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

Constraints on cosmic strings using data from the first Advanced LIGO observing run

Cosmic strings are topological defects which can be formed in grand unified theory scale phase transitions in the early universe. They are also predicted to form in the context of string theory. The main mechanism for a network of Nambu-Goto cosmic strings to lose energy is through the production of loops and the subsequent emission of gravitational waves, thus offering an experimental signature for the existence of cosmic strings. Here we report on the analysis conducted to specifically search for gravitational-wave bursts from cosmic string loops in the data of Advanced LIGO 2015-2016 observing run (O1). No evidence of such signals was found in the data, and as a result we set upper limits on the cosmic string parameters for three recent loop distribution models. In this paper, we initially derive constraints on the string tension Gμ and the intercommutation probability, using not only the burst analysis performed on the O1 data set but also results from the previously published LIGO stochastic O1 analysis, pulsar timing arrays, cosmic microwave background and big-bang nucleosynthesis experiments. We show that these data sets are complementary in that they probe gravitational waves produced by cosmic string loops during very different epochs. Finally, we show that the data sets exclude large parts of the parameter space of the three loop distribution models we consider

General and business aviation noise study Noise exposures in the survey areas

7.50Available from British Library Document Supply Centre- DSC:3619.502(DORA-R--8711) / BLDSC - British Library Document Supply CentreSIGLEGBUnited Kingdo

Patient information after ruptured intracranial aneurysm

Aim. This paper reports an investigation into the effects of increased information for patients treated for intracranial aneurysm rupture. Background. Intracranial aneurysm rupture is a grave condition that requires immediate care. It can be treated in two different ways, by surgery or by endovascular procedure. Intracranial aneurysm rupture can mean great changes in life, both for the patient and their spouse or relatives. Methods. An intervention study was conducted using a quasi-experimental design. Participants were recruited consecutively over a period of 12 months and consisted of 62 patients treated for intracranial aneurysm rupture at a Swedish neurosurgical clinic. They were divided into two groups: an intervention group, who received written and oral information, and a comparison group, who received only oral information. Instruments. Self-report questionnaires were sent to patients’ homes 1–3 months after the aneurysm rupture. The questionnaires consisted of one study-specific instrument with questions about understanding of the information given and the State-Trait Anxiety Inventory, which measures worry or anxiety. Findings. The intervention group considered that the information that they received was somewhat easier to understand and that it corresponded more closely to their needs, compared with the comparison group. The majority of patients in both groups expressed a need for more and improved information. Levels of anxiety were high for the majority of patients, but no significant difference was evident between groups. Furthermore, the results showed that the majority of patients were given information without their spouse or relatives being present. Conclusion. Increased information seems to be needed for these patients. There is a need to continue the work to improve information-giving to them and their relatives