Gamete Donor Selection Based on Genetic Calculations. U.S. Patent 8,543,339

Gamete donor selection includes receiving a specification including a phenotype of interest, receiving a genotype of a recipient and a plurality of genotypes of a respective plurality of donors, determining statistical information pertaining to the phenotype of interest based at least in part on different pairings of the genotype of the recipient and a genotype of a donor in the plurality of donors, and identifying a preferred donor among the plurality of donors, based at least in part on the statistical information determined

Efficient Replication of Over 180 Genetic Associations with Self-Reported Medical Data

While the cost and speed of generating genomic data have come down dramatically in recent years, the slow pace of collecting medical data for large cohorts continues to hamper genetic research. Here we evaluate a novel online framework for amassing large amounts of medical information in a recontactable cohort by assessing our ability to replicate genetic associations using these data. Using web-based questionnaires, we gathered self-reported data on 50 medical phenotypes from a generally unselected cohort of over 20,000 genotyped individuals. Of a list of genetic associations curated by NHGRI, we successfully replicated about 75% of the associations that we expected to (based on the number of cases in our cohort and reported odds ratios, and excluding a set of associations with contradictory published evidence). Altogether we replicated over 180 previously reported associations, including many for type 2 diabetes, prostate cancer, cholesterol levels, and multiple sclerosis. We found significant variation across categories of conditions in the percentage of expected associations that we were able to replicate, which may reflect systematic inflation of the effects in some initial reports, or differences across diseases in the likelihood of misdiagnosis or misreport. We also demonstrated that we could improve replication success by taking advantage of our recontactable cohort, offering more in-depth questions to refine self-reported diagnoses. Our data suggests that online collection of self-reported data in a recontactable cohort may be a viable method for both broad and deep phenotyping in large populations

The Association between Early-life Relative Telomere Length and Childhood Neurodevelopment

Purpose: To examine the association between telomere length and neurodevelopment in children. Methods: We examined the relationship between relative telomere length (rTL) and neurodevelopmental outcomes at 9 and 30 months, and 5 years of age in children enrolled in the Seychelles Child Development Study Nutrition Cohort 1 (NC1). Relative telomere length was measured in cord blood and in child blood at age five. Multivariable linear regression examined associations between neurodevelopmental outcomes and rTL adjusting for relevant covariates. Results: Mean rTL was 1.18 at birth and 0.71 at age five. Increased cord blood rTL was associated with better scores on two neurodevelopmental tests, the psychomotor developmental index (β = 4.01; 95% confidence interval (CI) = 0.17, 7.85) at age 30 months, and the Woodcock Johnson test of achievement letter-word score (β = 2.88; CI = 1.21–4.56) at age five. The Woodcock Johnson test of achievement letter-word score remained statistically significant after two outliers were excluded (β = 2.83; CI = 0.69, 4.97); the psychomotor developmental index did not (β = 3.62; CI = −1.28, 8.52). None of the neurodevelopmental outcomes at age five were associated with five-year rTL. Conclusion: Although increased cord blood rTL was associated with better test scores for a few neurodevelopmental outcomes, this study found little consistent evidence of an association between rTL and neurodevelopment. Future studies with a larger sample size, longer follow-up, and other relevant biological markers (e.g. oxidative stress) are needed to clarify the role of rTL in neurodevelopment and its relevance as a potential surrogate measure for oxidative stress in the field of developmental neurotoxicity

A Compact Beam Stop for a Rare Kaon Decay Experiment

We describe the development and testing of a novel beam stop for use in a rare kaon decay experiment at the Brookhaven AGS. The beam stop is located inside a dipole spectrometer magnet in close proximity to straw drift chambers and intercepts a high-intensity neutral hadron beam. The design process, involving both Monte Carlo simulations and beam tests of alternative beam-stop shielding arrangements, had the goal of minimizing the leakage of particles from the beam stop and the resulting hit rates in detectors, while preserving maximum acceptance for events of interest. The beam tests consisted of measurements of rates in drift chambers, scintilation counter hodoscopes, a gas threshold Cherenkov counter, and a lead glass array. Measurements were also made with a set of specialized detectors which were sensitive to low-energy neutrons, photons, and charged particles. Comparisons are made between these measurements and a detailed Monte Carlo simulation.Comment: 39 pages, 14 figures, submitted to Nuclear Instruments and Method

Recoilless resonant neutrino capture and basics of neutrino oscillations

It is shown that the experiment on recoilless resonant emission and absorption of $\bar \nu_{e}$, proposed recently by Raghavan, could have an important impact on our understanding of the physics of neutrino oscillations.Comment: Additional information in the last chapte

Search for the Weak Decay of an H Dibaryon

We have searched for a neutral $H$ dibaryon decaying via $H\to\Lambda n$ and $H\to\Sigma^0 n$. Our search has yielded two candidate events from which we set an upper limit on the $H$ production cross section. Normalizing to the inclusive $\Lambda$ production cross section, we find $(d\sigma_H/d\Omega) / (d\sigma_\Lambda/d\Omega) < 6.3\times 10^{-6}$ at 90% C.L., for an $H$ of mass $\approx$ 2.15 GeV/$c^2$.Comment: 11 pages, 6 postscript figures, epsfig, aps, preprint, revte

Possible Effects of Quantum Mechanics Violation Induced by Certain Quantum Gravity on Neutrino Oscillations

In this work we tried extensively to apply the EHNS postulation about the quantum mechanics violation effects induced by the quantum gravity of black holes to neutrino oscillations. The possibilities for observing such effects in the neutrino experiments (in progress and/or accessible in the near future) were discussed. Of them, an interesting one was outlined specially.Comment: 18 pages, 0 figure, (1 REVTeX file

Neutrino mass matrix with U(2) flavor symmetry and neutrino oscillations

The three neutrino mass matrices in the $SU(5)\times U(2)$ model are studied focusing on the neutrino oscillation experiments. The atmospheric neutrino anomaly could be explained by the large $\nu_{\mu} - \nu_{\tau}$ oscillation. The long baseline experiments are expected to detect signatures of the neutrino oscillation even if the atmospheric neutrino anomaly is not due to the neutrino oscillation. However, the model cannot solve the solar neutrino deficit while it could be reconciled with the LSND data.Comment: 12 pages, LaTex file, to be published in PR