental health"},"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/T10023","display_name":"Schizophrenia research and treatment","score":0.9922000169754028,"subfield":{"id":"https://openalex.org/subfields/2738","display_name":"Psychiatry and Mental health"},"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/T10261","display_name":"Genetic Associations and Epidemiology","score":0.00279999990016222,"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":0.0017999999690800905,"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/schizophrenia","display_name":"schizophrenia","score":0.9990000128746033},{"id":"https://openalex.org/keywords/co-segregation","display_name":"co-segregation","score":0.6169999837875366},{"id":"https://openalex.org/keywords/rare-variants","display_name":"rare variants","score":0.6439999938011169},{"id":"https://openalex.org/keywords/multiplex-families","display_name":"multiplex families","score":0.8410000205039978},{"id":"https://openalex.org/keywords/mthfr","display_name":"MTHFR","score":0.8659999966621399},{"id":"https://openalex.org/keywords/ykl-40","display_name":"YKL-40","score":0.9869999885559082},{"id":"https://openalex.org/keywords/dopamine-d3-receptor","display_name":"dopamine D3 receptor","score":0.9980000257492065},{"id":"https://openalex.org/keywords/catechol-o-methyltransferase","display_name":"catechol-O-methyltransferase","score":0.9990000128746033},{"id":"https://openalex.org/keywords/dopaminergic-neurotransmission","display_name":"dopamine signaling","score":0.9750000238418579},{"id":"https://openalex.org/keywords/neuroinflammation","display_name":"neuroinflammation","score":0.9860000014305115},{"id":"https://openalex.org/keywords/folate-metabolism","display_name":"folate metabolism","score":0.9990000128746033},{"id":"https://openalex.org/keywords/candidate-genes","display_name":"candidate genes","score":0.6930000185966492},{"id":"https://openalex.org/keywords/genetic-risk","display_name":"genetic risk","score":0.5860000252723694}],"concepts":[{"id":"https://openalex.org/C47042493","wikidata":"https://www.wikidata.org/wiki/Q265799","display_name":"Human genetics","level":3,"score":0.7146000266075134},{"id":"https://openalex.org/C2776412080","wikidata":"https://www.wikidata.org/wiki/Q7431605","display_name":"Schizophrenia (object-oriented programming)","level":2,"score":0.6643000245094299},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5796999931335449},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5239999890327454},{"id":"https://openalex.org/C51679486","wikidata":"https://www.wikidata.org/wiki/Q380546","display_name":"DNA sequencing","level":3,"score":0.3871999979019165},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.37940001487731934},{"id":"https://openalex.org/C64015301","wikidata":"https://www.wikidata.org/wiki/Q5533480","display_name":"Genome Biology","level":5,"score":0.36800000071525574},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.32030001282691956},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3158000111579895},{"id":"https://openalex.org/C189206191","wikidata":"https://www.wikidata.org/wiki/Q222046","display_name":"Genomics","level":4,"score":0.31459999084472656},{"id":"https://openalex.org/C95371953","wikidata":"https://www.wikidata.org/wiki/Q591745","display_name":"DNA microarray","level":4,"score":0.31380000710487366},{"id":"https://openalex.org/C2779473830","wikidata":"https://www.wikidata.org/wiki/Q1540899","display_name":"MEDLINE","level":2,"score":0.2827000021934509},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.25929999351501465},{"id":"https://openalex.org/C37463918","wikidata":"https://www.wikidata.org/wiki/Q387981","display_name":"Allele frequency","level":4,"score":0.2558000087738037}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1186/s12920-026-02477-5","doi":"https://doi.org/10.1186/s12920-026-02477-5","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s12920-026-02477-5","pdf_url":null,"source":{"id":"https://openalex.org/S119250532","display_name":"BMC