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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 10430naa a2202665 4500 | |
| 001 | oai:DiVA.org:umu-102455 | |
| 003 | SwePub | |
| 008 | 150426s2015 | |||||||||||000 ||eng| | |
| 024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-1024552 URI |
| 024 | 7 | a https://doi.org/10.1016/j.ajhg.2015.01.0112 DOI |
| 040 | a (SwePub)umu | |
| 041 | a engb eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a ref2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a Machiela, Mitchell J.4 aut |
| 245 | 1 0 | a Characterization of Large Structural Genetic Mosaicism in Human Autosomes |
| 264 | 1 | b Elsevier BV,c 2015 |
| 338 | a print2 rdacarrier | |
| 520 | a 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. | |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng |
| 700 | 1 | a Zhou, Weiyin4 aut |
| 700 | 1 | a Sampson, Joshua N.4 aut |
| 700 | 1 | a Dean, Michael C.4 aut |
| 700 | 1 | a Jacobs, Kevin B.4 aut |
| 700 | 1 | a Black, Amanda4 aut |
| 700 | 1 | a Brinton, Louise A.4 aut |
| 700 | 1 | a Chang, I-Shou4 aut |
| 700 | 1 | a Chen, Chu4 aut |
| 700 | 1 | a Chen, Constance4 aut |
| 700 | 1 | a Chen, Kexin4 aut |
| 700 | 1 | a Cook, Linda S.4 aut |
| 700 | 1 | a Bou, Marta Crous4 aut |
| 700 | 1 | a De Vivo, Immaculata4 aut |
| 700 | 1 | a Doherty, Jennifer4 aut |
| 700 | 1 | a Friedenreich, Christine M.4 aut |
| 700 | 1 | a Gaudet, Mia M.4 aut |
| 700 | 1 | a Haiman, Christopher A.4 aut |
| 700 | 1 | a Hankinson, Susan E.4 aut |
| 700 | 1 | a Hartge, Patricia4 aut |
| 700 | 1 | a Henderson, Brian E.4 aut |
| 700 | 1 | a Hong, Yun-Chul4 aut |
| 700 | 1 | a Hosgood, H. Dean, III4 aut |
| 700 | 1 | a Hsiung, Chao A.4 aut |
| 700 | 1 | a Hu, Wei4 aut |
| 700 | 1 | a Hunter, David J.4 aut |
| 700 | 1 | a Jessop, Lea4 aut |
| 700 | 1 | a Kim, Hee Nam4 aut |
| 700 | 1 | a Kim, Yeul Hong4 aut |
| 700 | 1 | a Kim, Young Tae4 aut |
| 700 | 1 | a Klein, Robert4 aut |
| 700 | 1 | a Kraft, Peter4 aut |
| 700 | 1 | a Lan, Qing4 aut |
| 700 | 1 | a Lin, Dongxin4 aut |
| 700 | 1 | a Liu, Jianjun4 aut |
| 700 | 1 | a Le Marchand, Loic4 aut |
| 700 | 1 | a Liang, Xiaolin4 aut |
| 700 | 1 | a Lissowska, Jolanta4 aut |
| 700 | 1 | a Lu, Lingeng4 aut |
| 700 | 1 | a Magliocco, Anthony M.4 aut |
| 700 | 1 | a Matsuo, Keitaro4 aut |
| 700 | 1 | a Olson, Sara H.4 aut |
| 700 | 1 | a Orlow, Irene4 aut |
| 700 | 1 | a Park, Jae Yong4 aut |
| 700 | 1 | a Pooler, Loreall4 aut |
| 700 | 1 | a Prescott, Jennifer4 aut |
| 700 | 1 | a Rastogi, Radhai4 aut |
| 700 | 1 | a Risch, Harvey A.4 aut |
| 700 | 1 | a Schumacher, Fredrick4 aut |
| 700 | 1 | a Seow, Adeline4 aut |
| 700 | 1 | a Setiawan, Veronica Wendy4 aut |
| 700 | 1 | a Shen, Hongbing4 aut |
| 700 | 1 | a Sheng, Xin4 aut |
| 700 | 1 | a Shin, Min-Ho4 aut |
| 700 | 1 | a Shu, Xiao-Ou4 aut |
| 700 | 1 | a VanDen Berg, David4 aut |
| 700 | 1 | a Wang, Jiu-Cun4 aut |
| 700 | 1 | a Wentzensen, Nicolas4 aut |
| 700 | 1 | a Wong, Maria Pik4 aut |
