| 1. |
- Fresard, Laure, et al.
(författare)
-
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts
- 2019
-
Ingår i: Nature Medicine. - : NATURE PUBLISHING GROUP. - 1078-8956 .- 1546-170X. ; 25:6, s. 911-919
-
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.
|
|
| 2. |
- Meixner, Margaret, et al.
(författare)
-
Herschel and ALMA measurements of dust and molecules in supernova 1987A
- 2013
-
Ingår i: Proceedings of Science. - 1824-8039. ; Part F113823
-
Konferensbidrag (refereegranskat)abstract
- Dust production by supernovae is important in the dust life cycle of a galaxy. The explosion of SN 1987A was the nearest SN detected in the last 400 years, allowing us detailed studies of contemporary evolution of a supernova for the first time. In 2011, Matsuura et al. reported 0.4-0.7 M of dust in SN 1987A based on Herschel HERITAGE survey data, which is surprisingly large compared to prior measurements of supernovae. In this paper, we present our follow-up studies of this important discovery about SN 1987A using the Herschel Space Observatory and the Atacama Large Millimeter Array (ALMA). We highlight two important results, the detection of cold molecular gas and dust in the ejected material of SN 1987A. Our results suggest that SNe are significant producers of dust and molecules, as well as heavy elements, driving chemical evolution of galaxies.
|
|
| 3. |
- Abellán, F. J., et al.
(författare)
-
Very Deep inside the SN 1987A Core Ejecta : Molecular Structures Seen in 3D
- 2017
-
Ingår i: Astrophysical Journal Letters. - : Institute of Physics Publishing. - 2041-8205 .- 2041-8213. ; 842:2
-
Tidskriftsartikel (refereegranskat)abstract
- Most massive stars end their lives in core-collapse supernova explosions and enrich the interstellar medium with explosively nucleosynthesized elements. Following core collapse, the explosion is subject to instabilities as the shock propagates outward through the progenitor star. Observations of the composition and structure of the innermost regions of a core-collapse supernova provide a direct probe of the instabilities and nucleosynthetic products. SN 1987A in the Large Magellanic Cloud is one of very few supernovae for which the inner ejecta can be spatially resolved but are not yet strongly affected by interaction with the surroundings. Our observations of SN 1987A with the Atacama Large Millimeter/submillimeter Array are of the highest resolution to date and reveal the detailed morphology of cold molecular gas in the innermost regions of the remnant. The 3D distributions of carbon and silicon monoxide (CO and SiO) emission differ, but both have a central deficit, or torus-like distribution, possibly a result of radioactive heating during the first weeks ("nickel heating"). The size scales of the clumpy distribution are compared quantitatively to models, demonstrating how progenitor and explosion physics can be constrained.
|
|
| 4. |
- Indebetouw, R., et al.
(författare)
-
DUST PRODUCTION AND PARTICLE ACCELERATION IN SUPERNOVA 1987A REVEALED WITH ALMA
- 2014
-
Ingår i: The Astrophysical Journal Letters. - : Institute of Physics (IOP). - 2041-8205. ; 782:1, s. L2-
-
Tidskriftsartikel (refereegranskat)abstract
- Supernova (SN) explosions are crucial engines driving the evolution of galaxies by shock heating gas, increasing the metallicity, creating dust, and accelerating energetic particles. In 2012 we used the Atacama Large Millimeter/Submillimeter Array to observe SN 1987A, one of the best-observed supernovae since the invention of the telescope. We present spatially resolved images at 450 mu m, 870 mu m, 1.4 mm, and 2.8 mm, an important transition wavelength range. Longer wavelength emission is dominated by synchrotron radiation from shock-accelerated particles, shorter wavelengths by emission from the largest mass of dust measured in a supernova remnant (>0.2 M-circle dot). For the first time we show unambiguously that this dust has formed in the inner ejecta (the cold remnants of the exploded star's core). The dust emission is concentrated at the center of the remnant, so the dust has not yet been affected by the shocks. If a significant fraction survives, and if SN 1987A is typical, supernovae are important cosmological dust producers.
|
|
| 5. |
- Indebetouw, R., et al.
