An integrated map of structural variation in 2,504 human genomes

Structural variants are implicated in numerous diseases and make up the majority of varying nucleotides among human genomes. Here we describe an integrated set of eight structural variant classes comprising both balanced and unbalanced variants, which we constructed using short-read DNA sequencing data and statistically phased onto haplotype blocks in 26 human populations. Analysing this set, we identify numerous gene-intersecting structural variants exhibiting population stratification and describe naturally occurring homozygous gene knockouts that suggest the dispensability of a variety of human genes. We demonstrate that structural variants are enriched on haplotypes identified by genome-wide association studies and exhibit enrichment for expression quantitative trait loci. Additionally, we uncover appreciable levels of structural variant complexity at different scales, including genic loci subject to clusters of repeated rearrangement and complex structural variants with multiple breakpoints likely to have formed through individual mutational events. Our catalogue will enhance future studies into structural variant demography, functional impact and disease association. © 2015 Macmillan Publishers Limited. All rights reserved

Phase Behavior of Aqueous Na-K-Mg-Ca-CI-NO3 Mixtures: Isopiestic Measurements and Thermodynamic Modeling

A comprehensive model has been established for calculating thermodynamic properties of multicomponent aqueous systems containing the Na{sup +}, K{sup +}, Mg{sup 2+}, Ca{sup 2+}, Cl{sup -}, and NO{sub 3}{sup -} ions. The thermodynamic framework is based on a previously developed model for mixed-solvent electrolyte solutions. The framework has been designed to reproduce the properties of salt solutions at temperatures ranging from the freezing point to 300 C and concentrations ranging from infinite dilution to the fused salt limit. The model has been parameterized using a combination of an extensive literature database and new isopiestic measurements for thirteen salt mixtures at 140 C. The measurements have been performed using Oak Ridge National Laboratory's (ORNL) previously designed gravimetric isopiestic apparatus, which makes it possible to detect solid phase precipitation. Water activities are reported for mixtures with a fixed ratio of salts as a function of the total apparent salt mole fraction. The isopiestic measurements reported here simultaneously reflect two fundamental properties of the system, i.e., the activity of water as a function of solution concentration and the occurrence of solid-liquid transitions. The thermodynamic model accurately reproduces the new isopiestic data as well as literature data for binary, ternary and higher-order subsystems. Because of its high accuracy in calculating vapor-liquid and solid-liquid equilibria, the model is suitable for studying deliquescence behavior of multicomponent salt systems

The predictive validity of the Two-Tiered Violence Risk Estimates Scale (TTV) in a long-term follow-up of violent offenders

Over the past few decades many structured risk appraisal measures have been created to respond to this need. The Two-Tiered Violence Risk Estimates Scale (TTV) is a measure designed to integrate both an actuarial estimate of violence risk with critical risk management indicators. The current study examined interrater reliability and the predictive validity of the TTV in a sample of violent offenders (n = 120) over an average follow-up period of 17.75 years. The TTV was retrospectively scored and compared with the Violence Risk Appraisal Guide (VRAG), the Statistical Information of Recidivism Scale-Revised (SIR-R1), and the Psychopathy Checklist-Revised (PCL-R). Approximately 53% of the sample reoffended violently, with an overall recidivism rate of 74%. Although the VRAG was the strongest predictor of violent recidivism in the sample, the Actuarial Risk Estimates (ARE) scale of the TTV produced a small, significant effect. The Risk Management Indicators (RMI) produced nonsignificant area under the curve (AUC) values for all recidivism outcomes. Comparisons between measures using AUC values and Cox regression showed that there were no statistical differences in predictive validity. The results of this research will be used to inform the validation and reliability literature on the TTV, and will contribute to the overall risk assessment literature. (PsycINFO Database Recor

Determination of the Venus eddy diffusion profile from CO and CO2 profiles using SOIR/Venus Express observations

We present a study of the SOIR/Venus Express CO2 and CO profiles in order to constrain the eddy diffusion profile in the Venus mesosphere (80 to 130 km of altitude). We compute the mean number density profile of both species, and the hydrostatic temperature based on the CO2 mean density profile. We use a 1D-photochemical/diffusion model to adjust the eddy diffusion profile such that the 1D-model and SOIR CO profiles best agree. We compare our results with eddy diffusion profiles found in the literature. We use our approach to revisit the He and CO2 profiles from Pioneer Venus probe mass spectrometer in order to derive an eddy diffusion profile extending from 80 to 200 km of altitude. Our eddy diffusion profile is different in shape and in magnitude compared to the Pioneer Venus profile: it is equal to 3.6 × 106 cm2/s at 110 km, 7.5 × 106 cm2/s at 120 km, 0.4 × 106 cm2/s at 130 km, and 201 × 106 cm2/s at 140 km, and constant below 110 km and above 140 km. This new eddy diffusion profile can be used in Venus Global Circulation Models as well as 1D-photochemical models