49 research outputs found
Performance of novel VUV-sensitive Silicon Photo-Multipliers for nEXO
Liquid xenon time projection chambers are promising detectors to search for
neutrinoless double beta decay (0), due to their response
uniformity, monolithic sensitive volume, scalability to large target masses,
and suitability for extremely low background operations. The nEXO collaboration
has designed a tonne-scale time projection chamber that aims to search for
0 of \ce{^{136}Xe} with projected half-life sensitivity of
~yr. To reach this sensitivity, the design goal for nEXO is
1\% energy resolution at the decay -value (~keV).
Reaching this resolution requires the efficient collection of both the
ionization and scintillation produced in the detector. The nEXO design employs
Silicon Photo-Multipliers (SiPMs) to detect the vacuum ultra-violet, 175 nm
scintillation light of liquid xenon. This paper reports on the characterization
of the newest vacuum ultra-violet sensitive Fondazione Bruno Kessler VUVHD3
SiPMs specifically designed for nEXO, as well as new measurements on new test
samples of previously characterised Hamamatsu VUV4 Multi Pixel Photon Counters
(MPPCs). Various SiPM and MPPC parameters, such as dark noise, gain, direct
crosstalk, correlated avalanches and photon detection efficiency were measured
as a function of the applied over voltage and wavelength at liquid xenon
temperature (163~K). The results from this study are used to provide updated
estimates of the achievable energy resolution at the decay -value for the
nEXO design
Pathogenic Germline Variants in 10,389 Adult Cancers
We conducted the largest investigation of predisposition variants in cancer to date, discovering 853 pathogenic or likely pathogenic variants in 8% of 10,389 cases from 33 cancer types. Twenty-one genes showed single or cross-cancer associations, including novel associations of SDHA in melanoma and PALB2 in stomach adenocarcinoma. The 659 predisposition variants and 18 additional large deletions in tumor suppressors, including ATM, BRCA1, and NF1, showed low gene expression and frequent (43%) loss of heterozygosity or biallelic two-hit events. We also discovered 33 such variants in oncogenes, including missenses in MET, RET, and PTPN11 associated with high gene expression. We nominated 47 additional predisposition variants from prioritized VUSs supported by multiple evidences involving case-control frequency, loss of heterozygosity, expression effect, and co-localization with mutations and modified residues. Our integrative approach links rare predisposition variants to functional consequences, informing future guidelines of variant classification and germline genetic testing in cancer. A pan-cancer analysis identifies hundreds of predisposing germline variants