{"id":"https://openalex.org/W2593498322","doi":"https://doi.org/10.1182/blood.v110.11.106.106","title":"Can Genomic Copy Number Variants Be a Part of Complex Genetic Traits Predisposing to Marrow Failure?.","display_name":"Can Genomic Copy Number Variants Be a Part of Complex Genetic Traits Predisposing to Marrow Failure?.","publication_year":2007,"publication_date":"2007-11-16","ids":{"openalex":"https://openalex.org/W2593498322","doi":"https://doi.org/10.1182/blood.v110.11.106.106","mag":"2593498322"},"language":"en","primary_location":{"id":"doi:10.1182/blood.v110.11.106.106","doi":"https://doi.org/10.1182/blood.v110.11.106.106","is_oa":false,"landing_page_url":"https://doi.org/10.1182/blood.v110.11.106.106","pdf_url":null,"source":{"id":"https://openalex.org/S200071133","display_name":"Blood","issn_l":"0006-4971","issn":["0006-4971","1528-0020"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Blood","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/A5112006005","display_name":"Christine L. O\u2019Keefe","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1316902750","display_name":"Cleveland Clinic","ror":"https://ror.org/03xjacd83","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1316902750"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Christine O\u2019Keefe","raw_affiliation_strings":["Experimental Hematology and Hematopoiesis, Cleveland Clinic, Cleveland, OH, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Experimental Hematology and Hematopoiesis, Cleveland Clinic, Cleveland, OH, USA","institution_ids":["https://openalex.org/I1316902750"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5064140300","display_name":"Lukasz P. Gondek","orcid":"https://orcid.org/0000-0002-1551-3496","observed_orcids":["https://orcid.org/0000-0002-1551-3496"]},"institutions":[{"id":"https://openalex.org/I1316902750","display_name":"Cleveland Clinic","ror":"https://ror.org/03xjacd83","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1316902750"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Lukasz Gondek","raw_affiliation_strings":["Experimental Hematology and Hematopoiesis, Cleveland Clinic, Cleveland, OH, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Experimental Hematology and Hematopoiesis, Cleveland Clinic, Cleveland, OH, USA","institution_ids":["https://openalex.org/I1316902750"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5019842450","display_name":"Marcin W. W\u0142odarski","orcid":"https://orcid.org/0000-0001-6638-9643","observed_orcids":["https://orcid.org/0000-0001-6638-9643","https://orcid.org/0000-0001-6901-6172"]},"institutions":[{"id":"https://openalex.org/I1316902750","display_name":"Cleveland Clinic","ror":"https://ror.org/03xjacd83","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1316902750"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Marcin Wlodarski","raw_affiliation_strings":["Experimental Hematology and Hematopoiesis, Cleveland Clinic, Cleveland, OH, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Experimental Hematology and Hematopoiesis, Cleveland Clinic, Cleveland, OH, USA","institution_ids":["https://openalex.org/I1316902750"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5040758762","display_name":"Judith E. Karp","orcid":"https://orcid.org/0000-0003-4754-127X","observed_orcids":["https://orcid.org/0000-0003-4754-127X"]},"institutions":[{"id":"https://openalex.org/I145311948","display_name":"Johns Hopkins University","ror":"https://ror.org/00za53h95","country_code":"US","type":"education","lineage":["https://openalex.org/I145311948"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Judith Karp","raw_affiliation_strings":["Department of Oncology, Johns Hopkins University, Baltimore, MD, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Oncology, Johns Hopkins University, Baltimore, MD, USA","institution_ids":["https://openalex.org/I145311948"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5078527108","display_name":"Michael A. McDevitt","orcid":"https://orcid.org/0000-0003-0031-5881","observed_orcids":["https://orcid.org/0000-0003-0031-5881"]},"institutions":[{"id":"https://openalex.org/I145311948","display_name":"Johns Hopkins University","ror":"https://ror.org/00za53h95","country_code":"US","type":"education","lineage":["https://openalex.org/I145311948"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Michael McDevitt","raw_affiliation_strings":["Department of Oncology, Johns Hopkins University, Baltimore, MD, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Oncology, Johns Hopkins University, Baltimore, MD, USA","institution_ids":["https://openalex.org/I145311948"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5085974329","display_name":"Jaroslaw Pawel Maciejewski","orcid":"https://orcid.org/0000-0002-6837-4346","observed_orcids":["https://orcid.org/0000-0002-6837-4346"]},"institutions":[{"id":"https://openalex.org/I1316902750","display_name":"Cleveland