(författare)
-
DUST PRODUCTION AND PARTICLE ACCELERATION IN SUPERNOVA 1987A REVEALED WITH ALMA
- 2014
-
Ingår i: Astrophysical Journal Letters. - : American Astronomical Society. - 2041-8213 .- 2041-8205. ; 782:1, s. 6-
-
Tidskriftsartikel (refereegranskat)abstract
- Supernova (SN) explosions are crucial engines driving the evolution of galaxies by shock heating gas, increasing the metallicity, creating dust, and accelerating energetic particles. In 2012 we used the Atacama Large Millimeter/Submillimeter Array to observe SN 1987A, one of the best-observed supernovae since the invention of the telescope. We present spatially resolved images at 450 mu m, 870 mu m, 1.4 mm, and 2.8 mm, an important transition wavelength range. Longer wavelength emission is dominated by synchrotron radiation from shock-accelerated particles, shorter wavelengths by emission from the largest mass of dust measured in a supernova remnant (>0.2 M-circle dot). For the first time we show unambiguously that this dust has formed in the inner ejecta (the cold remnants of the exploded star's core). The dust emission is concentrated at the center of the remnant, so the dust has not yet been affected by the shocks. If a significant fraction survives, and if SN 1987A is typical, supernovae are important cosmological dust producers.
|
|
| 6. |
- Kamenetzky, J., et al.
(författare)
-
CARBON MONOXIDE IN THE COLD DEBRIS OF SUPERNOVA 1987A
- 2013
-
Ingår i: ASTROPHYS J LETT. - 2041-8205. ; 773:2, s. L34-
-
Tidskriftsartikel (refereegranskat)abstract
- We report spectroscopic and imaging observations of rotational transitions of cold CO and SiO in the ejecta of SN1987A, the first such emission detected in a supernova remnant. In addition to line luminosities for the CO J = 1-0, 2-1, 6-5, and 7-6 transitions, we present upper limits for all other transitions up to J = 13-12, collectively measured from the Atacama Large Millimeter Array, the Atacama Pathfinder EXperiment, and the Herschel Spectral and Photometric Imaging REceiver. Simple models show the lines are emitted from at least 0.01 M-circle dot of CO at a temperature >14 K, confined within at most 35% of a spherical volume expanding at similar to 2000 km s(-1). Moreover, we locate the emission within 1 '' of the central debris. These observations, along with a partial observation of SiO, confirm the presence of cold molecular gas within supernova remnants and provide insight into the physical conditions and chemical processes in the ejecta. Furthermore, we demonstrate the powerful new window into supernova ejecta offered by submillimeter observations.
|
|
| 7. |
- Kamenetzky, J., et al.
(författare)
-
CARBON MONOXIDE IN THE COLD DEBRIS OF SUPERNOVA 1987A
- 2013
-
Ingår i: Astrophysical Journal Letters. - : American Astronomical Society. - 2041-8213 .- 2041-8205. ; 773:2
-
Tidskriftsartikel (refereegranskat)abstract
- We report spectroscopic and imaging observations of rotational transitions of cold CO and SiO in the ejecta of SN1987A, the first such emission detected in a supernova remnant. In addition to line luminosities for the CO J = 1-0, 2-1, 6-5, and 7-6 transitions, we present upper limits for all other transitions up to J = 13-12, collectively measured from the Atacama Large Millimeter Array, the Atacama Pathfinder EXperiment, and the Herschel Spectral and Photometric Imaging REceiver. Simple models show the lines are emitted from at least 0.01 M-circle dot of CO at a temperature >14 K, confined within at most 35% of a spherical volume expanding at similar to 2000 km s(-1). Moreover, we locate the emission within 1 '' of the central debris. These observations, along with a partial observation of SiO, confirm the presence of cold molecular gas within supernova remnants and provide insight into the physical conditions and chemical processes in the ejecta. Furthermore, we demonstrate the powerful new window into supernova ejecta offered by submillimeter observations.
|
|
| 8. |
- Larsson, Josefin, et al.
