1,233 research outputs found
A Model-Based Analysis of GC-Biased Gene Conversion in the Human and Chimpanzee Genomes
GC-biased gene conversion (gBGC) is a recombination-associated process that favors the fixation of G/C alleles over A/T alleles. In mammals, gBGC is hypothesized to contribute to variation in GC content, rapidly evolving sequences, and the fixation of deleterious mutations, but its prevalence and general functional consequences remain poorly understood. gBGC is difficult to incorporate into models of molecular evolution and so far has primarily been studied using summary statistics from genomic comparisons. Here, we introduce a new probabilistic model that captures the joint effects of natural selection and gBGC on nucleotide substitution patterns, while allowing for correlations along the genome in these effects. We implemented our model in a computer program, called phastBias, that can accurately detect gBGC tracts about 1 kilobase or longer in simulated sequence alignments. When applied to real primate genome sequences, phastBias predicts gBGC tracts that cover roughly 0.3% of the human and chimpanzee genomes and account for 1.2% of human-chimpanzee nucleotide differences. These tracts fall in clusters, particularly in subtelomeric regions; they are enriched for recombination hotspots and fast-evolving sequences; and they display an ongoing fixation preference for G and C alleles. They are also significantly enriched for disease-associated polymorphisms, suggesting that they contribute to the fixation of deleterious alleles. The gBGC tracts provide a unique window into historical recombination processes along the human and chimpanzee lineages. They supply additional evidence of long-term conservation of megabase-scale recombination rates accompanied by rapid turnover of hotspots. Together, these findings shed new light on the evolutionary, functional, and disease implications of gBGC. The phastBias program and our predicted tracts are freely available. © 2013 Capra et al
Purifying Selection in Deeply Conserved Human Enhancers Is More Consistent than in Coding Sequences
(c) 2014 De Silva et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited
Quantifying the Quiet Epidemic: Diagnosing Dementia in Twentieth Century Britain
During the late 20(th) century numerical rating scales became central to the diagnosis of dementia and helped transform attitudes about its causes and prevalence. Concentrating largely on the development and use of the Blessed Dementia Scale, I argue that rating scales served professional ends during the 1960s and 1970s. They helped old age psychiatrists establish jurisdiction over conditions such as dementia and present their field as a vital component of the welfare state, where they argued that ‘reliable modes of diagnosis’ were vital to the allocation of resources. I show how these arguments appealed to politicians, funding bodies and patient groups, who agreed that dementia was a distinct disease and claimed research on its causes and prevention should be designated ‘top priority’. But I also show that worries about the replacement of clinical acumen with technical and depersonalized methods, which could conceivably be applied by anyone, led psychiatrists to stress that rating scales had their limits and could be used only by trained experts
Kyphosis and paraspinal muscle composition in older men: a cross-sectional study for the osteoporotic fractures in men (MrOS) research group
BACKGROUND: The prevalence of hyperkyphosis is increased in older men; however, risk factors other than age and vertebral fractures are not well established. We previously reported that poor paraspinal muscle composition contributes to more severe kyphosis in a cohort of both older men and women. METHODS: To specifically evaluate this association in older men, we conducted a cross-sectional study to evaluate the association of paraspinal muscle composition and degree of thoracic kyphosis in an analytic cohort of 475 randomly selected participants from the Osteoporotic Fractures in Men (MrOS) study with baseline abdominal quantitative computed tomography (QCT) scans and plain thoracic radiographs. Baseline abdominal QCT scans were used to obtain abdominal body composition measurements of paraspinal muscle and