Medical Genomics","issn_l":"1755-8794","issn":["1755-8794"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMC Medical Genomics","raw_type":"journal-article"}],"best_oa_location":{"id":"doi:10.1186/s12920-026-02477-5","doi":"https://doi.org/10.1186/s12920-026-02477-5","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s12920-026-02477-5","pdf_url":null,"source":{"id":"https://openalex.org/S119250532","display_name":"BMC Medical Genomics","issn_l":"1755-8794","issn":["1755-8794"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMC Medical Genomics","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9763000011444092}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2410263648","https://openalex.org/W2924513475","https://openalex.org/W2746028450","https://openalex.org/W4391389185","https://openalex.org/W2924145794","https://openalex.org/W2922843943","https://openalex.org/W2296923199","https://openalex.org/W4403450662","https://openalex.org/W6921006718","https://openalex.org/W7204947362"],"abstract_inverted_index":{"Schizophrenia":[0],"is":[1],"a":[2,20,34,59],"complex":[3],"neuropsychiatric":[4,119],"disorder":[5],"with":[6,44,56,66,70,137,165],"both":[7],"genetic":[8],"and":[9,91,108,126,129,156,183,190,203],"environmental":[10],"contributions.":[11],"Despite":[12],"extensive":[13],"genome-wide":[14],"studies":[15,199],"identifying":[16],"common":[17,191],"risk":[18,195],"variants,":[19],"substantial":[21],"proportion":[22],"of":[23,76,160,168,187,196],"heritability":[24],"remains":[25],"unexplained.":[26],"Whole-exome":[27],"sequencing":[28],"(WES)":[29],"in":[30,58,74,83,114,118,152,178,200],"multiplex":[31,64],"families":[32],"offers":[33],"valuable":[35],"approach":[36],"to":[37,49,143,193,208],"identify":[38,50],"rare,":[39],"potentially":[40,51,175],"high-impact":[41],"variants":[42,54,113,135,177,192],"segregating":[43],"disease.":[45],"This":[46,170],"study":[47,173],"aimed":[48],"relevant":[52,176],"coding":[53],"associated":[55,164],"schizophrenia":[57,67],"multigenerational":[60],"family.":[61],"A":[62],"four-generation":[63],"family":[65,88],"was":[68,81],"recruited,":[69],"one":[71],"affected":[72,90,138],"individual":[73],"each":[75],"three":[77],"successive":[78],"generations.":[79],"WES":[80,172],"performed":[82],"seven":[84],"individuals":[85,139],"from":[86,141],"the":[87,146,166,185,188,194],"(three":[89],"four":[92],"unaffected).":[93],"Variants":[94],"were":[95],"prioritised":[96],"based":[97],"on":[98],"minor":[99],"allele":[100],"frequency":[101],"(MAF":[102],"<":[103],"0.01),":[104],"predicted":[105],"functional":[106,204],"impact,":[107],"co-segregation":[109],"patterns.":[110],"Five":[111],"candidate":[112,181],"genes":[115,149,182],"previously":[116],"implicated":[117],"pathways\u2014":[120],"rs2066471":[121],"(MTHFR),":[122],"rs147953761":[123],"(CHI3L1),":[124],"rs1490428731":[125],"rs7645908":[127],"(DRD3),":[128],"rs165599":[130],"(COMT)":[131],"MTHFR\u2014were":[132],"identified.":[133],"These":[134,148],"co-segregated":[136],"inherited":[140],"grandmother":[142],"granddaughter":[144],"through":[145],"father.":[147],"are":[150,206],"involved":[151],"dopaminergic":[153],"signalling,":[154],"neuroinflammation,":[155],"folate":[157],"metabolism,":[158],"all":[159],"which":[161],"have":[162],"been":[163],"pathophysiology":[167],"schizophrenia.":[169,197],"family-based":[171],"highlights":[174],"biologically":[179],"plausible":[180],"supports":[184],"contribution":[186],"rare":[189],"Further":[198],"larger":[201],"cohorts":[202],"validation":[205],"required":[207],"establish":[209],"their":[210],"pathogenic":[211],"role.":[212]},"counts_by_year":[],"updated_date":"2026-11-09T13:22:03.289127","created_date":"2026-11-07T00:00:00"}