{"id":"https://openalex.org/W1873776007","doi":null,"title":"A natural allelic series of complex structural variants and its influence on the risk of lupus and schizophrenia","display_name":"A natural allelic series of complex structural variants and its influence on the risk of lupus and schizophrenia","publication_year":2014,"publication_date":"2014-10-21","ids":{"openalex":"https://openalex.org/W1873776007","mag":"1873776007"},"language":"en","primary_location":{"id":"pmh:oai:dash.harvard.edu:1/13070061","doi":null,"is_oa":true,"landing_page_url":"http://dissertations.umi.com/gsas.harvard.inactive:11728","pdf_url":"http://nrs.harvard.edu/urn-3:HUL.InstRepos:13070061","source":{"id":"https://openalex.org/S4306401540","display_name":"Digital Access to Scholarship at Harvard (DASH) (Harvard University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I136199984","host_organization_name":"Harvard University","host_organization_lineage":["https://openalex.org/I136199984"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"Thesis or Dissertation"},"volume":null,"type":"dissertation","is_traditional":true,"indexed_in":[],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"http://nrs.harvard.edu/urn-3:HUL.InstRepos:13070061","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5087340009","display_name":"Aswin Sekar","orcid":"https://orcid.org/0000-0003-0406-0935","observed_orcids":["https://orcid.org/0000-0003-0406-0935"]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Aswin Sekar","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0003-0406-0935","affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":["https://openalex.org/A5087340009"],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":true,"cited_by_count":2,"citation_normalized_percentile":null,"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/T10308","display_name":"Systemic Lupus Erythematosus Research","score":0.5092999935150146,"subfield":{"id":"https://openalex.org/subfields/2745","display_name":"Rheumatology"},"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/T10308","display_name":"Systemic Lupus Erythematosus Research","score":0.5092999935150146,"subfield":{"id":"https://openalex.org/subfields/2745","display_name":"Rheumatology"},"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":0.459199994802475,"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":0.015399999916553497,"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/structural-variants","display_name":"structural variants","score":0.6230000257492065},{"id":"https://openalex.org/keywords/c4-gene","display_name":"C4 gene","score":0.6919999718666077},{"id":"https://openalex.org/keywords/complement-system","display_name":"complement system","score":0.7710000276565552},{"id":"https://openalex.org/keywords/systemic-lupus-erythematosus","display_name":"systemic lupus erythematosus","score":0.953000009059906},{"id":"https://openalex.org/keywords/schizophrenia","display_name":"schizophrenia","score":1.0},{"id":"https://openalex.org/keywords/hla-locus","display_name":"HLA locus","score":0.8980000019073486},{"id":"https://openalex.org/keywords/copy-number-variation","display_name":"copy number variation","score":0.722000002861023},{"id":"https://openalex.org/keywords/allelic-series","display_name":"allelic series","score":0.7200000286102295},{"id":"https://openalex.org/keywords/structural-variant-imputation","display_name":"structural variant imputation","score":0.6309999823570251},{"id":"https://openalex.org/keywords/gene-expression","display_name":"gene expression","score":0.7599999904632568},{"id":"https://openalex.org/keywords/synaptic-pruning","display_name":"synaptic pruning","score":0.6330000162124634},{"id":"https://openalex.org/keywords/microglia","display_name":"microglia","score":0.8500000238418579},{"id":"https://openalex.org/keywords/association-tests","display_name":"association