| 1. |
- Fresard, Laure, et al.
(författare)
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Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts
- 2019
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Ingår i: Nature Medicine. - : NATURE PUBLISHING GROUP. - 1078-8956 .- 1546-170X. ; 25:6, s. 911-919
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Tidskriftsartikel (refereegranskat)abstract
- It is estimated that 350 million individuals worldwide suffer from rare diseases, which are predominantly caused by mutation in a single gene(1). The current molecular diagnostic rate is estimated at 50%, with whole-exome sequencing (WES) among the most successful approaches(2-5). For patients in whom WES is uninformative, RNA sequencing (RNA-seq) has shown diagnostic utility in specific tissues and diseases(6-8). This includes muscle biopsies from patients with undiagnosed rare muscle disorders(6,9), and cultured fibroblasts from patients with mitochondrial disorders(7). However, for many individuals, biopsies are not performed for clinical care, and tissues are difficult to access. We sought to assess the utility of RNA-seq from blood as a diagnostic tool for rare diseases of different pathophysiologies. We generated whole-blood RNA-seq from 94 individuals with undiagnosed rare diseases spanning 16 diverse disease categories. We developed a robust approach to compare data from these individuals with large sets of RNA-seq data for controls (n = 1,594 unrelated controls and n = 49 family members) and demonstrated the impacts of expression, splicing, gene and variant filtering strategies on disease gene identification. Across our cohort, we observed that RNA-seq yields a 7.5% diagnostic rate, and an additional 16.7% with improved candidate gene resolution.
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| 2. |
- Geach, J.E., et al.
(författare)
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The SCUBA-2 Cosmology Legacy Survey: 850 μm maps, catalogues and number counts
- 2017
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Ingår i: Monthly Notices of the Royal Astronomical Society. - : Oxford University Press (OUP). - 0035-8711 .- 1365-2966. ; 465:2, s. 1789-1806
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Tidskriftsartikel (refereegranskat)abstract
- We present a catalogue of similar to 3000 submillimetre sources detected (>= 3.5 sigma) at 850 mu m over similar to 5 deg(2) surveyed as part of the James Clerk Maxwell Telescope (JCMT) SCUBA-2 Cosmology Legacy Survey (S2CLS). This is the largest survey of its kind at 850 mu m, increasing the sample size of 850 mu m selected submillimetre galaxies by an order of magnitude. The wide 850 mu m survey component of S2CLS covers the extragalactic fields: UKIDSS-UDS, COSMOS, Akari-NEP, Extended Groth Strip, Lockman Hole North, SSA22 and GOODS-North. The average 1s depth of S2CLS is 1.2 mJy beam(-1), approaching the SCUBA-2 850 mu m confusion limit, which we determine to be sigma(c) approximate to 0.8 mJy beam(-1). We measure the 850 mu m number counts, reducing the Poisson errors on the differential counts to approximately 4 per cent at S-850 approximate to 3 mJy. With several independent fields, we investigate field-to-field variance, finding that the number counts on 0.5 degrees-1 degrees scales are generally within 50 per cent of the S2CLS mean for S-850 > 3 mJy, with scatter consistent with the Poisson and estimated cosmic variance uncertainties, although there is a marginal (2 sigma) density enhancement in GOODS-North. The observed counts are in reasonable agreement with recent phenomenological and semi-analytic models, although determining the shape of the faint-end slope (S-850 < 3 mJy) remains a key test. The large solid angle of S2CLS allows us to measure the bright-end counts: at S-850 > 10 mJy there are approximately 10 sources per square degree, and we detect the distinctive up-turn in the number counts indicative of the detection of local sources of 850 mu m emission
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| 3. |
- Geach, J.E., et al.