Clinic","ror":"https://ror.org/03xjacd83","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1316902750"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jaroslaw P. Maciejewski","raw_affiliation_strings":["Experimental Hematology and Hematopoiesis, Cleveland Clinic, Cleveland, OH, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Experimental Hematology and Hematopoiesis, Cleveland Clinic, Cleveland, OH, USA","institution_ids":["https://openalex.org/I1316902750"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5019842450","https://openalex.org/A5040758762","https://openalex.org/A5064140300","https://openalex.org/A5078527108","https://openalex.org/A5112006005"],"corresponding_institution_ids":["https://openalex.org/I1316902750","https://openalex.org/I145311948"],"apc_list":{"value":5500,"currency":"USD","value_usd":5500},"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.31870879,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"110","issue":"11","first_page":"106","last_page":"106"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.9945999979972839,"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":0.9945999979972839,"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/T10309","display_name":"Acute Myeloid Leukemia Research","score":0.002199999988079071,"subfield":{"id":"https://openalex.org/subfields/2720","display_name":"Hematology"},"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":0.001500000013038516,"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/copy-number-variation","display_name":"copy number variation","score":0.9150000214576721},{"id":"https://openalex.org/keywords/aplastic-anemia","display_name":"aplastic anemia","score":0.8149999976158142},{"id":"https://openalex.org/keywords/myelodysplastic-syndrome","display_name":"myelodysplastic syndrome","score":0.9980000257492065},{"id":"https://openalex.org/keywords/acute-myeloid-leukemia","display_name":"acute myeloid leukemia","score":0.9769999980926514},{"id":"https://openalex.org/keywords/myeloid-disorders","display_name":"myeloid disorders","score":0.6520000100135803},{"id":"https://openalex.org/keywords/disease-susceptibility","display_name":"disease susceptibility","score":0.6169999837875366}],"concepts":[{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.6900167465209961},{"id":"https://openalex.org/C122060243","wikidata":"https://www.wikidata.org/wiki/Q7391885","display_name":"SNP array","level":5,"score":0.6714884042739868},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6492745876312256},{"id":"https://openalex.org/C120821319","wikidata":"https://www.wikidata.org/wiki/Q1501491","display_name":"Copy-number variation","level":4,"score":0.6483302116394043},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6182552576065063},{"id":"https://openalex.org/C106208931","wikidata":"https://www.wikidata.org/wiki/Q1098876","display_name":"Genome-wide association study","level":5,"score":0.6005610823631287},{"id":"https://openalex.org/C139275648","wikidata":"https://www.wikidata.org/wiki/Q17134011","display_name":"SNP","level":5,"score":0.4825534224510193},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.2161409556865692},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.20105910301208496},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.17878276109695435}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1182/blood.v110.11.106.106","doi":"https://doi.org/10.1182/blood.v110.11.106.106","is_oa":false,"landing_page_url":"https://doi.org/10.1182/blood.v110.11.106.106","pdf_url":null,"source":{"id":"https://openalex.org/S200071133","display_name":"Blood","issn_l":"0006-4971","issn":["0006-4971","1528-0020"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Blood","raw_type":"journal-article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9922999739646912,"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":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2569261221","https://openalex.org/W1966938977","https://openalex.org/W2563637286","https://openalex.org/W2610557320","https://openalex.org/W2021714239","https://openalex.org/W2782289697","https://openalex.org/W2563965053","https://openalex.org/W2506405324","https://openalex.org/W2580965687","https://openalex.org/W2564624305"],"abstract_inverted_index":{"Abstract":[0],"Individual":[1],"variability,":[2],"including":[3,55,78,121,189,436],"disease":[4,99,118,176,376,487],"susceptibility,":[5],"is":[6,101,372,428,453],"determined":[7,309,367],"by":[8],"the":[9,52,71,94,106,134,166,225,246,303,310,320,322,327,345,382],"interaction":[10],"of":[11,25,32,45,51,96,108,116,136,152,158,220,248,312,319,348,362,474,505],"inherited":[12],"single":[13],"base":[14],"differences":[15],"(single":[16],"nucleotide":[17],"polymorphisms,":[18],"SNPs)":[19],"and":[20,58,75,82,177,184,198,200,217,233,252,271,282,300,352,396,427,438