The Hillarys Transect (1): Seasonal and Coss-shelf Variability of Physical and Chemical Water Properties off Perth, Western Australia, 1996-98

A 27-month study of the water properties across the continental shelf off Perth, Western Australia (the Hillarys Transect ) has provided the first systematic inter-disciplinary climatology of the physical, chemical, optical and biological cycles across the shelf. This paper describes the main features of the seasonal and cross-shelf variability of the physical oceanography and chemistry, while companion papers discuss some of the links between the biology and physics of the regio

The Murchison Widefield Array: Design Overview

The Murchison Widefield Array (MWA) is a dipole-based aperture array synthesis telescope designed to operate in the 80-300 MHz frequency range. It is capable of a wide range of science investigations, but is initially focused on three key science projects. These are detection and characterization of 3-dimensional brightness temperature fluctuations in the 21cm line of neutral hydrogen during the Epoch of Reionization (EoR) at redshifts from 6 to 10, solar imaging and remote sensing of the inner heliosphere via propagation effects on signals from distant background sources,and high-sensitivity exploration of the variable radio sky. The array design features 8192 dual-polarization broad-band active dipoles, arranged into 512 tiles comprising 16 dipoles each. The tiles are quasi-randomly distributed over an aperture 1.5km in diameter, with a small number of outliers extending to 3km. All tile-tile baselines are correlated in custom FPGA-based hardware, yielding a Nyquist-sampled instantaneous monochromatic uv coverage and unprecedented point spread function (PSF) quality. The correlated data are calibrated in real time using novel position-dependent self-calibration algorithms. The array is located in the Murchison region of outback Western Australia. This region is characterized by extremely low population density and a superbly radio-quiet environment,allowing full exploitation of the instrumental capabilities.Comment: 9 pages, 5 figures, 1 table. Accepted for publication in Proceedings of the IEE

Patients' ratings of genetic conditions validate a taxonomy to simplify decisions about preconception carrier screening via genome sequencing

Advances in genome sequencing and gene discovery have created opportunities to efficiently assess more genetic conditions than ever before. Given the large number of conditions that can be screened, the implementation of expanded carrier screening using genome sequencing will require practical methods of simplifying decisions about the conditions for which patients want to be screened. One method to simplify decision making is to generate a taxonomy based on expert judgment. However, expert perceptions of condition attributes used to classify these conditions may differ from those used by patients. To understand whether expert and patient perceptions differ, we asked women who had received preconception genetic carrier screening in the last 3 years to fill out a survey to rate the attributes (predictability, controllability, visibility, and severity) of several autosomal recessive or X-linked genetic conditions. These conditions were classified into one of five taxonomy categories developed by subject experts (significantly shortened lifespan, serious medical problems, mild medical problems, unpredictable medical outcomes, and adult-onset conditions). A total of 193 women provided 739 usable ratings across 20 conditions. The mean ratings and correlations demonstrated that participants made distinctions across both attributes and categories. Aggregated mean attribute ratings across categories demonstrated logical consistency between the key features of each attribute and category, although participants perceived little difference between the mild and serious categories. This study provides empirical evidence for the validity of our proposed taxonomy, which will simplify patient decisions for results they would like to receive from preconception carrier screening via genome sequencing

Is telomere length socially patterned? Evidence from the West of Scotland Twenty-07 study

Lower socioeconomic status (SES) is strongly associated with an increased risk of morbidity and premature mortality, but it is not known if the same is true for telomere length, a marker often used to assess biological ageing. The West of Scotland Twenty-07 Study was used to investigate this and consists of three cohorts aged approximately 35 (N = 775), 55 (N = 866) and 75 years (N = 544) at the time of telomere length measurement. Four sets of measurements of SES were investigated: those collected contemporaneously with telomere length assessment, educational markers, SES in childhood and SES over the preceding twenty years. We found mixed evidence for an association between SES and telomere length. In 35-year-olds, many of the education and childhood SES measures were associated with telomere length, i.e. those in poorer circumstances had shorter telomeres, as was intergenerational social mobility, but not accumulated disadvantage. A crude estimate showed that, at the same chronological age, social renters, for example, were nine years (biologically) older than home owners. No consistent associations were apparent in those aged 55 or 75. There is evidence of an association between SES and telomere length, but only in younger adults and most strongly using education and childhood SES measures. These results may reflect that childhood is a sensitive period for telomere attrition. The cohort differences are possibly the result of survival bias suppressing the SES-telomere association; cohort effects with regard different experiences of SES; or telomere possibly being a less effective marker of biological ageing at older ages

Generating a taxonomy for genetic conditions relevant to reproductive planning

As genome or exome sequencing (hereafter genome-scale sequencing) becomes more integrated into standard care, carrier testing is an important possible application. Carrier testing using genome-scale sequencing can identify a large number of conditions, but choosing which conditions/genes to evaluate as well as which results to disclose can be complicated. Carrier testing generally occurs in the context of reproductive decision-making and involves patient values in a way that other types of genetic testing may not. The Kaiser Permanente Clinical Sequencing Exploratory Research program is conducting a randomized clinical trial of preconception carrier testing that allows participants to select their preferences for results from among broad descriptive categories rather than selecting individual conditions. This paper describes 1) the criteria developed by the research team, the return of results committee (RORC), and stakeholders for defining the categories; 2) the process of refining the categories based on input from patient focus groups and validation through a patient survey; and, 3) how the RORC then assigned specific gene-condition pairs to taxonomy categories being piloted in the trial. The development of four categories (serious, moderate/mild, unpredictable, late onset) for sharing results allows patients to select results based on their values without separately deciding their interest in knowing their carrier status for hundreds of conditions. A fifth category, lifespan limiting, was always shared. The lessons learned may be applicable in other results disclosure situations, such as incidental findings

