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- Clark, DW, et al.
(author)
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Associations of autozygosity with a broad range of human phenotypes
- 2019
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In: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10:1, s. 4957-
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Journal article (peer-reviewed)abstract
- In many species, the offspring of related parents suffer reduced reproductive success, a phenomenon known as inbreeding depression. In humans, the importance of this effect has remained unclear, partly because reproduction between close relatives is both rare and frequently associated with confounding social factors. Here, using genomic inbreeding coefficients (FROH) for >1.4 million individuals, we show that FROH is significantly associated (p < 0.0005) with apparently deleterious changes in 32 out of 100 traits analysed. These changes are associated with runs of homozygosity (ROH), but not with common variant homozygosity, suggesting that genetic variants associated with inbreeding depression are predominantly rare. The effect on fertility is striking: FROH equivalent to the offspring of first cousins is associated with a 55% decrease [95% CI 44–66%] in the odds of having children. Finally, the effects of FROH are confirmed within full-sibling pairs, where the variation in FROH is independent of all environmental confounding.
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- Aprile, E., et al.
(author)
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The XENON1T data acquisition system
- 2019
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In: Journal of Instrumentation. - 1748-0221. ; 14
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Journal article (peer-reviewed)abstract
- The XENON1T liquid xenon time projection chamber is the most sensitive detector built to date for the measurement of direct interactions of weakly interacting massive particles with normal matter. The data acquisition system (DAQ) is constructed from commercial, open source, and custom components to digitize signals from the detector and store them for later analysis. The system achieves an extremely low signal threshold by triggering each channel independently, achieving a single photoelectron acceptance of (93 +/- 3)%, and deferring the global trigger to a later, software stage. The event identification is based on MongoDB database queries and has over 98% efficiency at recognizing interactions at the analysis threshold in the center of the target. A readout bandwidth over 300 MB/s is reached in calibration modes and is further expandable via parallelization. This DAQ system was successfully used during three years of operation of XENON1T.
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- Aprile, E., et al.
(author)
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Constraining the Spin-Dependent WIMP-Nucleon Cross Sections with XENON1T
- 2019
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In: Physical Review Letters. - 0031-9007 .- 1079-7114. ; 122:14
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Journal article (peer-reviewed)abstract
- We report the first experimental results on spin-dependent elastic weakly interacting massive particle (WIMP) nucleon scattering from the XENON1T dark matter search experiment. The analysis uses the full ton year exposure of XENON1T to constrain the spin-dependent proton-only and neutron-only cases. No significant signal excess is observed, and a profile likelihood ratio analysis is used to set exclusion limits on the WIMP-nucleon interactions. This includes the most stringent constraint to date on the WIMP-neutron cross section, with a minimum of 6.3 x 10(-42) cm(2) at 30 GeV/c(2) and 90% confidence level. The results are compared with those from collider searches and used to exclude new parameter space in an isoscalar theory with an axial-vector mediator.
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