{"id":"https://openalex.org/W4246766780","doi":"https://doi.org/10.1016/j.jalz.2010.05.641","title":"P1\u2010093: Preliminary analysis of copy number variation in the ADNI cohort","display_name":"P1\u2010093: Preliminary analysis of copy number variation in the ADNI cohort","publication_year":2010,"publication_date":"2010-07-01","ids":{"openalex":"https://openalex.org/W4246766780","doi":"https://doi.org/10.1016/j.jalz.2010.05.641"},"language":"en","primary_location":{"id":"doi:10.1016/j.jalz.2010.05.641","doi":"https://doi.org/10.1016/j.jalz.2010.05.641","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.jalz.2010.05.641","pdf_url":null,"source":{"id":"https://openalex.org/S108427512","display_name":"Alzheimer s & Dementia","issn_l":"1552-5260","issn":["1552-5260","1552-5279"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-3","ki-jl-3","medline","norway-1","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Alzheimer's &amp; Dementia","raw_type":"journal-article"},"volume":null,"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/A5045310777","display_name":"Shanker Swaminathan","orcid":"https://orcid.org/0000-0003-4625-6370","observed_orcids":["https://orcid.org/0000-0003-4625-6370"]},"institutions":[{"id":"https://openalex.org/I4394709130","display_name":"Indiana University School of Medicine","ror":"https://ror.org/02ets8c94","country_code":"US","type":"education","lineage":["https://openalex.org/I4394709130","https://openalex.org/I592451"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Shanker Swaminathan","raw_affiliation_strings":["Indiana University School of Medicine, Indianapolis, IN, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Indiana University School of Medicine, Indianapolis, IN, USA","institution_ids":["https://openalex.org/I4394709130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100709689","display_name":"Sungeun Kim","orcid":"https://orcid.org/0000-0002-7558-8502","observed_orcids":["https://orcid.org/0000-0002-7558-8502","https://orcid.org/0000-0003-2879-6963"]},"institutions":[{"id":"https://openalex.org/I4394709130","display_name":"Indiana University School of Medicine","ror":"https://ror.org/02ets8c94","country_code":"US","type":"education","lineage":["https://openalex.org/I4394709130","https://openalex.org/I592451"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Sungeun Kim","raw_affiliation_strings":["Indiana University School of Medicine, Indianapolis, IN, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Indiana University School of Medicine, Indianapolis, IN, USA","institution_ids":["https://openalex.org/I4394709130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100333320","display_name":"Li Shen","orcid":"https://orcid.org/0000-0002-5443-0503","observed_orcids":["https://orcid.org/0000-0002-5443-0503"]},"institutions":[{"id":"https://openalex.org/I4394709130","display_name":"Indiana University School of Medicine","ror":"https://ror.org/02ets8c94","country_code":"US","type":"education","lineage":["https://openalex.org/I4394709130","https://openalex.org/I592451"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Li Shen","raw_affiliation_strings":["Indiana University School of Medicine, Indianapolis, IN, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Indiana University School of Medicine, Indianapolis, IN, USA","institution_ids":["https://openalex.org/I4394709130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5018610871","display_name":"Shannon L. Risacher","orcid":"https://orcid.org/0000-0002-3304-7943","observed_orcids":["https://orcid.org/0000-0002-3304-7943"]},"institutions":[{"id":"https://openalex.org/I4394709130","display_name":"Indiana University School of Medicine","ror":"https://ror.org/02ets8c94","country_code":"US","type":"education","lineage":["https://openalex.org/I4394709130","https://openalex.org/I592451"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Shannon L. Risacher","raw_affiliation_strings":["Indiana University School of Medicine, Indianapolis, IN, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Indiana University School of Medicine, Indianapolis, IN, USA","institution_ids":["https://openalex.org/I4394709130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5048034644","display_name":"Tatiana