Clinical exome performance for reporting secondary genetic findings.

BACKGROUND : Reporting clinically actionable incidental genetic findings in the course of clinical exome testing is recommended by the American College of Medical Genet- ics and Genomics (ACMG). However, the performance of clinical exome methods for reporting small subsets of genes has not been previously reported. METHODS : In this study, 57 exome data sets performed as clinical (n ! 12) or research (n ! 45) tests were retrospec- tively analyzed. Exome sequencing data was examined for adequacy in the detection of potentially pathogenic variant locations in the 56 genes described in the ACMG incidental findings recommendation. All exons of the 56 genes were examined for adequacy of sequencing coverage. In addition, nucleotide positions annotated in HGMD (Human Gene Mutation Database) were examined. RESULTS : The 56 ACMG genes have 18336 nucleotide variants annotated in HGMD. None of the 57 exome data sets possessed a HGMD variant. The clinical exome test had inadequate coverage for " 50% of HGMD vari- ant locations in 7 genes. Six exons from 6 different genes had consistent failure across all 3 test methods; these exons had high GC content (76%–84%). CONCLUSIONS : The use of clinical exome sequencing for the interpretation and reporting of subsets of genes requires recognition of the substantial possibility of inadequate depth and breadth of sequencing coverage at clinically relevant locations. Inadequate depth of coverage may contribute to false-negative clinical ex- ome results

Electrical Nanoprobing of Semiconducting Carbon Nanotubes using an Atomic Force Microscope

We use an Atomic Force Microscope (AFM) tip to locally probe the electronic properties of semiconducting carbon nanotube transistors. A gold-coated AFM tip serves as a voltage or current probe in three-probe measurement setup. Using the tip as a movable current probe, we investigate the scaling of the device properties with channel length. Using the tip as a voltage probe, we study the properties of the contacts. We find that Au makes an excellent contact in the p-region, with no Schottky barrier. In the n-region large contact resistances were found which dominate the transport properties.Comment: 4 pages, 5 figure

Generalised additive dependency inflated models including aggregated covariates

Let us assume that X, Y and U are observed and that the conditional mean of U given X and Y can be expressed via an additive dependency of X, λ(X)Y and X + Y for some unspecified function . This structured regression model can be transferred to a hazard model or a density model when applied on some appropriate grid, and has important forecasting applications via structured marker dependent hazards models or structured density models including age-period-cohort relationships. The structured regression model is also important when the severity of the dependent variable has a complicated dependency on waiting times X, Y and the total waiting time X+Y . In case the conditional mean of U approximates a density, the regression model can be used to analyse the age-period-cohort model, also when exposure data are not available. In case the conditional mean of U approximates a marker dependent hazard, the regression model introduces new relevant age-period-cohort time scale interdependencies in understanding longevity. A direct use of the regression relationship introduced in this paper is the estimation of the severity of outstanding liabilities in non-life insurance companies. The technical approach taken is to use B-splines to capture the underlying one-dimensional unspecified functions. It is shown via finite sample simulation studies and an application for forecasting future asbestos related deaths in the UK that the B-spline approach works well in practice. Special consideration has been given to ensure identifiability of all models considered

Theoretical spin-wave dispersions in the antiferromagnetic phase AF1 of MnWO4_4 based on the polar atomistic model in P2

The spin wave dispersions of the low temperature antiferromagnetic phase (AF1) MnWO$_4$ have been numerically calculated based on the recently reported non-collinear spin configuration with two different canting angles. A Heisenberg model with competing magnetic exchange couplings and single-ion anisotropy terms could properly describe the spin wave excitations, including the newly observed low-lying energy excitation mode $\omega_2$=0.45 meV appearing at the magnetic zone centre. The spin wave dispersion and intensities are highly sensitive to two differently aligned spin-canting sublattices in the AF1 model. Thus this study reinsures the otherwise hardly provable hidden polar character in MnWO$_4$.Comment: 7 pages, 5 figure

Performance of a prototype active veto system using liquid scintillator for a dark matter search experiment

We report the performance of an active veto system using a liquid scintillator with NaI(Tl) crystals for use in a dark matter search experiment. When a NaI(Tl) crystal is immersed in the prototype detector, the detector tags 48% of the internal K-40 background in the 0-10 keV energy region. We also determined the tagging efficiency for events at 6-20 keV as 26.5 +/- 1.7% of the total events, which corresponds to 0.76 +/- 0.04 events/keV/kg/day. According to a simulation, approximately 60% of the background events from U, Th, and K radioisotopes in photomultiplier tubes are tagged at energies of 0-10 keV. Full shielding with a 40-cm-thick liquid scintillator can increase the tagging efficiency for both the internal K-40 and external background to approximately 80%.Comment: Submitted to Nuclear Instruments and Methods in Physics Research Section

Diameter Dependence of the Transport Properties of Antimony Telluride Nanowires

We report measurements of electronic, thermoelectric, and galvanomagnetic properties of individual single crystal antimony telluride (Sb2Te3) nanowires with diameters in the range of 20-100 nm. Temperature dependent resistivity and thermoelectric power (TEP) measurements indicate hole dominant diffusive thermoelectric generation, with an enhancement of the TEP for smaller diameter wires up to 110 uV/K at T = 300 K. We measure the magnetoresistance, in magnetic fields both parallel and perpendicular to the nanowire [110] axis, where strong anisotropic positive magnetoresistance behavior was observed

The quantization of the chiral Schwinger model based on the BFT-BFV formalism II

We apply an improved version of Batalin-Fradkin-Tyutin (BFT) Hamiltonian method to the a=1 chiral Schwinger Model, which is much more nontrivial than the a>1.$one. Furthermore, through the path integral quantization, we newly resolve the problem of the non-trivial$\delta$function as well as that of the unwanted Fourier parameter$\xi$ in the measure. As a result, we explicitly obtain the fully gauge invariant partition function, which includes a new type of Wess-Zumino (WZ) term irrelevant to the gauge symmetry as well as usual WZ action.Comment: 17 pages, To be published in J. Phys.