,483,485],"copy":[21,287],"number":[22,288],"variants":[23],"(CNVs)":[24],"large":[26],"genomic":[27],"regions.":[28],"A":[29],"complex":[30,76,117,475],"combination":[31],"these":[33],"factors":[34,174],"may":[35,470],"result":[36],"in":[37,61,91,140,186,215,236,245,260,290,302,315,336,344,359,385,391,402,410,417,465,478,494,501],"a":[38,149,218,306,353,369,429,454,472],"genetic":[39,476],"background":[40],"predisposing":[41],"to":[42,65,165,175,179,242,254,265,332,389,446,467,498],"disease.":[43,84],"Regions":[44],"CNV":[46,371],"account":[47],"for":[48,133,379,433],"approximately":[49],"12%":[50],"human":[53],"genome,":[54],"coding":[56],"sequences":[57],"can":[59,123,170],"range":[60],"size":[62,261],"from":[63,262],"kilobases":[64],"megabases.":[66],"Recent":[67],"studies":[68,146],"have":[69,87,127,497],"investigated":[70,90],"correlation":[72],"between":[73],"CNVs":[74,97,169,235,258,314,321,381,469,496],"conditions,":[77],"mental":[79],"retardation,":[80],"lupus":[81],"cardiovascular":[83],"While":[85,378],"SNPs":[86],"been":[88],"intensely":[89],"many":[92],"diseases,":[93],"influence":[95],"on":[98,274,355],"susceptibility":[100],"only":[102],"poorly":[103],"understood.":[104],"With":[105],"advent":[107],"high-throughput,":[109],"high":[110,150],"density":[111],"array":[112],"technology,":[113],"global":[114],"analysis":[115,135,157,504],"predisposition":[119,173,488],"traits,":[120],"CNVs,":[122,154],"be":[124,255,471,499],"performed.":[125],"We":[126,210,230,284,365],"applied":[128],"high-density":[129],"SNP":[130,228,502],"arrays":[131],"(SNP-A)":[132],"somatic":[137,159,506],"chromosomal":[138,443,507],"defects":[139],"various":[141],"hematologic":[142,434],"disorders.":[143,294],"During":[144],"our":[145,156,298],"we":[147,308],"noted":[148],"frequency":[151,185,239,323],"germ-line":[153],"complicating":[155],"defects.":[160],"This":[161],"observation":[162],"lead":[163],"us":[164],"hypothesis":[167],"that":[168,441],"themselves":[171],"constitute":[172,486],"chose":[178],"systematically":[180],"investigate":[181],"their":[182,238,491],"type":[183],"myeloid":[187,206,293],"disorders":[188],"aplastic":[190],"anemia":[191],"(AA;":[192],"N=65),":[193],"myelodysplastic":[194],"syndrome":[195],"(MDS;":[196],"N=145)":[197],"primary":[199],"secondary":[201],"(non-core":[202],"binding":[203],"factor)":[204],"acute":[205],"leukemia":[207],"(AML;":[208],"N=75).":[209],"performed":[211],"whole":[212],"genome":[213],"scanning":[214],"patients":[216,291,386,403,479],"cohort":[219,299],"healthy":[221],"controls":[222,296],"(N=79)":[223],"using":[224],"Affymetrix":[226],"250K":[227],"array.":[229],"first":[231],"identified":[232,273,358],"catalogued":[234],"controls;":[237],"was":[240,324,334],"compared":[241],"those":[243,301,390],"reported":[244],"Database":[247],"Genomic":[249],"Variants":[250],"(http://projects.tcag.ca/variation/)":[251],"found":[253,384],"similar.":[256],"The":[257,420,449],"ranged":[259],"245.6":[263],"Kb":[264],"2.32":[266],"Mb":[267],"(average":[268],"805.9":[269],"Kb)":[270],"were":[272,357,387,398],"all":[275],"chromosomes":[276],"except":[277],"5,":[278],"13,":[279],"16,":[280],"18":[281],"21.":[283],"next":[285],"analyzed":[286],"changes":[289],"with":[292,374,404,480],"Using":[295],"(both":[297],"literature)":[304],"as":[305],"reference":[307],"frequencies":[311,383],"recurrent":[313],"patients.":[316],"For":[317],"most":[318,380],"<10%":[325],"within":[326],"individual":[328],"patient":[329],"groups,":[330],"similar":[331,388],"what":[333],"seen":[335],"controls.":[337],"Nonetheless,":[338],"four":[339],"regions":[340],"(2":[341],"distinct":[342,370],"loci":[343],"pericentromeric":[346,350],"region":[347,421,432],"14q,":[349],"15q":[351],"locus":[354,450],"17q21.31)":[356],"over":[360],"15%":[361],"samples":[363],"studied.":[364],"then":[366],"whether":[368],"associated":[373],"specific":[375],"risk.":[377],"controls,":[392,411,418],"two":[393],"regions,":[394],"3q29":[395,423],"14q11.2,":[397,413],"more":[399],"frequently":[400],"encountered":[401],"AML":[405,484],"(3q29,":[406],"27/75":[407],"vs.":[408,415],"13/79":[409],"p=0.01;":[412],"20/75":[414],"8/79":[416],"p=0.014).":[419],"at":[422,451],"contains":[424],"several":[425],"genes":[426],"common":[430],"breakpoint":[431],"malignancies":[435],"MDS":[437,482],"AML,":[439],"suggesting":[440],"this":[442],"area":[444],"sensitive":[445],"physical":[447],"rearrangement.":[448],"14q11.2":[452],"known":[455],"hypervariable":[456],"region,":[457],"containing":[458],"T":[459],"cell":[460],"receptor":[461],"genes.":[462],"In":[463],"sum,":[464],"addition":[466],"SNPs,":[468],"part":[473],"traits":[477],"AA,":[481],"factors.":[489],"Beyond":[490],"potential":[492],"role":[493],"disease,":[495],"excluded":[500],"array-based":[503],"lesions.":[508]},"counts_by_year":[],"updated_date":"2026-09-26T08:19:03.415552","created_date":"2017-03-16T00:00:00"}