8 research outputs found
The growth of intracluster light in XCS-HSC galaxy clusters from 0.1 < z < 0.5
We estimate the Intracluster Light (ICL) component within a sample of 18clusters detected in XMM Cluster Survey (XCS) data using deep (26.8 mag) Hyper Suprime Cam Subaru Strategic Program DR1 (HSC-SSP DR1)-band data. We apply a rest-frame isophotal threshold to our clusters, belowwhich we define light as the ICL within an aperture of (X-ray estimate of ) centered on the Brightest Cluster Galaxy(BCG). After applying careful masking and corrections for flux lossesfrom background subtraction, we recover 20% of the ICL flux,approximately four times our estimate of the typical background at thesame isophotal level ( 5%). We find that the ICL makes up about 24% of the total cluster stellar mass on average ( 41%including the flux contained in the BCG within 50 kpc); this value iswell-matched with other observational studies andsemi-analytic/numerical simulations, but is significantly smaller thanresults from recent hydrodynamical simulations (even when measured in anobservationally consistent way). We find no evidence for any linksbetween the amount of ICL flux with cluster mass, but find a growth rateof for the ICL between . We conclude that theICL is the dominant evolutionary component of stellar mass in clustersfrom . Our work highlights the need for a consistent approachwhen measuring ICL alongside the need for deeper imaging, in order tounambiguously measure the ICL across as broad a redshift range aspossible (e.g. 10-year stacked imaging from the Vera C. RubinObservatory)
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease
Inherited retinal disease is a common cause of visual impairment and represents a highly heterogeneous group of conditions. Here, we present findings from a cohort of 722 individuals with inherited retinal disease, who have had whole-genome sequencing (n = 605), whole-exome sequencing (n = 72), or both (n = 45) performed, as part of the NIHR-BioResource Rare Diseases research study. We identified pathogenic variants (single-nucleotide variants, indels, or structural variants) for 404/722 (56%) individuals. Whole-genome sequencing gives unprecedented power to detect three categories of pathogenic variants in particular: structural variants, variants in GC-rich regions, which have significantly improved coverage compared to whole-exome sequencing, and variants in non-coding regulatory regions. In addition to previously reported pathogenic regulatory variants, we have identified a previously unreported pathogenic intronic variant in in two males with choroideremia. We have also identified 19 genes not previously known to be associated with inherited retinal disease, which harbor biallelic predicted protein-truncating variants in unsolved cases. Whole-genome sequencing is an increasingly important comprehensive method with which to investigate the genetic causes of inherited retinal disease.This work was supported by The National Institute for Health Research England (NIHR) for the NIHR BioResource â Rare Diseases project (grant number RG65966). The Moorfields Eye Hospital cohort of patients and clinical and imaging data were ascertained and collected with the support of grants from the National Institute for Health Research Biomedical Research Centre at Moorfields Eye Hospital, National Health Service Foundation Trust, and UCL Institute of Ophthalmology, Moorfields Eye Hospital Special Trustees, Moorfields Eye Charity, the Foundation Fighting Blindness (USA), and Retinitis Pigmentosa Fighting Blindness. M.M. is a recipient of an FFB Career Development Award. E.M. is supported by UCLH/UCL NIHR Biomedical Research Centre. F.L.R. and D.G. are supported by Cambridge NIHR Biomedical Research Centre
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
The occurrence of non-epileptic hyperkinetic movements in the context of developmental epileptic encephalopathies is an increasingly recognized phenomenon. Identification of causative mutations provides an important insight into common pathogenic mechanisms that cause both seizures and abnormal motor control. We report bi-allelic loss-of-function CACNA1B variants in six children from three unrelated families whose affected members present with a complex and progressive neurological syndrome. All affected individuals presented with epileptic encephalopathy, severe neurodevelopmental delay (often with regression), and a hyperkinetic movement disorder. Additional neurological features included postnatal microcephaly and hypotonia. Five children died in childhood or adolescence (mean age of death: 9 years), mainly as a result of secondary respiratory complications. CACNA1B encodes the pore-forming subunit of the pre-synaptic neuronal voltage-gated calcium channel Cav2.2/N-type, crucial for SNARE-mediated neurotransmission, particularly in the early postnatal period. Bi-allelic loss-of-function variants in CACNA1B are predicted to cause disruption of Ca2+ influx, leading to impaired synaptic neurotransmission. The resultant effect on neuronal function is likely to be important in the development of involuntary movements and epilepsy. Overall, our findings provide further evidence for the key role of Cav2.2 in normal human neurodevelopment.MAK is funded by an NIHR Research Professorship and receives funding from the Wellcome Trust, Great Ormond Street Children's Hospital Charity, and Rosetrees Trust. E.M. received funding from the Rosetrees Trust (CD-A53) and Great Ormond Street Hospital Children's Charity. K.G. received funding from Temple Street Foundation. A.M. is funded by Great Ormond Street Hospital, the National Institute for Health Research (NIHR), and Biomedical Research Centre. F.L.R. and D.G. are funded by Cambridge Biomedical Research Centre. K.C. and A.S.J. are funded by NIHR Bioresource for Rare Diseases. The DDD Study presents independent research commissioned by the Health Innovation Challenge Fund (grant number HICF-1009-003), a parallel funding partnership between the Wellcome Trust and the Department of Health, and the Wellcome Trust Sanger Institute (grant number WT098051). We acknowledge support from the UK Department of