Machiela, Mitchell JMitchell JMachielaZhou, WeiyinWeiyinZhouSampson, Joshua NJoshua NSampsonDean, Michael CMichael CDeanJacobs, Kevin BKevin BJacobsBlack, AmandaAmandaBlackBrinton, Louise ALouise ABrintonChang, I-ShouI-ShouChangChen, ChuChuChenChen, ConstanceConstanceChenChen, KexinKexinChenCook, Linda SLinda SCookCrous Bou, MartaMartaCrous BouDe Vivo, ImmaculataImmaculataDe VivoDoherty, JenniferJenniferDohertyFriedenreich, Christine MChristine MFriedenreichGaudet, Mia MMia MGaudetHaiman, Christopher AChristopher AHaimanHankinson, Susan ESusan EHankinsonHartge, PatriciaPatriciaHartgeHenderson, Brian EBrian EHendersonHong, Yun-ChulYun-ChulHongHosgood, H DeanH DeanHosgoodHsiung, Chao AChao AHsiungHu, WeiWeiHuHunter, David JDavid JHunterJessop, LeaLeaJessopKim, Hee NamHee NamKimKim, Yeul HongYeul HongKimKim, Young TaeYoung TaeKimKlein, RobertRobertKleinKraft, PeterPeterKraftLan, QingQingLanLin, DongxinDongxinLinLiu, JianjunJianjunLiuLe Marchand, LoicLoicLe MarchandLiang, XiaolinXiaolinLiangLissowska, JolantaJolantaLissowskaLu, LingengLingengLuMagliocco, Anthony MAnthony MMaglioccoMatsuo, KeitaroKeitaroMatsuoOlson, Sara HSara HOlsonOrlow, IreneIreneOrlowPark, Jae YongJae YongParkPooler, LoreallLoreallPoolerPrescott, JenniferJenniferPrescottRastogi, RadhaiRadhaiRastogiRisch, Harvey AHarvey ARischSchumacher, FredrickFredrickSchumacherSeow, AdelineAdelineSeowSetiawan, Veronica WendyVeronica WendySetiawanShen, HongbingHongbingShenSheng, XinXinShengShin, Min-HoMin-HoShinShu, Xiao-OuXiao-OuShuVanDen Berg, DavidDavidVanDen BergWang, Jiu-CunJiu-CunWangWentzensen, NicolasNicolasWentzensenWong, Maria PikMaria PikWongWu, ChenChenWuWu, TangchunTangchunWuWu, Yi-LongYi-LongWuXia, LucyLucyXiaYang, Hannah PHannah PYangPAN-CHYR YANGZheng, WeiWeiZhengZhou, BaosenBaosenZhouAbnet, Christian CChristian CAbnetAlbanes, DemetriusDemetriusAlbanesAldrich, Melinda CMelinda CAldrichAmos, ChristopherChristopherAmosAmundadottir, Laufey TLaufey TAmundadottirBerndt, Sonja ISonja IBerndtBlot, William JWilliam JBlotBock, Cathryn HCathryn HBockBracci, Paige MPaige MBracciBurdett, LaurieLaurieBurdettBuring, Julie EJulie EBuringButler, Mary AMary AButlerCarreón, TaniaTaniaCarreónChatterjee, NilanjanNilanjanChatterjeeChung, Charles CCharles CChungCook, Michael BMichael BCookCullen, MichaelMichaelCullenDavis, Faith GFaith GDavisDing, TiTiDingDuell, Eric JEric JDuellEpstein, Caroline GCaroline GEpsteinFan, Jin-HuJin-HuFanFigueroa, Jonine DJonine DFigueroaFraumeni, Joseph FJoseph FFraumeniFreedman, Neal DNeal DFreedmanFuchs, Charles SCharles SFuchsGao, Yu-TangYu-TangGaoGapstur, Susan MSusan MGapsturPatiño-Garcia, AnaAnaPatiño-GarciaGarcia-Closas, MontserratMontserratGarcia-ClosasGaziano, J MichaelJ MichaelGazianoGiles, Graham GGraham GGilesGillanders, Elizabeth MElizabeth MGillandersGiovannucci, Edward LEdward LGiovannucciGoldin, LynnLynnGoldinGoldstein, Alisa MAlisa MGoldsteinGreene, Mark HMark HGreeneHallmans, GoranGoranHallmansHarris, Curtis CCurtis CHarrisHenriksson, RogerRogerHenrikssonHolly, Elizabeth AElizabeth AHollyHoover, Robert NRobert NHooverHu, NanNanHuHutchinson, AmyAmyHutchinsonJenab, MazdaMazdaJenabJohansen, ChristofferChristofferJohansenKhaw, Kay-TeeKay-TeeKhawKoh, Woon-PuayWoon-PuayKohKolonel, Laurence NLaurence NKolonelKooperberg, CharlesCharlesKooperbergKrogh, VittorioVittorioKroghKurtz, Robert CRobert CKurtzLaCroix, AndreaAndreaLaCroixLandgren, AnnelieAnnelieLandgrenLandi, Maria TeresaMaria TeresaLandiLi, DonghuiDonghuiLiLiao, Linda MLinda MLiaoMalats, NuriaNuriaMalatsMcGlynn, Katherine AKatherine AMcGlynnMcNeill, Lorna HLorna HMcNeillMcWilliams, Robert RRobert RMcWilliamsMelin, Beatrice SBeatrice SMelinMirabello, LisaLisaMirabelloPeplonska, BeataBeataPeplonskaPeters, UlrikeUlrikePetersPetersen, Gloria MGloria