Foroud","orcid":"https://orcid.org/0000-0002-5549-2212","observed_orcids":["https://orcid.org/0000-0002-5549-2212"]},"institutions":[{"id":"https://openalex.org/I4394709130","display_name":"Indiana University School of Medicine","ror":"https://ror.org/02ets8c94","country_code":"US","type":"education","lineage":["https://openalex.org/I4394709130","https://openalex.org/I592451"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Tatiana Foroud","raw_affiliation_strings":["Indiana University School of Medicine, Indianapolis, IN, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Indiana University School of Medicine, Indianapolis, IN, USA","institution_ids":["https://openalex.org/I4394709130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5030905089","display_name":"Nathan Pankratz","orcid":"https://orcid.org/0000-0001-5958-693X","observed_orcids":["https://orcid.org/0000-0001-5958-693X"]},"institutions":[{"id":"https://openalex.org/I4394709130","display_name":"Indiana University School of Medicine","ror":"https://ror.org/02ets8c94","country_code":"US","type":"education","lineage":["https://openalex.org/I4394709130","https://openalex.org/I592451"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Nathan Pankratz","raw_affiliation_strings":["Indiana University School of Medicine, Indianapolis, IN, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Indiana University School of Medicine, Indianapolis, IN, USA","institution_ids":["https://openalex.org/I4394709130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5050834331","display_name":"Steven G. Potkin","orcid":"https://orcid.org/0000-0003-1028-1013","observed_orcids":["https://orcid.org/0000-0003-1028-1013"]},"institutions":[{"id":"https://openalex.org/I204250578","display_name":"University of California, Irvine","ror":"https://ror.org/04gyf1771","country_code":"US","type":"education","lineage":["https://openalex.org/I204250578"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Steven G. Potkin","raw_affiliation_strings":["University of California, Irvine, CA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of California, Irvine, CA, USA","institution_ids":["https://openalex.org/I204250578"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5037628555","display_name":"Matthew J. Huentelman","orcid":"https://orcid.org/0000-0001-7390-9918","observed_orcids":["https://orcid.org/0000-0001-7390-9918"]},"institutions":[{"id":"https://openalex.org/I1284308235","display_name":"Translational Genomics Research Institute","ror":"https://ror.org/02hfpnk21","country_code":"US","type":"facility","lineage":["https://openalex.org/I1284308235"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Matthew J. Huentelman","raw_affiliation_strings":["The Translational Genomics Research Institute, Phoenix, AZ, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Translational Genomics Research Institute, Phoenix, AZ, USA","institution_ids":["https://openalex.org/I1284308235"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5074460206","display_name":"David Wesley Craig","orcid":"https://orcid.org/0000-0003-2040-1955","observed_orcids":["https://orcid.org/0000-0003-2040-1955","https://orcid.org/0000-0003-0239-9441"]},"institutions":[{"id":"https://openalex.org/I1284308235","display_name":"Translational Genomics Research Institute","ror":"https://ror.org/02hfpnk21","country_code":"US","type":"facility","lineage":["https://openalex.org/I1284308235"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"David W. Craig","raw_affiliation_strings":["The Translational Genomics Research Institute, Phoenix, AZ, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Translational Genomics Research Institute, Phoenix, AZ, USA","institution_ids":["https://openalex.org/I1284308235"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5102977342","display_name":"Michael Walter Weiner","orcid":"https://orcid.org/0000-0002-0144-1954","observed_orcids":["https://orcid.org/0000-0002-0144-1954","https://orcid.org/0000-0002-7601-0702","https://orcid.org/0000-0002-0877-4583"]},"institutions":[{"id":"https://openalex.org/I180670191","display_name":"University of California, San Francisco","ror":"https://ror.org/043mz5j54","country_code":"US","type":"education","lineage":["https://openalex.org/I180670191"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Michael