| 700 | 1 | a Wu, Chen4 aut |
| 700 | 1 | a Wu, Tangchun4 aut |
| 700 | 1 | a Wu, Yi-Long4 aut |
| 700 | 1 | a Xia, Lucy4 aut |
| 700 | 1 | a Yang, Hannah P.4 aut |
| 700 | 1 | a Yang, Pan-Chyr4 aut |
| 700 | 1 | a Zheng, Wei4 aut |
| 700 | 1 | a Zhou, Baosen4 aut |
| 700 | 1 | a Abnet, Christian C.4 aut |
| 700 | 1 | a Albanes, Demetrius4 aut |
| 700 | 1 | a Aldrich, Melinda C.4 aut |
| 700 | 1 | a Amos, Christopher4 aut |
| 700 | 1 | a Amundadottir, Laufey T.4 aut |
| 700 | 1 | a Berndt, Sonja I.4 aut |
| 700 | 1 | a Blot, William J.4 aut |
| 700 | 1 | a Bock, Cathryn H.4 aut |
| 700 | 1 | a Bracci, Paige M.4 aut |
| 700 | 1 | a Burdett, Laurie4 aut |
| 700 | 1 | a Buring, Julie E.4 aut |
| 700 | 1 | a Butler, Mary A.4 aut |
| 700 | 1 | a Carreon, Tania4 aut |
| 700 | 1 | a Chatterjee, Nilanjan4 aut |
| 700 | 1 | a Chung, Charles C.4 aut |
| 700 | 1 | a Cook, Michael B.4 aut |
| 700 | 1 | a Cullen, Michael4 aut |
| 700 | 1 | a Davis, Faith G.4 aut |
| 700 | 1 | a Ding, Ti4 aut |
| 700 | 1 | a Duell, Eric J.4 aut |
| 700 | 1 | a Epstein, Caroline G.4 aut |
| 700 | 1 | a Fan, Jin-Hu4 aut |
| 700 | 1 | a Figueroa, Jonine D.4 aut |
| 700 | 1 | a Fraumeni, Joseph F., Jr.4 aut |
| 700 | 1 | a Freedman, Neal D.4 aut |
| 700 | 1 | a Fuchs, Charles S.4 aut |
| 700 | 1 | a Gao, Yu-Tang4 aut |
| 700 | 1 | a Gapstur, Susan M.4 aut |
| 700 | 1 | a Patino-Garcia, Ana4 aut |
| 700 | 1 | a Garcia-Closas, Montserrat4 aut |
| 700 | 1 | a Gaziano, J. Michael4 aut |
| 700 | 1 | a Giles, Graham G.4 aut |
| 700 | 1 | a Gillanders, Elizabeth M.4 aut |
| 700 | 1 | a Giovannucci, Edward L.4 aut |
| 700 | 1 | a Goldin, Lynn4 aut |
| 700 | 1 | a Goldstein, Alisa M.4 aut |
| 700 | 1 | a Greene, Mark H.4 aut |
| 700 | 1 | a Hallmans, Göranu Umeå universitet,Enheten för biobanksforskning,Näringsforskning4 aut |
| 700 | 1 | a Harris, Curtis C.4 aut |
| 700 | 1 | a Henriksson, Rogeru Umeå universitet,Onkologi4 aut0 (Swepub:umu)rohe0003 |
| 700 | 1 | a Holly, Elizabeth A.4 aut |
| 700 | 1 | a Hoover, Robert N.4 aut |
| 700 | 1 | a Hu, Nan4 aut |
| 700 | 1 | a Hutchinson, Amy4 aut |
| 700 | 1 | a Jenab, Mazda4 aut |
| 700 | 1 | a Johansen, Christoffer4 aut |
| 700 | 1 | a Khaw, Kay-Tee4 aut |
| 700 | 1 | a Koh, Woon-Puay4 aut |
| 700 | 1 | a Kolonel, Laurence N.4 aut |
| 700 | 1 | a Kooperberg, Charles4 aut |
| 700 | 1 | a Krogh, Vittorio4 aut |
| 700 | 1 | a Kurtz, Robert C.4 aut |
| 700 | 1 | a LaCroix, Andrea4 aut |
| 700 | 1 | a Landgren, Annelie4 aut |
| 700 | 1 | a Landi, Maria Teresa4 aut |
| 700 | 1 | a Li, Donghui4 aut |
| 700 | 1 | a Liao, Linda M.4 aut |
| 700 | 1 | a Malats, Nuria4 aut |
| 700 | 1 | a McGlynn, Katherine A.4 aut |
| 700 | 1 | a McNeill, Lorna H.4 aut |
| 700 | 1 | a McWilliams, Robert R.4 aut |
| 700 | 1 | a Melin, Beatrice S.4 aut |
| 700 | 1 | a Mirabello, Lisa4 aut |
| 700 | 1 | a Peplonska, Beata4 aut |
| 700 | 1 | a Peters, Ulrike4 aut |
| 700 | 1 | a Petersen, Gloria M.4 aut |
| 700 | 1 | a Prokunina-Olsson, Ludmila4 aut |
