| 1. |
- Glasbey, JC, et al.
(författare)
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- 2021
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swepub:Mat__t
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| 2. |
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| 3. |
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| 4. |
- Craddock, Nick, et al.
(författare)
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Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls
- 2010
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 464:7289, s. 713-720
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Tidskriftsartikel (refereegranskat)abstract
- Copy number variants (CNVs) account for a major proportion of human genetic polymorphism and have been predicted to have an important role in genetic susceptibility to common disease. To address this we undertook a large, direct genome-wide study of association between CNVs and eight common human diseases. Using a purpose-designed array we typed,19,000 individuals into distinct copy-number classes at 3,432 polymorphic CNVs, including an estimated similar to 50% of all common CNVs larger than 500 base pairs. We identified several biological artefacts that lead to false-positive associations, including systematic CNV differences between DNAs derived from blood and cell lines. Association testing and follow-up replication analyses confirmed three loci where CNVs were associated with disease-IRGM for Crohn's disease, HLA for Crohn's disease, rheumatoid arthritis and type 1 diabetes, and TSPAN8 for type 2 diabetes-although in each case the locus had previously been identified in single nucleotide polymorphism (SNP)-based studies, reflecting our observation that most common CNVs that are well-typed on our array are well tagged by SNPs and so have been indirectly explored through SNP studies. We conclude that common CNVs that can be typed on existing platforms are unlikely to contribute greatly to the genetic basis of common human diseases.
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| 5. |
- Bousquet, Jean, et al.
(författare)
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ARIA digital anamorphosis : Digital transformation of health and care in airway diseases from research to practice
- 2021
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Ingår i: Allergy. European Journal of Allergy and Clinical Immunology. - : John Wiley & Sons. - 0105-4538 .- 1398-9995. ; 76:1, s. 168-190
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Forskningsöversikt (refereegranskat)abstract
- Digital anamorphosis is used to define a distorted image of health and care that may be viewed correctly using digital tools and strategies. MASK digital anamorphosis represents the process used by MASK to develop the digital transformation of health and care in rhinitis. It strengthens the ARIA change management strategy in the prevention and management of airway disease. The MASK strategy is based on validated digital tools. Using the MASK digital tool and the CARAT online enhanced clinical framework, solutions for practical steps of digital enhancement of care are proposed.
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| 6. |
- Schiavon, Ricardo P., et al.
(författare)
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The APOGEE value-added catalogue of Galactic globular cluster stars
- 2024
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Ingår i: Monthly notices of the Royal Astronomical Society. - : Oxford University Press. - 0035-8711 .- 1365-2966. ; 528:2, s. 1393-1407
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Tidskriftsartikel (refereegranskat)abstract
- We introduce the Sloan Digital Sky Survey (SDSS)/ Apache Point Observatory Galactic Evolution Experiment (APOGEE) value-added catalogue of Galactic globular cluster (GC) stars. The catalogue is the result of a critical search of the APOGEE Data Release 17 (DR17) catalogue for candidate members of all known Galactic GCs. Candidate members are assigned to various GCs on the basis of position in the sky, proper motion, and radial velocity. The catalogue contains a total of 7737 entries for 6422 unique stars associated with 72 Galactic GCs. Full APOGEE DR17 information is provided, including radial velocities and abundances for up to 20 elements. Membership probabilities estimated on the basis of precision radial velocities are made available. Comparisons with chemical compositions derived from the GALactic Archaeology with HERMES (GALAH) survey, as well as optical values from the literature, show good agreement. This catalogue represents a significant increase in the public data base of GC star chemical compositions and kinematics, providing a massive homogeneous data set that will enable a variety of studies. The catalogue in fits format is available for public download from the SDSS-IV DR17 value-added catalogue website.
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| 7. |
- Phillips, Sian G., et al.
(författare)
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APOGEE detection of N-rich stars in the tidal tails of Palomar 5
- 2022
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Ingår i: Monthly notices of the Royal Astronomical Society. - : Oxford University Press. - 0035-8711 .- 1365-2966. ; 510:3, s. 3727-3733
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Tidskriftsartikel (refereegranskat)abstract
- Recent results from chemical tagging studies using Apache Point Observatory Galactic Evolution Experiment data suggest a strong link between the chemical abundance patterns of stars found within globular clusters (GC), and chemically peculiar populations in the Galactic halo field. In this paper, we analyse the chemical compositions of stars within the cluster body and tidal streams of Palomar 5, a GC that is being tidally disrupted by interaction with the Galactic gravitational potential. We report the identification of nitrogen-rich (N-rich) stars both within and beyond the tidal radius of Palomar 5, with the latter being clearly aligned with the cluster tidal streams; this acts as confirmation that N-rich stars are lost to the Galactic halo from GCs, and provides support to the hypothesis that field N-rich stars identified by various groups have a GC origin.
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