W. Weiner","raw_affiliation_strings":["University of California San Francisco, San Francisco, CA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of California San Francisco, San Francisco, CA, USA","institution_ids":["https://openalex.org/I180670191"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5026257338","display_name":"Andrew J. Saykin","orcid":"https://orcid.org/0000-0002-1376-8532","observed_orcids":["https://orcid.org/0000-0002-1376-8532"]},"institutions":[{"id":"https://openalex.org/I4394709130","display_name":"Indiana University School of Medicine","ror":"https://ror.org/02ets8c94","country_code":"US","type":"education","lineage":["https://openalex.org/I4394709130","https://openalex.org/I592451"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Andrew J. Saykin","raw_affiliation_strings":["Indiana University School of Medicine, Indianapolis, IN, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Indiana University School of Medicine, Indianapolis, IN, USA","institution_ids":["https://openalex.org/I4394709130"]}]},{"author_position":"last","author":{"id":null,"display_name":"The Alzheimer's Disease Neuroimaging Initiative (ADNI)","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4394709130","display_name":"Indiana University School of Medicine","ror":"https://ror.org/02ets8c94","country_code":"US","type":"education","lineage":["https://openalex.org/I4394709130","https://openalex.org/I592451"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"The Alzheimer's Disease Neuroimaging Initiative (ADNI)","raw_affiliation_strings":["Indiana University School of Medicine, Indianapolis, IN, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Indiana University School of Medicine, Indianapolis, IN, USA","institution_ids":["https://openalex.org/I4394709130"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":4200,"currency":"USD","value_usd":4200},"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.42626822,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"6","issue":"4S_Part_7","first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.7817000150680542,"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/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.7817000150680542,"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/T10009","display_name":"Dementia and Cognitive Impairment Research","score":0.15389999747276306,"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/T10086","display_name":"Alzheimer's disease research and treatments","score":0.04259999841451645,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/copy-number-variation","display_name":"copy number variation","score":0.9990000128746033},{"id":"https://openalex.org/keywords/alzheimer-s-disease","display_name":"Alzheimer's disease","score":0.9990000128746033}],"concepts":[{"id":"https://openalex.org/C120821319","wikidata":"https://www.wikidata.org/wiki/Q1501491","display_name":"Copy-number variation","level":4,"score":0.8900458812713623},{"id":"https://openalex.org/C205778803","wikidata":"https://www.wikidata.org/wiki/Q38404","display_name":"Autism","level":2,"score":0.515002965927124},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5010278224945068},{"id":"https://openalex.org/C72563966","wikidata":"https://www.wikidata.org/wiki/Q1303415","display_name":"Cohort","level":2,"score":0.43147844076156616},{"id":"https://openalex.org/C55548728","wikidata":"https://www.wikidata.org/wiki/Q1465102","display_name":"Gene dosage","level":4,"score":0.4290391802787781},{"id":"https://openalex.org/C7602840","wikidata":"https://www.wikidata.org/wiki/Q746284","display_name":"Gene duplication","level":3,"score":0.4212832450866699},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.41339388489723206},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.4109935760498047},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.36169517040252686},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.2960381507873535},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.2827666401863098},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.1541839838027954},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.1531810164451599},{"id":"https://openalex.org/C150194340","wikidata":"https://www.wikidata.org/wiki/Q26972","display_name":"Gene