Characterization of Large Structural Genetic Mosaicism in Human Autosomes
DC Field | Value | Language |
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dc.contributor.author | Machiela, Mitchell J. | - |
dc.contributor.author | Zhou, Weiyin | - |
dc.contributor.author | Sampson, Joshua N. | - |
dc.contributor.author | Dean, Michael C. | - |
dc.contributor.author | Jacobs, Kevin B. | - |
dc.contributor.author | Black, Amanda | - |
dc.contributor.author | Brinton, Louise A. | - |
dc.contributor.author | Chang, I-Shou | - |
dc.contributor.author | Chen, Chu | - |
dc.contributor.author | Chen, Constance | - |
dc.contributor.author | Chen, Kexin | - |
dc.contributor.author | Cook, Linda S. | - |
dc.contributor.author | Bou, Marta Crous | - |
dc.contributor.author | De Vivo, Immaculata | - |
dc.contributor.author | Doherty, Jennifer | - |
dc.contributor.author | Friedenreich, Christine M. | - |
dc.contributor.author | Gaudet, Mia M. | - |
dc.contributor.author | Haiman, Christopher A. | - |
dc.contributor.author | Hankinson, Susan E. | - |
dc.contributor.author | Hartge, Patricia | - |
dc.contributor.author | Henderson, Brian E. | - |
dc.contributor.author | Hong, Yun-Chul | - |
dc.contributor.author | Hosgood, H. Dean, III | - |
dc.contributor.author | Hsiung, Chao A. | - |
dc.contributor.author | Hu, Wei | - |
dc.contributor.author | Hunter, David J. | - |
dc.contributor.author | Jessop, Lea | - |
dc.contributor.author | Kim, Hee Nam | - |
dc.contributor.author | Kim, Yeul Hong | - |
dc.contributor.author | Kim, Young Tae | - |
dc.contributor.author | Klein, Robert | - |
dc.contributor.author | Kraft, Peter | - |
dc.contributor.author | Lan, Qing | - |
dc.contributor.author | Lin, Dongxin | - |
dc.contributor.author | Liu, Jianjun | - |
dc.contributor.author | Le Marchand, Loic | - |
dc.contributor.author | Liang, Xiaolin | - |
dc.contributor.author | Lissowska, Jolanta | - |
dc.contributor.author | Lu, Lingeng | - |
dc.contributor.author | Magliocco, Anthony M. | - |
dc.contributor.author | Matsuo, Keitaro | - |
dc.contributor.author | Olson, Sara H. | - |
dc.contributor.author | Orlow, Irene | - |
dc.contributor.author | Park, Jae Yong | - |
dc.contributor.author | Pooler, Loreall | - |
dc.contributor.author | Prescott, Jennifer | - |
dc.contributor.author | Rastogi, Radhai | - |
dc.contributor.author | Risch, Harvey A. | - |
dc.contributor.author | Schumacher, Fredrick | - |
dc.contributor.author | Seow, Adeline | - |
dc.contributor.author | Setiawan, Veronica Wendy | - |
dc.contributor.author | Shen, Hongbing | - |
dc.contributor.author | Sheng, Xin | - |
dc.contributor.author | Shin, Min-Ho | - |
dc.contributor.author | Shu, Xiao-Ou | - |
dc.contributor.author | VanDen Berg, David | - |
dc.contributor.author | Wang, Jiu-Cun | - |
dc.contributor.author | Wentzensen, Nicolas | - |
dc.contributor.author | Wong, Maria Pik | - |
dc.contributor.author | Wu, Chen | - |
dc.contributor.author | Wu, Tangchun | - |
dc.contributor.author | Wu, Yi-Long | - |
dc.contributor.author | Xia, Lucy | - |
dc.contributor.author | Yang, Hannah P. | - |
dc.contributor.author | Yang, Pan-Chyr | - |
dc.contributor.author | Zheng, Wei | - |
dc.contributor.author | Zhou, Baosen | - |
dc.contributor.author | Abnet, Christian C. | - |
dc.contributor.author | Albanes, Demetrius | - |
dc.contributor.author | Aldrich, Melinda C. | - |
dc.contributor.author | Amos, Christopher | - |
dc.contributor.author | Amundadottir, Laufey T. | - |
dc.contributor.author | Berndt, Sonja I. | - |
dc.contributor.author | Blot, William J. | - |
dc.contributor.author | Bock, Cathryn H. | - |
dc.contributor.author | Bracci, Paige M. | - |
dc.contributor.author | Burdett, Laurie | - |
dc.contributor.author | Buring, Julie E. | - |
dc.contributor.author | Butler, Mary A. | - |
dc.contributor.author | Carreon, Tania | - |
dc.contributor.author | Chatterjee, Nilanjan | - |
dc.contributor.author | Chung, Charles C. | - |