MPetersenProkunina-Olsson, LudmilaLudmilaProkunina-OlssonPurdue, MarkMarkPurdueQiao, You-LinYou-LinQiaoRabe, Kari GKari GRabeRajaraman, PreethaPreethaRajaramanReal, Francisco XFrancisco XRealRiboli, ElioElioRiboliRodríguez-Santiago, BenjamínBenjamínRodríguez-SantiagoRothman, NathanielNathanielRothmanRuder, Avima MAvima MRuderSavage, Sharon ASharon ASavageSchwartz, Ann GAnn GSchwartzSchwartz, Kendra LKendra LSchwartzSesso, Howard DHoward DSessoSeveri, GianlucaGianlucaSeveriSilverman, Debra TDebra TSilvermanSpitz, Margaret RMargaret RSpitzStevens, Victoria LVictoria LStevensStolzenberg-Solomon, RachaelRachaelStolzenberg-SolomonStram, DanielDanielStramTang, Ze-ZhongZe-ZhongTangTaylor, Philip RPhilip RTaylorTeras, Lauren RLauren RTerasTobias, Geoffrey SGeoffrey STobiasViswanathan, KalaKalaViswanathanWacholder, SholomSholomWacholderWang, ZhaomingZhaomingWangWeinstein, Stephanie JStephanie JWeinsteinWheeler, WilliamWilliamWheelerWhite, EmilyEmilyWhiteWiencke, John KJohn KWienckeWolpin, Brian MBrian MWolpinWu, XifengXifengWuWunder, Jay SJay SWunderYu, KaiKaiYuZanetti, Krista AKrista AZanettiZeleniuch-Jacquotte, AnneAnneZeleniuch-JacquotteZiegler, Regina GRegina GZieglerde Andrade, MarizaMarizade AndradeBarnes, Kathleen CKathleen CBarnesBeaty, Terri HTerri HBeatyBierut, Laura JLaura JBierutDesch, Karl CKarl CDeschDoheny, Kimberly FKimberly FDohenyFeenstra, BjarkeBjarkeFeenstraGinsburg, DavidDavidGinsburgHeit, John AJohn AHeitKang, Jae HJae HKangLaurie, Cecilia ACecilia ALaurieLi, Jun ZJun ZLiLowe, William LWilliam LLoweMarazita, Mary LMary LMarazitaMelbye, MadsMadsMelbyeMirel, Daniel BDaniel BMirelMurray, Jeffrey CJeffrey CMurrayNelson, Sarah CSarah CNelsonPasquale, Louis RLouis RPasqualeRice, KennethKennethRiceWiggs, Janey LJaney LWiggsWise, AnastasiaAnastasiaWiseTucker, MargaretMargaretTuckerPérez-Jurado, Luis ALuis APérez-JuradoLaurie, Cathy CCathy CLaurieCaporaso, Neil ENeil ECaporasoYeager, MeredithMeredithYeagerChanock, Stephen JStephen JChanock2023-01-062023-01-062015-03-050002-9297https://scholars.lib.ntu.edu.tw/handle/123456789/626972Analyses of genome-wide association study (GWAS) data have revealed that detectable genetic mosaicism involving large (>2 Mb) structural autosomal alterations occurs in a fraction of individuals. We present results for a set of 24,849 genotyped individuals (total GWAS set II [TGSII]) in whom 341 large autosomal abnormalities were observed in 168 (0.68%) individuals. Merging data from the new TGSII set with data from two prior reports (the Gene-Environment Association Studies and the total GWAS set I) generated a large dataset of 127,179 individuals; we then conducted a meta-analysis to investigate the patterns of detectable autosomal mosaicism (n = 1,315 events in 925 [0.73%] individuals). Restricting to events >2 Mb in size, we observed an increase in event frequency as event size decreased. The combined results underscore that the rate of detectable mosaicism increases with age (p value = 5.5 × 10(-31)) and is higher in men (p value = 0.002) but lower in participants of African ancestry (p value = 0.003). In a subset of 47 individuals from whom serial samples were collected up to 6 years apart, complex changes were noted over time and showed an overall increase in the proportion of mosaic cells as age increased. Our large combined sample allowed for a unique ability to characterize detectable genetic mosaicism involving large structural events and strengthens the emerging evidence of non-random erosion of the genome in the aging population.enDETECTABLE CLONAL MOSAICISM; COPY-NUMBER-VARIATION; SOMATIC MOSAICISM; MAFFUCCI SYNDROME; OLLIER DISEASE; HUMAN GENOME; MUTATIONS; CANCER; CELLS; IDENTIFICATION[SDGs]SDG3journal article10.1016/j.ajhg.2015.01.011257483582-s2.0-84924140975WOS:000350747800022https://scholars.lib.ntu.edu.tw/handle/123456789/523524