| 700 | 1 | a Purdue, Mark4 aut |
| 700 | 1 | a Qiao, You-Lin4 aut |
| 700 | 1 | a Rabe, Kari G.4 aut |
| 700 | 1 | a Rajaraman, Preetha4 aut |
| 700 | 1 | a Real, Francisco X.4 aut |
| 700 | 1 | a Riboli, Elio4 aut |
| 700 | 1 | a Rodriguez-Santiago, Benjamin4 aut |
| 700 | 1 | a Rothman, Nathaniel4 aut |
| 700 | 1 | a Ruder, Avima M.4 aut |
| 700 | 1 | a Savage, Sharon A.4 aut |
| 700 | 1 | a Schwartz, Ann G.4 aut |
| 700 | 1 | a Schwartz, Kendra L.4 aut |
| 700 | 1 | a Sesso, Howard D.4 aut |
| 700 | 1 | a Severi, Gianluca4 aut |
| 700 | 1 | a Silverman, Debra T.4 aut |
| 700 | 1 | a Spitz, Margaret R.4 aut |
| 700 | 1 | a Stevens, Victoria L.4 aut |
| 700 | 1 | a Stolzenberg-Solomon, Rachael4 aut |
| 700 | 1 | a Stram, Daniel4 aut |
| 700 | 1 | a Tang, Ze-Zhong4 aut |
| 700 | 1 | a Taylor, Philip R.4 aut |
| 700 | 1 | a Teras, Lauren R.4 aut |
| 700 | 1 | a Tobias, Geoffrey S.4 aut |
| 700 | 1 | a Viswanathan, Kala4 aut |
| 700 | 1 | a Wacholder, Sholom4 aut |
| 700 | 1 | a Wang, Zhaoming4 aut |
| 700 | 1 | a Weinstein, Stephanie J.4 aut |
| 700 | 1 | a Wheeler, William4 aut |
| 700 | 1 | a White, Emily4 aut |
| 700 | 1 | a Wiencke, John K.4 aut |
| 700 | 1 | a Wolpin, Brian M.4 aut |
| 700 | 1 | a Wu, Xifeng4 aut |
| 700 | 1 | a Wunder, Jay S.4 aut |
| 700 | 1 | a Yu, Kai4 aut |
| 700 | 1 | a Zanetti, Krista A.4 aut |
| 700 | 1 | a Zeleniuch-Jacquotte, Anneu Umeå universitet,Enheten för biobanksforskning4 aut |
| 700 | 1 | a Ziegler, Regina G.4 aut |
| 700 | 1 | a De Andrade, Mariza4 aut |
| 700 | 1 | a Barnes, Kathleen C.4 aut |
| 700 | 1 | a Beaty, Terri H.4 aut |
| 700 | 1 | a Bierut, Laura J.4 aut |
| 700 | 1 | a Desch, Karl C.4 aut |
| 700 | 1 | a Doheny, Kimberly F.4 aut |
| 700 | 1 | a Feenstra, Bjarke4 aut |
| 700 | 1 | a Ginsburg, David4 aut |
| 700 | 1 | a Heit, John A.4 aut |
| 700 | 1 | a Kang, Jae H.4 aut |
| 700 | 1 | a Laurie, Cecilia A.4 aut |
| 700 | 1 | a Li, Jun Z.4 aut |
| 700 | 1 | a Lowe, William L.4 aut |
| 700 | 1 | a Marazita, Mary L.4 aut |
| 700 | 1 | a Melbye, Mads4 aut |
| 700 | 1 | a Mirel, Daniel B.4 aut |
| 700 | 1 | a Murray, Jeffrey C.4 aut |
| 700 | 1 | a Nelson, Sarah C.4 aut |
| 700 | 1 | a Pasquale, Louis R.4 aut |
| 700 | 1 | a Rice, Kenneth4 aut |
| 700 | 1 | a Wiggs, Janey L.4 aut |
| 700 | 1 | a Wise, Anastasia4 aut |
| 700 | 1 | a Tucker, Margaret4 aut |
| 700 | 1 | a Perez-Jurado, Luis A.4 aut |
| 700 | 1 | a Laurie, Cathy C.4 aut |
| 700 | 1 | a Caporaso, Neil E.4 aut |
| 700 | 1 | a Yeager, Meredith4 aut |
| 700 | 1 | a Chanock, Stephen J.4 aut |
| 710 | 2 | a Umeå universitetb Enheten för biobanksforskning4 org |
| 773 | 0 | t American Journal of Human Geneticsd : Elsevier BVg 96:3, s. 487-497q 96:3<487-497x 0002-9297x 1537-6605 |
| 856 | 4 | u http://www.cell.com/article/S0002929715000191/pdf |
| 856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-102455 |
| 856 | 4 8 | u https://doi.org/10.1016/j.ajhg.2015.01.011 |
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