Digital Signal Processing Research Program

Contains table of contents for Section 2, an introduction and reports on fourteen research projects.U.S. Navy - Office of Naval Research Grant N00014-91-J-1628Defense Advanced Research Projects Agency/U.S. Navy - Office of Naval Research Grant N00014-89-J-1489MIT - Woods Hole Oceanographic Institution Joint ProgramLockheed Sanders, Inc./U.S. Navy Office of Naval Research Contract N00014-91-C-0125U.S. Air Force - Office of Scientific Research Grant AFOSR-91-0034U.S. Navy - Office of Naval Research Grant N00014-91-J-1628AT&T Laboratories Doctoral Support ProgramNational Science Foundation Fellowshi

Study of redshifted H I from the epoch of reionization with drift scan

The detection of the Epoch of Reionization (EoR) in the redshifted 21-cm line is a challenging task. Here we formulate the detection of the EoR signal using the drift scan strategy. This method potentially has better instrumental stability as compared to the case where a single patch of sky is tracked. We demonstrate that the correlation time between measured visibilities could extend up to 1-2 hr for an interferometer array such as the Murchison Widefield Array (MWA), which has a wide primary beam. We estimate the EoR power based on cross-correlation of visibilities across time and show that the drift scan strategy is capable of the detection of the EoR signal with comparable/better signal-to-noise as compared to the tracking case. We also estimate the visibility correlation for a set of bright point sources and argue that the statistical inhomogeneity of bright point sources might allow their separation from the EoR signal

Quantifying ionospheric effects on time-domain astrophysics with the Murchison Widefield Array

© 2015 The Authors. Published by Oxford University Press on behalf of the Royal Astronomical Society. Refraction and diffraction of incoming radio waves by the ionosphere induce time variability in the angular positions, peak amplitudes and shapes of radio sources, potentially complicating the automated cross-matching and identification of transient and variable radio sources. In this work, we empirically assess the effects of the ionosphere on data taken by the Murchison Widefield Array (MWA) radio telescope. We directly examine 51 h of data observed over 10 nights under quiet geomagnetic conditions (global storm index Kp < 2), analysing the behaviour of short-time-scale angular position and peak flux density variations of around ten thousand unresolved sources. We find that while much of the variation in angular position can be attributed to ionospheric refraction, the characteristic displacements (10-20 arcsec) at 154 MHz are small enough that search radii of 1-2 arcmin should be sufficient for crossmatching under typical conditions. By examining bulk trends in amplitude variability, we place upper limits on the modulation index associated with ionospheric scintillation of 1-3 per cent for the various nights. For sources fainter than ~1 Jy, this variation is below the image noise at typical MWA sensitivities. Our results demonstrate that the ionosphere is not a significant impediment to the goals of time-domain science with the MWA at 154 MHz

Serendipitous discovery of a dying Giant Radio Galaxy associated with NGC 1534, using the murchison widefield array

Recent observations with the Murchison Widefield Array at 185 MHz have serendipitously unveiled a heretofore unknown giant and relatively nearby (z=0.0178) radio galaxy associated with NGC 1534. The diffuse emission presented here is the first indication that NGC 1534 is one of a rare class of objects (along with NGC 5128 and NGC 612) in which a galaxy with a prominent dust lane hosts radio emission on scales of ~700 kpc. We present details of the radio emission along with a detailed comparison with other radio galaxies with discs. NGC 1534 is the lowest surface brightness radio galaxy known with an estimated scaled 1.4-GHz surface brightness of just 0.2 mJy arcmin-2. The radio lobes have one of the steepest spectral indices yet observed: α = -2.1 ± 0.1, and the core to lobe luminosity ratio is <0.1 per cent. We estimate the space density of this low brightness (dying) phase of radio galaxy evolution as 7 × 10-7 Mpc-3 and argue that normal AGN cannot spend more than 6 per cent of their lifetime in this phase if they all go through the same cycle

Heimler Syndrome is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6

Heimler syndrome (HS) is a rare recessive disorder characterized by sensorineural hearing loss (SNHL), amelogenesis imperfecta, nail abnormalities and occasional or late onset retinal pigmentation. We ascertained eight families with HS, and - using a whole exome sequencing approach - identified biallelic mutations in PEX1 or PEX6 in six of them. Loss of function mutations in both genes are known causes of a spectrum of autosomal recessive peroxisome biogenesis disorders (PBDs), including Zellweger syndrome. PBDs are characterized by leukodystrophy, hypotonia, SNHL, retinopathy, and skeletal, craniofacial, and liver abnormalities. We demonstrate that each HS family has at least one hypomorphic allele that results in extremely mild peroxisomal dysfunction. Although individuals with HS share some subtle clinical features found in PBDs, the overlap is minimal and the diagnosis was not suggested by routine blood and skin fibroblast analyses used to detect PBDs. In conclusion, our findings define Heimler syndrome as a mild PBD, expanding the pleiotropy of mutations in PEX1 and PEX6