41 research outputs found
TITUS: the Tokai Intermediate Tank for the Unoscillated Spectrum
68 pages.38 figures68 pages.38 figures68 pages.38 figures70 pages, 41 figuresThe TITUS, Tokai Intermediate Tank for Unoscillated Spectrum, detector, is a proposed Gd-doped Water Cherenkov tank with a magnetised muon range detector downstream. It is located at J-PARC at about 2 km from the neutrino target and it is proposed as a potential near detector for the Hyper-Kamiokande experiment. Assuming a beam power of 1.3 MW and 27.05 x 10^{21} protons-on-target the sensitivity to CP and mixing parameters achieved by Hyper-Kamiokande with TITUS as a near detector is presented. Also, the potential of the detector for cross sections and Standard Model parameter determination, supernova neutrino and dark matter are shown
Common Genetic Variants near the Brittle Cornea Syndrome Locus ZNF469 Influence the Blinding Disease Risk Factor Central Corneal Thickness
Central corneal thickness (CCT), one of the most highly heritable human traits (h2 typically>0.9), is important for the diagnosis of glaucoma and a potential risk factor for glaucoma susceptibility. We conducted genome-wide association studies in five cohorts from Australia and the United Kingdom (total N = 5058). Three cohorts were based on individually genotyped twin collections, with the remaining two cohorts genotyped on pooled samples from singletons with extreme trait values. The pooled sample findings were validated by individual genotyping the pooled samples together with additional samples also within extreme quantiles. We describe methods for efficient combined analysis of the results from these different study designs. We have identified and replicated quantitative trait loci on chromosomes 13 and 16 for association with CCT. The locus on chromosome 13 (nearest gene FOXO1) had an overall meta-analysis p-value for all the individually genotyped samples of 4.6×10−10. The locus on chromosome 16 was associated with CCT with p = 8.95×10−11. The nearest gene to the associated chromosome 16 SNPs was ZNF469, a locus recently implicated in Brittle Cornea Syndrome (BCS), a very rare disorder characterized by abnormal thin corneas. Our findings suggest that in addition to rare variants in ZNF469 underlying CCT variation in BCS patients, more common variants near this gene may contribute to CCT variation in the general population
High energy neutrino astronomy using upward-going muons in Super-Kamiokande-I
We present the results from several studies used to search for astrophysical
sources of high-energy neutrinos using the Super-Kamiokande-I (April 1996 to
July 2001) neutrino-induced upward-going muon data. The data set consists of
2359 events with minimum energy 1.6 GeV, of which 1892 are through-going and
467 stop within the detector. The results of several independent analyses are
presented, including searches for point sources using directional and temporal
information and a search for signatures of cosmic-ray interactions with the
interstellar medium in the upward-going muons. No statistically significant
evidence for point sources or any diffuse flux from the plane of the galaxy was
found, so specific limits on fluxes from likely point sources are calculated.
The 90% C.L. upper limits on upward-going muon flux from astronomical sources
which are located in the southern hemisphere and always under the horizon for
Super-Kamiokande are 1~4x10^{-15} cm^{-2} s^{-1}.Comment: 8 pages, 6 figures, submitted to ApJ v2 clarifies angular cone sizes
used in response to referee comments. Please send comments, clarifications,
etc. to Alec Habig ([email protected]
IMI - Myopia Genetics Report
The knowledge on the genetic background of refractive error and myopia has expanded
dramatically in the past few years. This white paper aims to provide a concise summary of
current genetic findings and defines the direction where development is needed.
We performed an extensive literature search and conducted informal discussions with key
stakeholders. Specific topics reviewed included common refractive error, any and high
myopia, and myopia related to syndromes.
To date, almost 200 genetic loci have been identified for refractive error and myopia, and risk
variants mostly carry low risk but are highly prevalent in the general population. Several
genes for secondary syndromic myopia overlap with those for common myopia. Polygenic
risk scores show overrepresentation of high myopia in the higher deciles of risk. Annotated
genes have a wide variety of functions, and all retinal layers appear to be sites of expression.