expression","level":3,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1016/j.jalz.2010.05.641","doi":"https://doi.org/10.1016/j.jalz.2010.05.641","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.jalz.2010.05.641","pdf_url":null,"source":{"id":"https://openalex.org/S108427512","display_name":"Alzheimer s & Dementia","issn_l":"1552-5260","issn":["1552-5260","1552-5279"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-3","ki-jl-3","medline","norway-1","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Alzheimer's &amp; Dementia","raw_type":"journal-article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9940000176429749,"display_name":"Good health and well-being"}],"sustainable_development_goals_aurora":[],"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/W2162635064","https://openalex.org/W2002612339","https://openalex.org/W2170579304","https://openalex.org/W2124599871","https://openalex.org/W2028429141","https://openalex.org/W1554772711","https://openalex.org/W2025926185","https://openalex.org/W2521831193","https://openalex.org/W2103841385","https://openalex.org/W2140669775"],"abstract_inverted_index":{"Copy":[0],"number":[1,20],"variations":[2],"(CNVs)":[3],"are":[4],"segments":[5,183],"of":[6,30,54,143,182,194,213,231],"DNA,":[7],"ranging":[8],"from":[9,108],"1":[10],"kilobase":[11],"(kb)":[12],"to":[13,49,81,209],"several":[14,229],"megabases":[15],"(Mb),":[16],"for":[17,87,216],"which":[18],"copy":[19],"differences":[21,172],"(deletions":[22],"or":[23,32,179,199,203,220],"duplications)":[24],"have":[25,36],"been":[26,37,57,72],"revealed":[27],"by":[28,131,154],"comparison":[29],"two":[31],"more":[33],"genomes.":[34],"CNVs":[35,55,217],"implicated":[38],"in":[39,59,63,74,149,175,201],"neuropsychiatric":[40],"disorders":[41],"such":[42],"as":[43,129],"autism":[44],"and":[45,68,124,145,147,238],"schizophrenia":[46],"[1],":[47],"but":[48],"our":[50],"knowledge":[51],"the":[52,113,186],"role":[53],"has":[56,69],"examined":[58],"only":[60],"one":[61],"study":[62],"Alzheimer's":[64],"disease":[65],"(AD)":[66],"[2]":[67],"not":[70],"yet":[71],"investigated":[73],"amnestic":[75],"mild":[76],"cognitive":[77],"impairment":[78],"(MCI)":[79],"compared":[80,153],"healthy":[82],"controls":[83],"(HC).":[84],"CNV":[85,139,177],"calls":[86],"655":[88],"non-Hispanic":[89],"Caucasian":[90],"ADNI":[91],"participants":[92],"(Current":[93],"diagnosis:":[94],"AD":[95,202],"=":[96,99,102,160,163,166],"285,":[97],"MCI":[98,162,204],"187,":[100],"HC":[101,165],"183),":[103],"whose":[104],"DNA":[105],"were":[106,117,152,173,206],"derived":[107],"peripheral":[109],"blood":[110],"(genotyped":[111],"on":[112],"Illumina":[114],"Human610-Quad":[115],"BeadChip),":[116],"generated":[118],"using":[119],"Log":[120],"R":[121],"Ratio":[122],"(LRR)":[123],"B":[125],"allele":[126],"frequency":[127],"(BAF)":[128],"computed":[130],"PennCNV.":[132],"Quality":[133],"control":[134],"(QC)":[135],"procedures":[136],"followed":[137],"[2].":[138],"burden,":[140],"mean":[141],"size":[142],"deletions":[144,198],"duplications":[146,200],"variation":[148],"gene":[150,224],"regions":[151],"current":[155],"diagnosis.":[156],"440":[157],"samples":[158],"(AD":[159],"193,":[161],"116,":[164],"131)":[167],"passed":[168],"all":[169],"QC.":[170],"No":[171,192],"seen":[174],"overall":[176],"burden":[178],"average":[180],"length":[181],"when":[184],"comparing":[185],"3":[187],"diagnosis":[188],"groups":[189],"(Table":[190],"1).":[191],"excess":[193],"very":[195],"large":[196],"(>1Mb)":[197],"subjects":[205],"found":[207],"relative":[208],"controls.":[210],"Preliminary":[211],"analysis":[212],"case/control":[214],"associations":[215],"partially":[218],"overlapping":[219],"disrupting":[221],"genes":[222,230],"(PLINK":[223],"list:":[225],"hg18":[226],"coordinates),":[227],"identified":[228],"potential":[232],"interest":[233],"including":[234],"TP53TG3,":[235],"CSMD1,":[236],"ANKRD36":[237],"SLC35F2,":[239],"although":[240],"none":[241],"reached":[242],"significance":[243],"(p":[244],"<":[245],"0.05)":[246],"after":[247],"permutation.":[248]},"counts_by_year":[],"updated_date":"2026-10-30T12:39:25.321706","created_date":"2022-05-12T00:00:00"}