dc.contributor.author | Cook, Michael B. | - |
dc.contributor.author | Cullen, Michael | - |
dc.contributor.author | Davis, Faith G. | - |
dc.contributor.author | Ding, Ti | - |
dc.contributor.author | Duell, Eric J. | - |
dc.contributor.author | Epstein, Caroline G. | - |
dc.contributor.author | Fan, Jin-Hu | - |
dc.contributor.author | Figueroa, Jonine D. | - |
dc.contributor.author | Fraumeni, Joseph F., Jr. | - |
dc.contributor.author | Freedman, Neal D. | - |
dc.contributor.author | Fuchs, Charles S. | - |
dc.contributor.author | Gao, Yu-Tang | - |
dc.contributor.author | Gapstur, Susan M. | - |
dc.contributor.author | Patino-Garcia, Ana | - |
dc.contributor.author | Garcia-Closas, Montserrat | - |
dc.contributor.author | Gaziano, J. Michael | - |
dc.contributor.author | Giles, Graham G. | - |
dc.contributor.author | Gillanders, Elizabeth M. | - |
dc.contributor.author | Giovannucci, Edward L. | - |
dc.contributor.author | Goldin, Lynn | - |
dc.contributor.author | Goldstein, Alisa M. | - |
dc.contributor.author | Greene, Mark H. | - |
dc.contributor.author | Hallmans, Goran | - |
dc.contributor.author | Harris, Curtis C. | - |
dc.contributor.author | Henriksson, Roger | - |
dc.contributor.author | Holly, Elizabeth A. | - |
dc.contributor.author | Hoover, Robert N. | - |
dc.contributor.author | Hu, Nan | - |
dc.contributor.author | Hutchinson, Amy | - |
dc.contributor.author | Jenab, Mazda | - |
dc.contributor.author | Johansen, Christoffer | - |
dc.contributor.author | Khaw, Kay-Tee | - |
dc.contributor.author | Koh, Woon-Puay | - |
dc.contributor.author | Kolonel, Laurence N. | - |
dc.contributor.author | Kooperberg, Charles | - |
dc.contributor.author | Krogh, Vittorio | - |
dc.contributor.author | Kurtz, Robert C. | - |
dc.contributor.author | LaCroix, Andrea | - |
dc.contributor.author | Landgren, Annelie | - |
dc.contributor.author | Landi, Maria Teresa | - |
dc.contributor.author | Li, Donghui | - |
dc.contributor.author | Liao, Linda M. | - |
dc.contributor.author | Malats, Nuria | - |
dc.contributor.author | McGlynn, Katherine A. | - |
dc.contributor.author | McNeill, Lorna H. | - |
dc.contributor.author | McWilliams, Robert R. | - |
dc.contributor.author | Melin, Beatrice S. | - |
dc.contributor.author | Mirabello, Lisa | - |
dc.contributor.author | Peplonska, Beata | - |
dc.contributor.author | Peters, Ulrike | - |
dc.contributor.author | Petersen, Gloria M. | - |
dc.contributor.author | Prokunina-Olsson, Ludmila | - |
dc.contributor.author | Purdue, Mark | - |
dc.contributor.author | Qiao, You-Lin | - |
dc.contributor.author | Rabe, Kari G. | - |
dc.contributor.author | Rajaraman, Preetha | - |
dc.contributor.author | Real, Francisco X. | - |
dc.contributor.author | Riboli, Elio | - |
dc.contributor.author | Rodriguez-Santiago, Benjamin | - |
dc.contributor.author | Rothman, Nathaniel | - |
dc.contributor.author | Ruder, Avima M. | - |
dc.contributor.author | Savage, Sharon A. | - |
dc.contributor.author | Schwartz, Ann G. | - |
dc.contributor.author | Schwartz, Kendra L. | - |
dc.contributor.author | Sesso, Howard D. | - |
dc.contributor.author | Severi, Gianluca | - |
dc.contributor.author | Silverman, Debra T. | - |
dc.contributor.author | Spitz, Margaret R. | - |
dc.contributor.author | Stevens, Victoria L. | - |
dc.contributor.author | Stolzenberg-Solomon, Rachael | - |
dc.contributor.author | Stram, Daniel | - |
dc.contributor.author | Tang, Ze-Zhong | - |
dc.contributor.author | Taylor, Philip R. | - |
dc.contributor.author | Teras, Lauren R. | - |
dc.contributor.author | Tobias, Geoffrey S. | - |
dc.contributor.author | Viswanathan, Kala | - |
dc.contributor.author | Wacholder, Sholom | - |
dc.contributor.author | Wang, Zhaoming | - |
dc.contributor.author | Weinstein, Stephanie J. | - |
dc.contributor.author | Wheeler, William | - |
dc.contributor.author | White, Emily | - |
dc.contributor.author | Wiencke, John K. | - |
dc.contributor.author | Wolpin, Brian M. | - |