The current genetic findings offer a world of new molecules involved in myopiagenesis. As
the missing heritability is still large, further genetic advances are needed. This Committee
recommends expanding large-scale, in-depth genetic studies using complementary big data
analytics, consideration of gene-environment effects by thorough measurement of environmental exposures, and focus on subgroups with extreme phenotypes and high familial
occurrence. Functional characterization of associated variants is simultaneously needed to
bridge the knowledge gap between sequence variance and consequence for eye growth
Hyper-Kamiokande Design Report
325 pages325 pagesOn the strength of a double Nobel prize winning experiment (Super)Kamiokande and an extremely successful long baseline neutrino programme, the third generation Water Cherenkov detector, Hyper-Kamiokande, is being developed by an international collaboration as a leading worldwide experiment based in Japan. The Hyper-Kamiokande detector will be hosted in the Tochibora mine, about 295 km away from the J-PARC proton accelerator research complex in Tokai, Japan. The currently existing accelerator will be steadily upgraded to reach a MW beam by the start of the experiment. A suite of near detectors will be vital to constrain the beam for neutrino oscillation measurements. A new cavern will be excavated at the Tochibora mine to host the detector. The experiment will be the largest underground water Cherenkov detector in the world and will be instrumented with new technology photosensors, faster and with higher quantum efficiency than the ones in Super-Kamiokande. The science that will be developed will be able to shape the future theoretical framework and generations of experiments. Hyper-Kamiokande will be able to measure with the highest precision the leptonic CP violation that could explain the baryon asymmetry in the Universe. The experiment also has a demonstrated excellent capability to search for proton decay, providing a significant improvement in discovery sensitivity over current searches for the proton lifetime. The atmospheric neutrinos will allow to determine the neutrino mass ordering and, together with the beam, able to precisely test the three-flavour neutrino oscillation paradigm and search for new phenomena. A strong astrophysical programme will be carried out at the experiment that will detect supernova neutrinos and will measure precisely solar neutrino oscillation
Childhood gene-environment interactions and age-dependent effects of genetic variants associated with refractive error and myopia : The CREAM Consortium
Myopia, currently at epidemic levels in East Asia, is a leading cause of untreatable visual impairment. Genome-wide association studies (GWAS) in adults have identified 39 loci associated with refractive error and myopia. Here, the age-of-onset of association between genetic variants at these 39 loci and refractive error was investigated in 5200 children assessed longitudinally across ages 7-15 years, along with gene-environment interactions involving the major environmental risk-factors, nearwork and time outdoors. Specific variants could be categorized as showing evidence of: (a) early-onset effects remaining stable through childhood, (b) early-onset effects that progressed further with increasing age, or (c) onset later in childhood (N = 10, 5 and 11 variants, respectively). A genetic risk score (GRS) for all 39 variants explained 0.6% (P = 6.6E-08) and 2.3% (P = 6.9E-21) of the variance in refractive error at ages 7 and 15, respectively, supporting increased effects from these genetic variants at older ages. Replication in multi-ancestry samples (combined N = 5599) yielded evidence of childhood onset for 6 of 12 variants present in both Asians and Europeans. There was no indication that variant or GRS effects altered depending on time outdoors, however 5 variants showed nominal evidence of interactions with nearwork (top variant, rs7829127 in ZMAT4; P = 6.3E-04).Peer reviewe
Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium
