Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome

To investigate large structural clonal mosaicism of chromosome X, we analysed the SNP microarray intensity data of 38,303 women from cancer genome-wide association studies (20,878 cases and 17,425 controls) and detected 124 mosaic X events42Mb in 97 (0.25%) women. Here we show rates for X-chromosome mosaicism are four times higher than mean autosomal rates; X mosaic events more often include the entire chromosome and participants with X events more likely harbour autosomal mosaic events. X mosaicism frequency increases with age (0.11% in 50-year olds; 0.45% in 75-year olds), as reported for Y and autosomes. Methylation array analyses of 33 women with X mosaicism indicate events preferentially involve the inactive X chromosome. Our results provide further evidence that the sex chromosomes undergo mosaic events more frequently than autosomes, which could have implications for understanding the underlying mechanisms of mosaic events and their possible contribution to risk for chronic diseases

Background-independent Measurement Of θ13 In Double Chooz

The oscillation results published by the Double Chooz Collaboration in 2011 and 2012 rely on background models substantiated by reactor-on data. In this analysis, we present a background-model-independent measurement of the mixing angle θ13 by including 7.53 days of reactor-off data. A global fit of the observed antineutrino rates for different reactor power conditions is performed, yielding a measurement of both θ13 and the total background rate. The results on the mixing angle are improved significantly by including the reactor-off data in the fit, as it provides a direct measurement of the total background rate. This reactor rate modulation analysis considers antineutrino candidates with neutron captures on both Gd and H, whose combination yields sin2(2θ13) = 0.102 ± 0.028(stat.) ± 0.033(syst.). The results presented in this study are fully consistent with the ones already published by Double Chooz, achieving a competitive precision. They provide, for the first time, a determination of θ13 that does not depend on a background model. © 2014 The Authors