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| 2. |
- Weiner, D. J., et al.
(författare)
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Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders
- 2017
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 49:7
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Tidskriftsartikel (refereegranskat)abstract
- Autism spectrum disorder (ASD) risk is influenced by common polygenic and de novo variation. We aimed to clarify the influence of polygenic risk for ASD and to identify subgroups of ASD cases, including those with strongly acting de novo variants, in which polygenic risk is relevant. Using a novel approach called the polygenic transmission disequilibrium test and data from 6,454 families with a child with ASD, we show that polygenic risk for ASD, schizophrenia, and greater educational attainment is over-transmitted to children with ASD. These findings hold independent of proband IQ. We find that polygenic variation contributes additively to risk in ASD cases who carry a strongly acting de novo variant. Lastly, we show that elements of polygenic risk are independent and differ in their relationship with phenotype. These results confirm that the genetic influences on ASD are additive and suggest that they create risk through at least partially distinct etiologic pathways.
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| 3. |
- Anney, R. J. L., et al.
(författare)
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Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia
- 2017
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Ingår i: Molecular Autism. - : Springer Science and Business Media LLC. - 2040-2392. ; 8
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Tidskriftsartikel (refereegranskat)abstract
- Background: Over the past decade genome-wide association studies (GWAS) have been applied to aid in the understanding of the biology of traits. The success of this approach is governed by the underlying effect sizes carried by the true risk variants and the corresponding statistical power to observe such effects given the study design and sample size under investigation. Previous ASD GWAS have identified genome-wide significant (GWS) risk loci; however, these studies were of only of low statistical power to identify GWS loci at the lower effect sizes (odds ratio (OR) < 1.15). Methods: We conducted a large-scale coordinated international collaboration to combine independent genotyping data to improve the statistical power and aid in robust discovery of GWS loci. This study uses genome-wide genotyping data from a discovery sample (7387 ASD cases and 8567 controls) followed by meta-analysis of summary statistics from two replication sets (7783 ASD cases and 11359 controls; and 1369 ASD cases and 137308 controls). Results: We observe a GWS locus at 10q24.32 that overlaps several genes including PITX3, which encodes a transcription factor identified as playing a role in neuronal differentiation and CUEDC2 previously reported to be associated with social skills in an independent population cohort. We also observe overlap with regions previously implicated in schizophrenia which was further supported by a strong genetic correlation between these disorders (Rg = 0.23; P= 9 x10(-6)). We further combined these Psychiatric Genomics Consortium (PGC) ASD GWAS data with the recent PGC schizophrenia GWAS to identify additional regions which may be important in a common neurodevelopmental phenotype and identified 12 novel GWS loci. These include loci previously implicated in ASD such as FOXP1 at 3p13, ATP2B2 at 3p25.3, and a 'neurodevelopmental hub' on chromosome 8p11.23. Conclusions: This study is an important step in the ongoing endeavour to identify the loci which underpin the common variant signal in ASD. In addition to novel GWS loci, we have identified a significant genetic correlation with schizophrenia and association of ASD with several neurodevelopmental- related genes such as EXT1, ASTN2, MACROD2, and HDAC4.
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| 6. |
- Ueta, T., et al.
(författare)
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Herschel Planetary Nebula Survey (HerPlaNS)
- 2014
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Ingår i: Asymmetrical Planetary Nebulae VI conference, Proceedings of the conference held 4-8 November, 2013. ; , s. 106-
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Konferensbidrag (övrigt vetenskapligt/konstnärligt)abstract
- The Herschel Planetary Nebula Survey (HerPlaNS) is one of the largest Open Time programs carried out by the Herschel Space Observatory, by which we simultaneously probe the dust and gas components of the circumstellar environments of evolved stars. HerPlaNS is part of a community-wide panchromatic (from X-ray to Radio) observational initiative to furnish substantial PN data resources that would allow us - PN astronomers - to tackle a multitude of issues in PN physics. In this contribution we will give a general overview of the survey and a glimpse of what the data can tell us using NGC 6781 as an example.
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| 7. |
- Ueta, T., et al.
(författare)
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The Herschel Planetary Nebula Survey (HerPlaNS) I. Data overview and analysis demonstration with NGC 6781
- 2014
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Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 565, s. A36-
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Tidskriftsartikel (refereegranskat)abstract
- Context. This is the first of a series of investigations into far-IR characteristics of 11 planetary nebulae (PNe) under the Herschel Space Observatory open time 1 program, Herschel Planetary Nebula Survey (HerPlaNS). Aims. Using the HerPlaNS data set, we look into the PN energetics and variations of the physical conditions within the target nebulae. In the present work, we provide an overview of the survey, data acquisition and processing, and resulting data products. Methods. We performed (1) PACS/SPIRE broadband imaging to determine the spatial distribution of the cold dust component in the target PNe and (2) PACS/SPIRE spectral-energy-distribution and line spectroscopy to determine the spatial distribution of the gas component in the target PNe. Results. For the case of NGC 6781, the broadband maps confirm the nearly pole-on barrel structure of the amorphous carbon-rich dust shell and the surrounding halo having temperatures of 26-40 K. The PACS/SPIRE multiposition spectra show spatial variations of far-.IR lines that reflect the physical stratification of the nebula. We demonstrate that spatially resolved far-IR line diagnostics yield the (T-e, n(e)) profiles, from which distributions of ionized, atomic, and molecular gases can be determined. Direct comparison of the dust and gas column mass maps constrained by the HerPlaNS data allows to construct an empirical gas-to-dust mass ratio map, which shows a range of ratios with the median of 195 +/- 110. The present analysis yields estimates of the total mass of the shell to be 0.86 M-circle dot, consisting of 0.54 M-circle dot of ionized gas, 0.12 M-circle dot of atomic gas, 0.2 M-circle dot of molecular gas, and 4 x 10(-3) M-circle dot of dust grains. These estimates' also suggest that the central star of about 1.5 M-circle dot initial mass is terminating its PN evolution onto the white dwarf cooling track. Conclusions. The HerPlaNS data provide various diagnostics for both the dust and gas components in a spatially resolved manner. In the forthcoming papers of the HerPlaNS series we will explore the HerPlaNS data set fully for the entire sample of 11 PNe.