testing","score":0.44699999690055847},{"id":"https://openalex.org/keywords/disease-risk","display_name":"disease risk","score":0.4259999990463257}],"concepts":[{"id":"https://openalex.org/C2776412080","wikidata":"https://www.wikidata.org/wiki/Q7431605","display_name":"Schizophrenia (object-oriented programming)","level":2,"score":0.6859372854232788},{"id":"https://openalex.org/C2776912625","wikidata":"https://www.wikidata.org/wiki/Q1485","display_name":"Systemic lupus erythematosus","level":3,"score":0.5217828750610352},{"id":"https://openalex.org/C143724316","wikidata":"https://www.wikidata.org/wiki/Q312468","display_name":"Series (stratigraphy)","level":2,"score":0.5082111358642578},{"id":"https://openalex.org/C2776608160","wikidata":"https://www.wikidata.org/wiki/Q4785462","display_name":"Natural (archaeology)","level":2,"score":0.45216336846351624},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.4151774048805237},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.35986819863319397},{"id":"https://openalex.org/C15744967","wikidata":"https://www.wikidata.org/wiki/Q9418","display_name":"Psychology","level":0,"score":0.348591685295105},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3117605149745941},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.28725776076316833},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.27384454011917114},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.09563690423965454},{"id":"https://openalex.org/C151730666","wikidata":"https://www.wikidata.org/wiki/Q7205","display_name":"Paleontology","level":1,"score":0.09441089630126953},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.08502614498138428},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.06820163130760193}],"mesh":[],"locations_count":2,"locations":[{"id":"pmh:oai:dash.harvard.edu:1/13070061","doi":null,"is_oa":true,"landing_page_url":"http://dissertations.umi.com/gsas.harvard.inactive:11728","pdf_url":"http://nrs.harvard.edu/urn-3:HUL.InstRepos:13070061","source":{"id":"https://openalex.org/S4306401540","display_name":"Digital Access to Scholarship at Harvard (DASH) (Harvard University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I136199984","host_organization_name":"Harvard University","host_organization_lineage":["https://openalex.org/I136199984"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"Thesis or Dissertation"},{"id":"mag:1873776007","doi":null,"is_oa":false,"landing_page_url":"https://dash.harvard.edu/handle/1/13070061","pdf_url":null,"source":null,"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":null}],"best_oa_location":{"id":"pmh:oai:dash.harvard.edu:1/13070061","doi":null,"is_oa":true,"landing_page_url":"http://dissertations.umi.com/gsas.harvard.inactive:11728","pdf_url":"http://nrs.harvard.edu/urn-3:HUL.InstRepos:13070061","source":{"id":"https://openalex.org/S4306401540","display_name":"Digital Access to Scholarship at Harvard (DASH) (Harvard University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I136199984","host_organization_name":"Harvard University","host_organization_lineage":["https://openalex.org/I136199984"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"Thesis or Dissertation"},"sustainable_development_goals":[{"score":0.9537000060081482,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W1873776007.pdf","grobid_xml":"https://content.openalex.org/works/W1873776007.grobid-xml"},"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W3044094568","https://openalex.org/W2255138985","https://openalex.org/W2923442386","https://openalex.org/W1998780818","https://openalex.org/W2275808512","https://openalex.org/W4412028213","https://openalex.org/W2083515064","https://openalex.org/W4412728348","https://openalex.org/W2291889783","https://openalex.org/W2031185382"],"abstract_inverted_index":{"The