Please use this identifier to cite or link to this item:
https://hdl.handle.net/2440/121969
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dc.contributor.author | Machiela, M.J. | - |
dc.contributor.author | Zhou, W. | - |
dc.contributor.author | Sampson, J.N. | - |
dc.contributor.author | Dean, M.C. | - |
dc.contributor.author | Jacobs, K.B. | - |
dc.contributor.author | Black, A. | - |
dc.contributor.author | Brinton, L.A. | - |
dc.contributor.author | Chang, I.S. | - |
dc.contributor.author | Chen, C. | - |
dc.contributor.author | Chen, C. | - |
dc.contributor.author | Chen, K. | - |
dc.contributor.author | Cook, L.S. | - |
dc.contributor.author | Crous Bou, M. | - |
dc.contributor.author | De Vivo, I. | - |
dc.contributor.author | Doherty, J. | - |
dc.contributor.author | Friedenreich, C.M. | - |
dc.contributor.author | Gaudet, M.M. | - |
dc.contributor.author | Haiman, C.A. | - |
dc.contributor.author | Hankinson, S.E. | - |
dc.contributor.author | Hartge, P. | - |
dc.contributor.author | et al. | - |
dc.date.issued | 2015 | - |
dc.identifier.citation | American Journal of Human Genetics, 2015; 96(3):487-497 | - |
dc.identifier.issn | 0002-9297 | - |
dc.identifier.issn | 1537-6605 | - |
dc.identifier.uri | http://hdl.handle.net/2440/121969 | - |
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 × 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.description.statementofresponsibility | Mitchell J.Machiela, Weiyin Zhou, Joshua N.Sampson, Michael C.Dean, Kevin B.Jacobs ... Luis A. Perez-Jurado ... et al. | - |
dc.language.iso | en | - |
dc.publisher | Cell Press | - |
dc.rights | Copyright status unknown | - |
dc.source.uri | http://dx.doi.org/10.1016/j.ajhg.2015.01.011 | - |
dc.subject | Genotype | - |
dc.title | Characterization of large structural genetic mosaicism in human autosomes | - |
dc.type | Journal article | - |
dc.identifier.doi | 10.1016/j.ajhg.2015.01.011 | - |
pubs.publication-status | Published | - |
Appears in Collections: | Aurora harvest 8 Medicine publications |
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