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| 8. |
- Ueta, T., et al.
(författare)
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Planetary Nebula dust haloes revealed by Herschel
- 2013
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Ingår i: Proceedings of Science. - Trieste, Italy : Sissa Medialab. - 1824-8039.
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Konferensbidrag (refereegranskat)abstract
- Herschel Planetary Nebula Survey (HerPlaNS) is a far-IR imaging and spectroscopic survey of planetary nebulae, performedwith the Herschel Space Observatory, aiming at (1) establishing the spatially-resolved far-IR characteristics of the target nebulae and (2) understanding the energetics and shaping history of the circumstellar nebulae. Below we briefly demonstrate the breadth and depth of the HerPlaNS data set using one of the targets, NGC6781, as an example, and explore expectations in the era of SPICA, the next-generation far-IR mission.
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| 9. |
- Leisawitz, David, et al.
(författare)
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Origins Space Telescope: Baseline mission concept
- 2021
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Ingår i: Journal of Astronomical Telescopes, Instruments, and Systems. - 2329-4221 .- 2329-4124. ; 7:1
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Tidskriftsartikel (refereegranskat)abstract
- The Origins Space Telescope will trace the history of our origins from the time dust and heavy elements permanently altered the cosmic landscape to present-day life. How did galaxies evolve from the earliest galactic systems to those found in the Universe today? How do habitable planets form? How common are life-bearing worlds? To answer these alluring questions, Origins will operate at mid-and far-infrared (IR) wavelengths and offer powerful spectroscopic instruments and sensitivity three orders of magnitude better than that of the Herschel Space Observatory, the largest telescope flown in space to date. We describe the baseline concept for Origins recommended to the 2020 US Decadal Survey in Astronomy and Astrophysics. The baseline design includes a 5.9-m diameter telescope cryocooled to 4.5 K and equipped with three scientific instruments. A mid-infrared instrument (Mid-Infrared Spectrometer and Camera Transit spectrometer) will measure the spectra of transiting exoplanets in the 2.8 to 20 μm wavelength range and offer unprecedented spectrophotometric precision, enabling definitive exoplanet biosignature detections. The far-IR imager polarimeter will be able to survey thousands of square degrees with broadband imaging at 50 and 250 μm. The Origins Survey Spectrometer will cover wavelengths from 25 to 588 μm, making wide-area and deep spectroscopic surveys with spectral resolving power R ∼ 300, and pointed observations at R ∼ 40,000 and 300,000 with selectable instrument modes. Origins was designed to minimize complexity. The architecture is similar to that of the Spitzer Space Telescope and requires very few deployments after launch, while the cryothermal system design leverages James Webb Space Telescope technology and experience. A combination of current-state-of-the-art cryocoolers and next-generation detector technology will enable Origins' natural background-limited sensitivity.
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| 10. |
- Leisawitz, David, et al.
(författare)
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The origins space telescope
- 2019
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Ingår i: Proceedings of SPIE - The International Society for Optical Engineering. - : SPIE. - 0277-786X .- 1996-756X. ; 11115
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Konferensbidrag (refereegranskat)abstract
- The Origins Space Telescope will trace the history of our origins from the time dust and heavy elements permanently altered the cosmic landscape to present-day life. How did galaxies evolve from the earliest galactic systems to those found in the universe today? How do habitable planets form? How common are life-bearing worlds? To answer these alluring questions, Origins will operate at mid-and far-infrared wavelengths and offer powerful spectroscopic instruments and sensitivity three orders of magnitude better than that of Herschel, the largest telescope flown in space to date. After a 3 1/2 year study, the Origins Science and Technology Definition Team will recommend to the Decadal Survey a concept for Origins with a 5.9-m diameter telescope cryocooled to 4.5 K and equipped with three scientific instruments. A mid-infrared instrument (MISC-T) will measure the spectra of transiting exoplanets in the 2.8-20 μm wavelength range and offer unprecedented sensitivity, enabling definitive biosignature detections. The Far-IR Imager Polarimeter (FIP) will be able to survey thousands of square degrees with broadband imaging at 50 and 250 μm. The Origins Survey Spectrometer (OSS) will cover wavelengths from 25-588 μm, make wide-area and deep spectroscopic surveys with spectral resolving power R ∼ 300, and pointed observations at R ∼ 40,000 and 300,000 with selectable instrument modes. Origins was designed to minimize complexity. The telescope has a Spitzer-like architecture and requires very few deployments after launch. The cryo-thermal system design leverages JWST technology and experience. A combination of current-state-of-the-art cryocoolers and next-generation detector technology will enable Origins' natural backgroundlimited sensitivity.
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