Health via the NIHR comprehensive Biomedical Research Centre award to Guy's and St. Thomas' National Health Service (NHS) Foundation Trust in partnership with King's College London. This research was also supported by the NIHR Great Ormond Street Hospital Biomedical Research Centre. J.H.C. is in receipt of an NIHR Senior Investigator Award. The research team acknowledges the support of the NIHR through the Comprehensive Clinical Research Network. The views expressed are those of the author(s) and not necessarily those of the NHS, the NIHR, Department of Health, or Wellcome Trust. E.R.M. acknowledges support from NIHR Cambridge Biomedical Research Centre, an NIHR Senior Investigator Award, and the University of Cambridge has received salary support in respect of E.R.M. from the NHS in the East of England through the Clinical Academic Reserve. I.E.S. is supported by the National Health and Medical Research Council of Australia (Program Grant and Practitioner Fellowship)
Exploring relations between BCG and cluster properties in the SPectroscopic IDentification of eROSITA Sources survey from 0.05 <z <0.3
We present a sample of 329 low-to intermediate-redshift (0.05 <zPeer reviewe
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Dark energy survey operations: years 4 and 5
The Dark Energy Survey (DES) is an operating optical survey aimed at understanding the accelerating expansion of the universe using four complementary methods: weak gravitational lensing, galaxy cluster counts, baryon acoustic oscillations, and Type Ia supernovae. To perform the 5000 sq-degree wide field and 30 sq-degree supernova surveys, the DES Collaboration built the Dark Energy Camera (DECam), a 3 square-degree, 570-Megapixel CCD camera that was installed at the prime focus of the Blanco 4-meter telescope at the Cerro Tololo Inter-American Observatory (CTIO). DES has completed its third observing season out of a nominal five. This paper describes DES "Year 4" (Y4) and "Year 5" (Y5), the survey strategy, an outline of the survey operations procedures, the efficiency of operations and the causes of lost observing time. It provides details about the quality of these two-season's data, a summary of the overall status, and plans for the final survey season.U.S. Department of Energy; U.S. National Science Foundation; Ministry of Science and Education of Spain; Science and Technology Facilities Council of the United Kingdom; Higher Education Funding Council for England; National Center for Supercomputing Applications at the University of Illinois at Urbana-Champaign; Kavli Institute of Cosmological Physics at the University of Chicago; Center for Cosmology and Astro-Particle Physics at the Ohio State University; Mitchell Institute for Fundamental Physics and Astronomy at Texas AM University; Financiadora de Estudos e Projetos, Fundacao Carlos Chagas Filho de Amparo a Pesquisa do Estado do Rio de Janeiro; Conselho Nacional de Desenvolvimento Cientifico e Tecnologico; Ministerio da Ciencia, Tecnologia e Inovacao; Deutsche Forschungsgemeinschaft; Dark Energy Survey; National Science Foundation [AST-1138766, AST-1536171]; MINECO [AYA2015-71825, ESP2015-66861, FPA2015-68048, SEV-2016-0588, SEV-2016-0597, MDM-2015-0509]; European Union; CERCA program of the Generalitat de Catalunya; European Research Council under the European Union's Seventh Framework Program (FP7/2007-2013) including ERC grant [240672, 291329, 306478]; Australian Research Council Centre of Excellence for All-sky Astrophysics (CAASTRO) [CE110001020]; Brazilian Instituto Nacional de Ciencia e Tecnologia (INCT) e-Universe (CNPq) [465376/2014-2]; U.S. Department of Energy, Office of Science, Office of High Energy Physics [DE-AC02-07CH11359]; Argonne National Laboratory; University of California at Santa Cruz; University of Cambridge; Centro de Investigaciones Energeticas; Medioambientales y Tecnologicas-Madrid; University of Chicago; University College London; DES-Brazil Consortium; University of Edinburgh; Eidgenossische Technische Hochschule (ETH) Zurich; Fermi National Accelerator Laboratory; University of Illinois at Urbana-Champaign; Institut de Ciencies de l'Espai (IEEC/CSIC); Institut de Fisica d'Altes Energies; Lawrence Berkeley National Laboratory; Ludwig-Maximilians Universitat Munchen; associated Excellence Cluster Universe; University of Michigan; National Optical Astronomy Observatory; University of Nottingham; Ohio State University; University of Pennsylvania; University of Portsmouth; SLAC National Accelerator Laboratory; Stanford University; University of Sussex; OzDES Membership Consortium; Texas AM UniversityThis item from the UA Faculty Publications collection is made available by the University of Arizona with support from the University of Arizona Libraries. If you have questions, please contact us at [email protected]
Exploring relations between BCG and cluster properties in the SPectroscopic IDentification of eROSITA Sources survey from 0.05 <z < 0.3
Whole-genome sequencing of patients with rare diseases in a national health system
Most patients with rare diseases do not receive a molecular diagnosis and the aetiological variants and causative genes for more than half such disorders remain to be discovered1. Here we used whole-genome sequencing (WGS) in a national health system to streamline diagnosis and to discover unknown aetiological variants in the coding and non-coding regions of the genome. We generated WGS data for 13,037 participants, of whom 9,802 had a rare disease, and provided a genetic diagnosis to 1,138 of the 7,065 extensively phenotyped participants. We identified 95 Mendelian associations between genes and rare diseases, of which 11 have been discovered since 2015 and at least 79 are confirmed to be aetiological. By generating WGS data of UK Biobank participants2, we found that rare alleles can explain the presence of some individuals in the tails of a quantitative trait for red blood cells. Finally, we identified four novel non-coding variants that cause disease through the disruption of transcription of ARPC1B, GATA1, LRBA and MPL. Our study demonstrates a synergy by using WGS for diagnosis and aetiological discovery in routine healthcare