adipose tissue distribution. Supine lateral spine radiographs were used to measure Cobb angle of kyphosis. We examined the linear association of muscle volume, fat volume and kyphosis using loess plots. Multivariate linear models were used to investigate the association between muscle and kyphosis using total muscle volume, as well as individual components of the total muscle volume, including adipose and muscle compartments alone, controlling for age, height, vertebral fractures, and total hip bone mineral density (BMD). We examined these associations among those with no prevalent vertebral fracture and those with BMI < 30 kg/m(2). RESULTS: Among men in the analytic cohort, means (SD) were 74 (SD = 5.9) years for age, and 37.5 (SD = 11.9) degrees for Cobb angle of kyphosis. Men in the lowest tertile of total paraspinal muscle volume had greater mean Cobb angle than men in the highest tertile, although test of linear trend across tertiles did not reach statistical significance. Neither lower paraspinal skeletal muscle volume (p-trend = 0.08), or IMAT (p-trend = 0.96) was associated with greater kyphosis. Results were similar among those with no prevalent vertebral fractures. However, among men with BMI < 30 kg/m(2), those in the lowest tertile of paraspinal muscle volume had greater adjusted mean kyphosis (40.0, 95% CI: 37.8 – 42.1) compared to the highest tertile (36.3, 95% CI: 34.2 – 38.4). CONCLUSIONS: These results suggest that differences in body composition may potentially influence kyphosis
First narrow-band search for continuous gravitational waves from known pulsars in advanced detector data
Spinning neutron stars asymmetric with respect to their rotation axis are potential sources of
continuous gravitational waves for ground-based interferometric detectors. In the case of known pulsars a
fully coherent search, based on matched filtering, which uses the position and rotational parameters
obtained from electromagnetic observations, can be carried out. Matched filtering maximizes the signalto-
noise (SNR) ratio, but a large sensitivity loss is expected in case of even a very small mismatch
between the assumed and the true signal parameters. For this reason, narrow-band analysis methods have
been developed, allowing a fully coherent search for gravitational waves from known pulsars over a
fraction of a hertz and several spin-down values. In this paper we describe a narrow-band search of
11 pulsars using data from Advanced LIGO’s first observing run. Although we have found several initial
outliers, further studies show no significant evidence for the presence of a gravitational wave signal.
Finally, we have placed upper limits on the signal strain amplitude lower than the spin-down limit for 5 of
the 11 targets over the bands searched; in the case of J1813-1749 the spin-down limit has been beaten for
the first time. For an additional 3 targets, the median upper limit across the search bands is below the
spin-down limit. This is the most sensitive narrow-band search for continuous gravitational waves carried
out so far
Gravitational Waves From Known Pulsars: Results From The Initial Detector Era
We present the results of searches for gravitational waves from a large selection of pulsars using data from the most recent science runs (S6, VSR2 and VSR4) of the initial generation of interferometric gravitational wave detectors LIGO (Laser Interferometric Gravitational-wave Observatory) and Virgo. We do not see evidence for gravitational wave emission from any of the targeted sources but produce upper limits on the emission amplitude. We highlight the results from seven young pulsars with large spin-down luminosities. We reach within a factor of five of the canonical spin-down limit for all seven of these, whilst for the Crab and Vela pulsars we further surpass their spin-down limits. We present new or updated limits for 172 other pulsars (including both young and millisecond pulsars). Now that the detectors are undergoing major upgrades, and, for completeness, we bring together all of the most up-to-date results from all pulsars searched for during the operations of the first-generation LIGO, Virgo and GEO600 detectors. This gives a total of 195 pulsars including the most recent results described in this paper.United States National