(författare)
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The SCUBA-2 Cosmology Legacy Survey: blank-field number counts of 450-mu m-selected galaxies and their contribution to the cosmic infrared background
- 2013
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Ingår i: Monthly Notices of the Royal Astronomical Society. - : Oxford University Press (OUP). - 0035-8711 .- 1365-2966. ; 432:1, s. 53-61
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Tidskriftsartikel (refereegranskat)abstract
- The first deep blank-field 450 mu m map (1 sigma approximate to 1.3 mJy) from the Submillimetre Common-User Bolometer Array-2 SCUBA-2 Cosmology Legacy Survey (S2CLS), conducted with the James Clerk Maxwell Telescope (JCMT) is presented. Our map covers 140 arcmin(2) of the Cosmological Evolution Survey field, in the footprint of the Hubble Space Telescope (HST) Cosmic Assembly Near-Infrared Deep Extragalactic Legacy Survey. Using 60 submillimetre galaxies detected at >= 3.75s, we evaluate the number counts of 450-mu m-selected galaxies with flux densities S-450 > 5 mJy. The 8 arcsec JCMT beam and high sensitivity of SCUBA-2 now make it possible to directly resolve a larger fraction of the cosmic infrared background (CIB, peaking at. similar to 200 mu m) into the individual galaxies responsible for its emission than has previously been possible at this wavelength. At S450 > 5 mJy, we resolve (7.4 +/- 0.7) x 10(-2) MJy sr(-1) of the CIB at 450 mu m (equivalent to 16 +/- 7 per cent of the absolute brightness measured by the Cosmic Background Explorer at this wavelength) into point sources. A further similar to 40 per cent of the CIB can be recovered through a statistical stack of 24 mu m emitters in this field, indicating that the majority (approximate to 60 per cent) of the CIB at 450 mu m is emitted by galaxies with S450 > 2 mJy. The average redshift of 450 mu m emitters identified with an optical/near-infrared counterpart is estimated to be = 1.3, implying that the galaxies in the sample are in the ultraluminous class (LIR approximate to 1.1 x 1012 L approximate to). If the galaxies contributing to the statistical stack lie at similar redshifts, then the majority of the CIB at 450 mu m is emitted by galaxies in the luminous infrared galaxy (LIRG) class with LIR > 3.6 x 1011 L-circle dot.
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| 4. |
- Swinbank, A. M., et al.
(författare)
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An ALMA survey of sub-millimetre Galaxies in the Extended Chandra Deep Field South: the far-infrared properties of SMGs
- 2014
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Ingår i: Monthly Notices of the Royal Astronomical Society. - : Oxford University Press (OUP). - 0035-8711 .- 1365-2966. ; 438:2, s. 1267-1287
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Tidskriftsartikel (refereegranskat)abstract
- We exploit Atacama Large Millimeter Array (ALMA) 870 mu m observations of sub-millimetre sources in the Extended Chandra Deep Field South to investigate the far-infrared properties of high-redshift sub-millimetre galaxies (SMGs). Using the precisely located 870 mu m ALMA positions of 99 SMGs, together with 24 mu m and radio imaging, we deblend the Herschel/SPIRE imaging to extract their far-infrared fluxes and colours. The median redshifts for ALMA LESS (ALESS) SMGs which are detected in at least two SPIRE bands increases with wavelength of the peak in their spectral energy distributions (SEDs), with z = 2.3 +/- 0.2, 2.5 +/- 0.3 and 3.5 +/- 0.5 for the 250, 350 and 500 mu m peakers, respectively. 34 ALESS SMGs do not have a >3 sigma counterpart at 250, 350 or 500 mu m. These galaxies have a median photometric redshift derived from the rest-frame UV-mid-infrared SEDs of z = 3.3 +/- 0.5, which is higher than the full ALESS SMG sample; z = 2.5 +/- 0.2. We estimate the far-infrared luminosities and characteristic dust temperature of each SMG, deriving L-IR = (3.0 +/- 0.3) x 10(12) L-circle dot (SFR = 300 +/- 30 M-circle dot yr(-1)) and T-d = 32 +/- 1 K. The characteristic dust temperature of these high-redshift SMGs is Delta T-d = 3-5K lower than comparably luminous galaxies at z = 0, reflecting the more extended star formation in these systems. We show that the contribution of S-870 mu m >= 1 mJy SMGs to the cosmic star formation budget is 20 per cent of the total over the redshift range z similar to 1-4. Adopting an appropriate gas-to-dust ratio, we estimate a typical molecular mass of the ALESS SMGs of M-H2 = (4.2 +/- 0.4) x 10(10) M-circle dot. Finally, we show that SMGs with S-870 mu m > 1 mJy (L-IR greater than or similar to 10(12) L-circle dot) contain similar to 10 per cent of the z similar to 2 volume-averaged H-2 mass density.
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| 5. |
- Coppin, K. E. K., et al.
(författare)
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Herschel-PACS observations of [O I]63 μm towards submillimetre galaxies at z~1
- 2012
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Ingår i: Monthly Notices of the Royal Astronomical Society. - : Oxford University Press (OUP). - 0035-8711 .- 1365-2966. ; 427:1, s. 520-532
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Tidskriftsartikel (refereegranskat)abstract
- We present Herschel-PACS spectroscopy of the [O I]63 μm far-infrared cooling line from a sample of six unlensed and spectroscopically confirmed 870 μm selected submillimetre (submm) galaxies (SMGs) at 1.1
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| 6. |
- Hodge, J. A., et al.