(författare)
-
THREE-DIMENSIONAL DISTRIBUTION OF EJECTA IN SUPERNOVA 1987A AT 10,000 DAYS
- 2016
-
Ingår i: Astrophysical Journal. - : Institute of Physics Publishing (IOPP). - 0004-637X .- 1538-4357. ; 833:2
-
Tidskriftsartikel (refereegranskat)abstract
- Due to its proximity, SN. 1987A offers a unique opportunity to directly observe the geometry of a stellar explosion as it unfolds. Here we present spectral and imaging observations of SN. 1987A obtained similar to 10,000 days after the explosion with HST/STIS and VLT/SINFONI at optical and near-infrared wavelengths. These observations allow us to produce the most detailed 3D map of Ha to date, the first 3D maps for [Ca II] lambda lambda 7292, 7324, [O I] lambda lambda 6300, 6364, and Mg. II lambda lambda 9218, 9244, as well as new maps for [Si I]+[Fe II] 1.644 mu m and He I 2.058 mu m. A comparison with previous observations shows that the [Si I]+[Fe II] flux and morphology have not changed significantly during the past ten years, providing evidence that this line is powered by Ti-44. The time evolution of Ha shows that it is predominantly powered by X-rays from the ring, in agreement with previous findings. All lines that have sufficient signal show a similar large-scale 3D structure, with a north-south asymmetry that resembles a broken dipole. This structure correlates with early observations of asymmetries, showing that there is a global asymmetry that extends from the inner core to the outer envelope. On smaller scales, the two brightest lines, Ha and [Si I]+[Fe II] 1.644 mu m, show substructures at the level of similar to 200-1000 km s(-1) and clear differences in their 3D geometries. We discuss these results in the context of explosion models and the properties of dust in the ejecta.
|
|
| 9. |
- Larsson, Josefin, et al.
(författare)
-
X-ray illumination of the ejecta of supernova 1987A
- 2011
-
Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 474:7352, s. 484-486
-
Tidskriftsartikel (refereegranskat)abstract
- When a massive star explodes as a supernova, substantial amounts of radioactive elements-primarily (56)Ni, (57)Ni and (44)Ti-are produced(1). After the initial flash of light from shock heating, the fading light emitted by the supernova is due to the decay of these elements(2). However, after decades, the energy powering a supernova remnant comes from the shock interaction between the ejecta and the surrounding medium(3). The transition to this phase has hitherto not been observed: supernovae occur too infrequently in the Milky Way to provide a young example, and extragalactic supernovae are generally too faint and too small. Here we report observations that show this transition in the supernova SN 1987A in the Large Magellanic Cloud. From 1994 to 2001, the ejecta faded owing to radioactive decay of (44)Ti as predicted. Then the flux started to increase, more than doubling by the end of 2009. We show that this increase is the result of heat deposited by X-rays produced as the ejecta interacts with the surrounding material. In time, the X-rays will penetrate farther into the ejecta, enabling us to analyse the structure and chemistry of the vanished star.
|
|
| 10. |
- Matsuura, M., et al.
(författare)
-
ALMA observations of Molecules in Supernova 1987A
- 2017
-
Ingår i: Proceedings of the International Astronomical Union. - : Cambridge University Press. - 1743-9213 .- 1743-9221. ; :S331, s. 294-299
-
Tidskriftsartikel (refereegranskat)abstract
- Supernova (SN) 1987A has provided a unique opportunity to study how SN ejecta evolve in 30 years time scale. We report our ALMA spectral observations of SN 1987A, taken in 2014, 2015 and 2016, with detections of CO, 28SiO, HCO+ and SO, with weaker lines of 29SiO. We find a dip in the SiO line profiles, suggesting that the ejecta morphology is likely elongated. The difference of the CO and SiO line profiles is consistent with hydrodynamic simulations, which show that Rayleigh-Taylor instabilities causes mixing of gas, with heavier elements much more disturbed, making more elongated structure. Using 28SiO and its isotopologues, Si isotope ratios were estimated for the first time in SN 1987A. The estimated ratios appear to be consistent with theoretical predictions of inefficient formation of neutron rich atoms at lower metallicity, such as observed in the Large Magellanic Cloud (about half a solar metallicity). The deduced large HCO+ mass and small SiS mass, which are inconsistent to the predictions of chemical model, might be explained by some mixing of elements immediately after the explosion. The mixing might have made some hydrogen from the envelope to sink into carbon and oxygen-rich zone during early days after the explosion, enabling the formation of a substantial mass of HCO+. Oxygen atoms may penetrate into silicon and sulphur zone, suppressing formation of SiS. Our ALMA observations open up a new window to investigate chemistry, dynamics and explosive-nucleosynthesis in supernovae.
|
|