Science FoundationScience and Technology Facilities Council of the United KingdomMax-Planck-SocietyState of Niedersachsen/GermanyAustralian Research CouncilInternational Science Linkages program of the Commonwealth of AustraliaCouncil of Scientific and Industrial Research of IndiaIstituto Nazionale di Fisica Nucleare of ItalySpanish Ministerio de Economia y CompetitividadConselleria d'Economia Hisenda i Innovacio of the Govern de les Illes BalearsNetherlands Organisation for Scientific ResearchPolish Ministry of Science and Higher EducationFOCUS Programme of Foundation for Polish ScienceRoyal SocietyScottish Funding CouncilScottish Universities Physics AllianceNational Aeronautics and Space AdministrationOTKA of HungaryLyon Institute of Origins (LIO)National Research Foundation of KoreaIndustry CanadaProvince of Ontario through the Ministry of Economic Development and InnovationNational Science and Engineering Research Council CanadaCarnegie TrustLeverhulme TrustDavid and Lucile Packard FoundationResearch CorporationAlfred P. Sloan FoundationAstronom
Implications For The Origin Of GRB 051103 From LIGO Observations
We present the results of a LIGO search for gravitational waves (GWs)
associated with GRB 051103, a short-duration hard-spectrum gamma-ray burst
(GRB) whose electromagnetically determined sky position is coincident with the
spiral galaxy M81, which is 3.6 Mpc from Earth. Possible progenitors for
short-hard GRBs include compact object mergers and soft gamma repeater (SGR)
giant flares. A merger progenitor would produce a characteristic GW signal that
should be detectable at the distance of M81, while GW emission from an SGR is
not expected to be detectable at that distance. We found no evidence of a GW
signal associated with GRB 051103. Assuming weakly beamed gamma-ray emission
with a jet semi-angle of 30 deg we exclude a binary neutron star merger in M81
as the progenitor with a confidence of 98%. Neutron star-black hole mergers are
excluded with > 99% confidence. If the event occurred in M81 our findings
support the the hypothesis that GRB 051103 was due to an SGR giant flare,
making it the most distant extragalactic magnetar observed to date.Comment: 8 pages, 3 figures. For a repository of data used in the publication,
go to: https://dcc.ligo.org/cgi-bin/DocDB/ShowDocument?docid=15166 . Also see
the announcement for this paper on ligo.org at:
http://www.ligo.org/science/Publication-GRB051103/index.ph
Search for Gravitational Wave Bursts from Six Magnetars
Soft gamma repeaters (SGRs) and anomalous X-ray pulsars (AXPs) are thought to be magnetars: neutron stars powered by extreme magnetic fields. These rare objects are characterized by repeated and sometimes spectacular gamma-ray bursts. The burst mechanism might involve crustal fractures and excitation of non-radial modes which would emit gravitational waves (GWs). We present the results of a search for GW bursts from six galactic magnetars that is sensitive to neutron star f-modes, thought to be the most efficient GW emitting oscillatory modes in compact stars. One of them, SGR 0501+4516, is likely similar to 1 kpc from Earth, an order of magnitude closer than magnetars targeted in previous GW searches. A second, AXP 1E 1547.0-5408, gave a burst with an estimated isotropic energy >10(44) erg which is comparable to the giant flares. We find no evidence of GWs associated with a sample of 1279 electromagnetic triggers from six magnetars occurring between 2006 November and 2009 June, in GW data from the LIGO, Virgo, and GEO600 detectors. Our lowest model-dependent GW emission energy upper limits for band-and time-limited white noise bursts in the detector sensitive band, and for f-mode ringdowns (at 1090 Hz), are 3.0 x 10(44)d(1)(2) erg and 1.4 x 10(47)d(1)(2) erg, respectively, where d(1) = d(0501)/1 kpc and d(0501) is the distance to SGR 0501+4516. These limits on GW emission from f-modes are an order of magnitude lower than any previous, and approach the range of electromagnetic energies seen in SGR giant flares for the first time.United States National Science FoundationScience and Technology Facilities Council of the United KingdomMax-Planck-SocietyState of Niedersachsen/GermanyItalian Istituto Nazionale di Fisica NucleareFrench Centre National de la Recherche