(författare)
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An ALMA Survey of Submillimeter Galaxies in the Extended Chandra Deep Field South: Source Catalog and Multiplicity
- 2013
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Ingår i: Astrophysical Journal. - 1538-4357 .- 0004-637X. ; 768:1
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Tidskriftsartikel (refereegranskat)abstract
- We present an Atacama Large Millimeter/submillimeter Array (ALMA) Cycle 0 survey of 126 submillimeter sources from the LABOCA ECDFS Submillimeter Survey (LESS). Our 870 mu m survey with ALMA (ALESS) has produced maps similar to 3x deeper and with a beam area similar to 200x smaller than the original LESS observations, doubling the current number of interferometrically-observed submillimeter sources. The high resolution of these maps allows us to resolve sources that were previously blended and accurately identify the origin of the submillimeter emission. We discuss the creation of the ALESS submillimeter galaxy (SMG) catalog, including the main sample of 99 SMGs and a supplementary sample of 32 SMGs. We find that at least 35% (possibly up to 50%) of the detected LABOCA sources have been resolved into multiple SMGs, and that the average number of SMGs per LESS source increases with LESS flux density. Using the (now precisely known) SMG positions, we empirically test the theoretical expectation for the uncertainty in the single-dish source positions. We also compare our catalog to the previously predicted radio/mid-infrared counterparts, finding that 45% of the ALESS SMGs were missed by this method. Our similar to 1 ''.6 resolution allows us to measure a size of similar to 9 kpc x 5 kpc for the rest-frame similar to 300 mu m emission region in one resolved SMG, implying a star formation rate surface density of 80 M-circle dot yr(-1) kpc(-2), and we constrain the emission regions in the remaining SMGs to be
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| 7. |
- Rex, M., et al.
(författare)
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The far-infrared/submillimeter properties of galaxies located behind the Bullet cluster
- 2010
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Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 518:Article Number: L13
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Tidskriftsartikel (refereegranskat)abstract
- The Herschel Lensing Survey (HLS) takes advantage of gravitational lensing by massive galaxy clusters to sample a population of high-redshift galaxies which are too faint to be detected above the confusion limit of current far-infrared/submillimeter telescopes. Measurements from 100-500 mu m bracket the peaks of the far-infrared spectral energy distributions of these galaxies, characterizing their infrared luminosities and star formation rates. We introduce initial results from our science demonstration phase observations, directed toward the Bullet cluster (1E0657-56). By combining our observations with LABOCA 870 mu m and AzTEC 1.1 mm data we fully constrain the spectral energy distributions of 19 MIPS 24 mu m-selected galaxies which are located behind the cluster. We find that their colors are best fit using templates based on local galaxies with systematically lower infrared luminosities. This suggests that our sources are not like local ultra-luminous infrared galaxies in which vigorous star formation is contained in a compact highly dust-obscured region. Instead, they appear to be scaled up versions of lower luminosity local galaxies with star formation occurring on larger physical scales.
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| 8. |
- Simpson, J. M., et al.
(författare)
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AN ALMA SURVEY OF SUBMILLIMETER GALAXIES IN THE EXTENDED CHANDRA DEEP FIELD SOUTH: THE REDSHIFT DISTRIBUTION AND EVOLUTION OF SUBMILLIMETER GALAXIES
- 2014
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Ingår i: Astrophysical Journal. - : American Astronomical Society. - 1538-4357 .- 0004-637X. ; 788:2
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Tidskriftsartikel (refereegranskat)abstract
- We present the first photometric redshift distribution for a large sample of 870 mu m submillimeter galaxies (SMGs) with robust identifications based on observations with ALMA. In our analysis we consider 96 SMGs in the Extended Chandra Deep Field South, 77 of which have 4-19 band photometry. We model the SEDs for these 77 SMGs, deriving a median photometric redshift of z(phot) = 2.3 +/- 0.1. The remaining 19 SMGs have insufficient photometry to derive photometric redshifts, but a stacking analysis of Herschel observations confirms they are not spurious. Assuming that these SMGs have an absolute H-band magnitude distribution comparable to that of a complete sample of z similar to 1-2 SMGs, we demonstrate that they lie at slightly higher redshifts, raising the median redshift for SMGs to zphot = 2.5 +/- 0.2. Critically we show that the proportion of galaxies undergoing an SMG-like phase at z >= 3 is at most 35% +/- 5% of the total population. We derive a median stellar mass of M star = (8 +/- 1) x 10(10) M circle dot, although there are systematic uncertainties of up to 5 x for individual sources. Assuming that the star formation activity in SMGs has a timescale of similar to 100 Myr, we show that their descendants at z similar to 0 would have a space density and MH distribution that are in good agreement with those of local ellipticals. In addition, the inferred mass-weighted ages of the local ellipticals broadly agree with the look-back times of the SMG events. Taken together, these results are consistent with a simple model that identifies SMGs as events that form most of the stars seen in the majority of luminous elliptical galaxies at the present day.