Myopia is a complex genetic disorder and a common cause of visual impairment among working age adults. Genome-wide association studies have identified susceptibility loci on chromosomes 15q14 and 15q25 in Caucasian populations of European ancestry. Here, we present a confirmation and meta-analysis study in which we assessed whether these two loci are also associated with myopia in other populations. The study population comprised 31 cohorts from the Consortium of Refractive Error and Myopia (CREAM) representing 4 different continents with 55,177 individuals; 42,845 Caucasians and 12,332 Asians. We performed a meta-analysis of 14 single nucleotide polymorphisms (SNPs) on 15q14 and 5 SNPs on 15q25 using linear regression analysis with spherical equivalent as a quantitative outcome, adjusted for age and sex. We calculated the odds ratio (OR) of myopia versus hyperopia for carriers of the top-SNP alleles using a fixed effects meta-analysis. At locus 15q14, all SNPs were significantly replicated, with the lowest P value 3.87 × 10 -12 for SNP rs634990 in Caucasians, and 9.65 × 10 -4 for rs8032019 in Asians. The overall meta-analysis provided P value 9.20 × 10 -23 for the top SNP rs634990. The risk of myopia versus hyperopia was OR 1.88 (95 % CI 1.64, 2.16, P < 0.001) for homozygous carriers of the risk allele at the top SNP rs634990, and OR 1.33 (95 % CI 1.19, 1.49, P < 0.001) for heterozygous carriers. SNPs at locus 15q25 did not replicate significantly (P value 5.81 × 10 -2 for top SNP rs939661). We conclude that common variants at chromosome 15q14 influence susceptibility for myopia in Caucasian and Asian populations world-wide. © The Author(s) 2012
Physics Potentials with the Second Hyper-Kamiokande Detector in Korea
We have conducted sensitivity studies on an alternative configuration of the Hyper-Kamiokande experiment by locating the 2nd Hyper-Kamiokande detector in Korea at 11001300 km baseline. Having two detectors at different baselines improves sensitivity to leptonic CP violation, neutrino mass ordering as well as nonstandard neutrino interactions. There are several candidate sites in Korea with greater than 1 km high mountains ranged at an 13 degree off-axis angle. Thanks to larger overburden of the candidate sites in Korea, low energy physics, such as solar and supernova neutrino physics as well as dark matter search, is expected to be improved. In this paper sensitivity studies on the CP violation phase and neutrino mass ordering are performed using current T2K systematic uncertainties in most cases. We plan to improve our sensitivity studies in the near future with better estimation of our systematic uncertainties
TITUS: the Tokai Intermediate Tank for the Unoscillated Spectrum
The TITUS, Tokai Intermediate Tank for Unoscillated Spectrum, detector, is a proposed Gd-doped Water Cherenkov tank with a magnetised muon range detector downstream. It is located at J-PARC at about 2 km from the neutrino target and it is proposed as a potential near detector for the Hyper-Kamiokande experiment. Assuming a beam power of 1.3 MW and 27.05 x 10^{21} protons-on-target the sensitivity to CP and mixing parameters achieved by Hyper-Kamiokande with TITUS as a near detector is presented. Also, the potential of the detector for cross sections and Standard Model parameter determination, supernova neutrino and dark matter are shown
Physics potentials with the second Hyper-Kamiokande detector in Korea
Hyper-Kamiokande consists of two identical water-Cherenkov detectors of total 520 kt, with the first one in Japan at 295 km from the J-PARC neutrino beam with 2.5 degrees off-axis angles (OAAs), and the second one possibly in Korea at a later stage. Having the second detector in Korea would benefit almost all areas of neutrino oscillation physics, mainly due to longer baselines. There are several candidate sites in Korea with baselines of 1000-1300 km and OAAs of 1 degrees-3 degrees. We conducted sensitivity studies on neutrino oscillation physics for a second detector, either in Japan (JD x 2) or Korea (JD + KD), and compared the results with a single detector in Japan. Leptonic charge-parity (CP) symmetry violation sensitivity is improved, especially when the CP is non-maximally violated. The larger matter effect at Korean candidate sites significantly enhances sensitivities to non-standard interactions of neutrinos and mass ordering determination. Current studies indicate the best sensitivity is obtained at Mt. Bisul (1088 km baseline, 1.3 degrees OAA). Thanks to a larger (1000 m) overburden than the first detector site, clear improvements to sensitivities for solar and supernova relic neutrino searches are expected