ScientifiqueAustralian Research CouncilCouncil of Scientific and Industrial Research of IndiaIstituto Nazionale di Fisica Nucleare of ItalySpanish Ministerio de Educacion y CienciaConselleria d'Economia Hisenda i Innovacio of the Govern de les Illes BalearsFoundation for Fundamental Research on Matter supported by the Netherlands Organisation for Scientific ResearchPolish Ministry of Science and Higher EducationFoundation for Polish ScienceRoyal SocietyScottish Funding CouncilScottish Universities Physics AllianceNational Aeronautics and Space Administration NNH07ZDA001-GLASTCarnegie TrustLeverhulme TrustDavid and Lucile Packard FoundationResearch CorporationAlfred P. Sloan FoundationRussian Space AgencyRFBR 09-02-00166aIPN JPL Y503559 (Odyssey), NASA NNG06GH00G, NASA NNX07AM42G, NASA NNX08AC89G (INTEGRAL), NASA NNG06GI896, NASA NNX07AJ65G, NASA NNX08AN23G (Swift), NASA NNX07AR71G (MESSENGER), NASA NNX06AI36G, NASA NNX08AB84G, NASA NNX08AZ85G (Suzaku), NASA NNX09AU03G (Fermi)Astronom
Implementation and testing of the first prompt search for gravitational wave transients with electromagnetic counterparts
Aims. A transient astrophysical event observed in both gravitational wave
(GW) and electromagnetic (EM) channels would yield rich scientific rewards. A
first program initiating EM follow-ups to possible transient GW events has been
developed and exercised by the LIGO and Virgo community in association with
several partners. In this paper, we describe and evaluate the methods used to
promptly identify and localize GW event candidates and to request images of
targeted sky locations.
Methods. During two observing periods (Dec 17 2009 to Jan 8 2010 and Sep 2 to
Oct 20 2010), a low-latency analysis pipeline was used to identify GW event
candidates and to reconstruct maps of possible sky locations. A catalog of
nearby galaxies and Milky Way globular clusters was used to select the most
promising sky positions to be imaged, and this directional information was
delivered to EM observatories with time lags of about thirty minutes. A Monte
Carlo simulation has been used to evaluate the low-latency GW pipeline's
ability to reconstruct source positions correctly.
Results. For signals near the detection threshold, our low-latency algorithms
often localized simulated GW burst signals to tens of square degrees, while
neutron star/neutron star inspirals and neutron star/black hole inspirals were
localized to a few hundred square degrees. Localization precision improves for
moderately stronger signals. The correct sky location of signals well above
threshold and originating from nearby galaxies may be observed with ~50% or
better probability with a few pointings of wide-field telescopes.Comment: 17 pages. This version (v2) includes two tables and 1 section not
included in v1. Accepted for publication in Astronomy & Astrophysic
Search for Gravitational Waves from Low Mass Compact Binary Coalescence in LIGO's Sixth Science Run and Virgo's Science Runs 2 and 3
We report on a search for gravitational waves from coalescing compact
binaries using LIGO and Virgo observations between July 7, 2009 and October 20,
2010. We searched for signals from binaries with total mass between 2 and 25
solar masses; this includes binary neutron stars, binary black holes, and
binaries consisting of a black hole and neutron star. The detectors were
sensitive to systems up to 40 Mpc distant for binary neutron stars, and further
for higher mass systems. No gravitational-wave signals were detected. We report
upper limits on the rate of compact binary coalescence as a function of total
mass, including the results from previous LIGO and Virgo observations. The
cumulative 90%-confidence rate upper limits of the binary coalescence of binary
neutron star, neutron star- black hole and binary black hole systems are 1.3 x
10^{-4}, 3.1 x 10^{-5} and 6.4 x 10^{-6} Mpc^{-3}yr^{-1}, respectively. These
upper limits are up to a factor 1.4 lower than previously derived limits. We
also report on results from a blind injection challenge.Comment: 11 pages, 5 figures. For a repository of data used in the
publication, go to:
. Also see the
announcement for this paper on ligo.org at:
<http://www.ligo.org/science/Publication-S6CBCLowMass/index.php
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