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| 9. |
- Chen, C. T.J., et al.
(författare)
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The XMM-SERVS survey : New XMM-Newton point-source catalogue for the XMM-LSS field
- 2018
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Ingår i: Monthly Notices of the Royal Astronomical Society. - : Oxford University Press (OUP). - 0035-8711 .- 1365-2966. ; 478:2, s. 2132-2163
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Tidskriftsartikel (refereegranskat)abstract
- We present an X-ray point-source catalogue from the XMM-Large Scale Structure (XMMLSS) survey region, one of the XMM-Spitzer Extragalactic Representative Volume Survey (XMM-SERVS) fields. We target the XMM-LSS region with 1.3 Ms of new XMM-Newton AO-15 observations, transforming the archival X-ray coverage in this region into a 5.3 deg2 contiguous field with uniform X-ray coverage totaling 2.7 Ms of flare-filtered exposure, with a 46 ks median PN exposure time. We provide an X-ray catalogue of 5242 sources detected in the soft (0.5-2 keV), hard (2-10 keV), and/or full (0.5-10 keV) bands with a 1 per cent expected spurious fraction determined from simulations. A total of 2381 new X-ray sources are detected compared to previous source catalogues in the same area. Our survey has flux limits of 1.7 × 10-15, 1.3 × 10-14, and 6.5 × 10-15 erg cm-2 s-1 over 90 per cent of its area in the soft, hard, and full bands, respectively, which is comparable to those of the XMM-COSMOS survey. We identify multiwavelength counterpart candidates for 99.9 per cent of the X-ray sources, of which 93 per cent are considered as reliable based on their matching likelihood ratios. The reliabilities of these high-likelihood-ratio counterparts are further confirmed to be ≈97 per cent reliable based on deep Chandra coverage over ≈5 per cent of the XMM-LSS region. Results of multiwavelength identifications are also included in the source catalogue, along with basic optical-to-infrared photometry and spectroscopic redshifts from publicly available surveys. We compute photometric redshifts for X-ray sources in 4.5 deg2 of our field where forced-aperture multiband photometry is available; > 70 per cent of the X-ray sources in this subfield have either spectroscopic or high-quality photometric redshifts.
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| 10. |
- Decarli, R., et al.
(författare)
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An Alma Survey of Sub-Millimeter Galaxies in the Extended Chandra Deep Field South: Sub-Millimeter Properties of Color-Selected Galaxies
- 2014
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Ingår i: Astrophysical Journal. - 1538-4357 .- 0004-637X. ; 780:2
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Tidskriftsartikel (refereegranskat)abstract
- We study the sub-millimeter properties of color-selected galaxies via a stacking analysis applied for the first time to interferometric data at sub-millimeter wavelengths. We base our study on 344 GHz ALMA continuum observations of similar to 20 ''-wide fields centered on 86 sub-millimeter sources detected in the LABOCA Extended Chandra Deep Field South (ECDFS) Sub-millimeter Survey. We select various classes of galaxies (K-selected, star-forming sBzK galaxies, extremely red objects, and distant red galaxies) according to their optical/near-infrared fluxes. We find clear, >10 sigma detections in the stacked images of all these galaxy classes. We include in our stacking analysis Herschel/SPIRE data to constrain the dust spectral energy distribution of these galaxies. We find that their dust emission is well described by a modified blackbody with T-dust approximate to 30 K and beta = 1.6 and infrared luminosities of (5-11) x 10(11) L-circle dot or implied star formation rates of 75-140 M-circle dot yr(-1). We compare our results with those of previous studies based on single-dish observations at 870 mu m and find that our flux densities are a factor 2-3 higher than previous estimates. The discrepancy is observed also after removing sources individually detected in ALESS maps. We report a similar discrepancy by repeating our analysis on 1.4 GHz observations of the whole ECDFS. Hence, we find tentative evidence that galaxies that are associated in projected and redshift space with sub-mm bright sources are brighter than the average population. Finally, we put our findings in the context of the cosmic star formation rate density as a function of redshift.
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