":[0,320],"human":[1,142,190,292,318],"genome's":[2],"strongest":[3],"influences":[4],"on":[5,97,227],"two":[6],"common":[7,133],"diseases,":[8],"systemic":[9],"lupus":[10],"erythematosus":[11],"(SLE)":[12],"and":[13,29,71,105,112,134,154,189,199,233,251,271,332],"schizophrenia,":[14],"arise":[15],"from":[16,173],"genetic":[17,34,92],"variation":[18,48,153,180,211,341],"in":[19,49,67,74,131,141,185,212,220,230,291,311,323],"the":[20,27,50,57,123,274],"Human":[21],"Leukocyte":[22],"Antigen":[23],"(HLA)":[24],"locus.":[25],"However,":[26],"genes":[28,299],"functional":[30],"alleles":[31,241],"driving":[32],"these":[33,61,120],"relationships":[35],"have":[36,77],"remained":[37],"unknown.":[38],"We":[39],"hypothesized":[40],"that":[41,65,128,209,242,273,314],"a":[42,84,221,255,265,309,336,344],"complex,":[43],"multi-allelic":[44],"form":[45,267,338],"of":[46,169,217,238,259,268,328,339],"structural":[47,69,139,152,171,179,210,261,330],"Complement":[51],"component":[52],"4":[53],"(C4)":[54],"gene,":[55],"within":[56],"HLA":[58,286],"locus,":[59,125],"underlies":[60],"relationships.":[62],"\\t\\n":[63],"Loci":[64],"exist":[66],"many":[68],"forms":[70,140],"vary":[72],"widely":[73],"copy":[75],"number":[76],"been":[78],"difficult":[79],"to":[80,108,113,117,122,165,182,197,215,276,280,347],"analyze":[81],"molecularly.":[82],"As":[83],"result,":[85],"we":[86,102,126,160,207,263],"know":[87],"little":[88],"about":[89],"their":[90,95,115],"population":[91],"properties":[93],"or":[94],"influence":[96],"phenotypes.":[98,348],"In":[99],"this":[100,324],"work,":[101],"developed":[103,161,264,322],"molecular":[104],"statistical":[106,167],"methods":[107,121,321],"characterize":[109],"such":[110],"loci":[111],"evaluate":[114],"contribution":[116,346],"phenotypes.\\n":[118],"Applying":[119,193],"C4":[124,129,151,170,178,213,260,277,288,307],"found":[127,208],"segregates":[130],"four":[132],"at":[135],"least":[136],"eleven":[137],"low-frequency":[138],"populations.":[143],"Although":[144],"there":[145],"was":[146,289,315],"only":[147],"partial":[148],"correlation":[149,284],"between":[150],"individual":[155],"single":[156],"nucleotide":[157],"polymorphisms":[158],"(SNPs),":[159],"an":[162],"imputation":[163,195],"approach":[164],"enable":[166,326],"prediction":[168],"states":[172],"flanking":[174],"SNP":[175],"haplotypes.":[176],"\\n":[177],"associated":[181],"gene":[183,228],"expression":[184,229],"lymphoblastoid":[186],"cell":[187],"lines":[188],"brain":[191],"tissue.":[192],"our":[194,333],"strategy":[196],"SLE":[198],"schizophrenia":[200,246],"case-control":[201],"cohorts":[202],"totaling":[203],">":[204],"75,000":[205],"individuals,":[206],"contributes":[214],"risk":[216,248],"both":[218],"phenotypes":[219],"manner":[222],"predicted":[223],"by":[224,283,303,317],"its":[225],"effect":[226,239],"relevant":[231],"tissues,":[232],"with":[234,285],"largely":[235],"opposite":[236],"directions":[237],"-":[240],"were":[243,300],"protective":[244],"for":[245,249],"increased":[247],"SLE,":[250],"vice":[252],"versa.":[253],"Leveraging":[254],"natural":[256],"allelic":[257],"series":[258],"forms,":[262],"novel":[266,337],"association":[269,275],"testing":[270],"showed":[272,308],"is":[278],"unlikely":[279],"be":[281],"caused":[282],"SNPs.":[287],"expressed":[290,301],"neurons,":[293],"whereas":[294],"other":[295],"upstream":[296],"complement":[297],"pathway":[298],"primarily":[302],"microglia.":[304],"Mice":[305],"lacking":[306],"deficit":[310],"synaptic":[312],"pruning":[313],"rescued":[316],"C4.\\n":[319],"thesis":[325],"analysis":[327],"complex":[329],"variation,":[331],"results":[334],"identify":[335],"genome":[340],"as":[342],"making":[343],"strong":[345]},"counts_by_year":[{"year":2018,"cited_by_count":1},{"year":2016,"cited_by_count":1}],"updated_date":"2026-09-26T08:19:03.415552","created_date":"2016-06-24T00:00:00"}