dc.contributor.author | Wu, Xifeng | - |
dc.contributor.author | Wunder, Jay S. | - |
dc.contributor.author | Yu, Kai | - |
dc.contributor.author | Zanetti, Krista A. | - |
dc.contributor.author | Zeleniuch-Jacquotte, Anne | - |
dc.contributor.author | Ziegler, Regina G. | - |
dc.contributor.author | De Andrade, Mariza | - |
dc.contributor.author | Barnes, Kathleen C. | - |
dc.contributor.author | Beaty, Terri H. | - |
dc.contributor.author | Bierut, Laura J. | - |
dc.contributor.author | Desch, Karl C. | - |
dc.contributor.author | Doheny, Kimberly F. | - |
dc.contributor.author | Feenstra, Bjarke | - |
dc.contributor.author | Ginsburg, David | - |
dc.contributor.author | Heit, John A. | - |
dc.contributor.author | Kang, Jae H. | - |
dc.contributor.author | Laurie, Cecilia A. | - |
dc.contributor.author | Li, Jun Z. | - |
dc.contributor.author | Lowe, William L. | - |
dc.contributor.author | Marazita, Mary L. | - |
dc.contributor.author | Melbye, Mads | - |
dc.contributor.author | Mirel, Daniel B. | - |
dc.contributor.author | Murray, Jeffrey C. | - |
dc.contributor.author | Nelson, Sarah C. | - |
dc.contributor.author | Pasquale, Louis R. | - |
dc.contributor.author | Rice, Kenneth | - |
dc.contributor.author | Wiggs, Janey L. | - |
dc.contributor.author | Wise, Anastasia | - |
dc.contributor.author | Tucker, Margaret | - |
dc.contributor.author | Perez-Jurado, Luis A. | - |
dc.contributor.author | Laurie, Cathy C. | - |
dc.contributor.author | Caporaso, Neil E. | - |
dc.contributor.author | Yeager, Meredith | - |
dc.contributor.author | Chanock, Stephen J. | - |
dc.date.accessioned | 2021-09-04T18:20:36Z | - |
dc.date.available | 2021-09-04T18:20:36Z | - |
dc.date.created | 2021-06-15 | - |
dc.date.issued | 2015-03-05 | - |
dc.identifier.issn | 0002-9297 | - |
dc.identifier.uri | https://scholar.korea.ac.kr/handle/2021.sw.korea/94150 | - |
dc.description.abstract | Analyses 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 x 3 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. | - |
dc.language | English | - |
dc.language.iso | en | - |
dc.publisher | CELL PRESS | - |
dc.subject | DETECTABLE CLONAL MOSAICISM | - |
dc.subject | COPY-NUMBER-VARIATION | - |
dc.subject | SOMATIC MOSAICISM | - |
dc.subject | MAFFUCCI SYNDROME | - |
dc.subject | OLLIER DISEASE | - |
dc.subject | HUMAN GENOME | - |
dc.subject | MUTATIONS | - |
dc.subject | CANCER | - |
dc.subject | CELLS | - |
dc.subject | IDENTIFICATION | - |
dc.title | Characterization of Large Structural Genetic Mosaicism in Human Autosomes | - |
dc.type | Article | - |
dc.contributor.affiliatedAuthor | Kim, Yeul Hong | - |
dc.identifier.doi | 10.1016/j.ajhg.2015.01.011 | - |
dc.identifier.scopusid | 2-s2.0-84924140975 | - |
dc.identifier.wosid | 000350747800022 | - |
dc.identifier.bibliographicCitation | AMERICAN JOURNAL OF HUMAN GENETICS, v.96, no.3, pp.487 - 497 | - |
dc.relation.isPartOf | AMERICAN JOURNAL OF HUMAN GENETICS | - |
dc.citation.title | AMERICAN JOURNAL OF HUMAN GENETICS | - |
dc.citation.volume | 96 | - |
dc.citation.number | 3 | - |
dc.citation.startPage | 487 | - |
dc.citation.endPage | 497 | - |
dc.type.rims | ART | - |
dc.type.docType | Article | - |
dc.description.journalClass | 1 | - |
dc.description.journalRegisteredClass | scie | - |
dc.description.journalRegisteredClass | scopus | - |
dc.relation.journalResearchArea | Genetics & Heredity | - |
dc.relation.journalWebOfScienceCategory | Genetics & Heredity | - |
dc.subject.keywordPlus | DETECTABLE CLONAL MOSAICISM | - |
dc.subject.keywordPlus | COPY-NUMBER-VARIATION | - |
dc.subject.keywordPlus | SOMATIC MOSAICISM | - |
dc.subject.keywordPlus | MAFFUCCI SYNDROME | - |
dc.subject.keywordPlus | OLLIER DISEASE | - |
dc.subject.keywordPlus | HUMAN GENOME | - |
dc.subject.keywordPlus | MUTATIONS | - |
dc.subject.keywordPlus | CANCER | - |
dc.subject.keywordPlus | CELLS | - |
dc.subject.keywordPlus | IDENTIFICATION | - |
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