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- 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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| 2. |
- Cunningham, Joanne, et al.
(författare)
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Radiation Oncology Safety Information System (ROSIS) - Profiles of participants and the first 1074 incident reports
- 2010
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Ingår i: Radiotherapy and Oncology. - : Elsevier BV. - 1879-0887 .- 0167-8140. ; 97:3, s. 601-607
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Tidskriftsartikel (refereegranskat)abstract
- Background and purpose: The Radiation Oncology Safety Information System (ROSIS) was established in 2001. The aim of ROSIS is to collate and share information on incidents and near-incidents in radiotherapy, and to learn from these incidents in the context of departmental infrastructure and procedures. Materials and methods: A voluntary web-based cross-organisational and international reporting and learning system was developed (cf. the www.rosis.info website). Data is collected via online Department Description and Incident Report Forms. A total of 101 departments, and 1074 incident reports are reviewed. Results: The ROSIS departments represent about 150,000 patients, 343 megavoltage (MV) units, and 114 brachytherapy units. On average, there are 437 patients per MV unit, 281 per radiation oncologist, 387 per physicist and 353 per radiation therapy technologist (RT/RTT). Only 14 departments have a completely networked system of electronic data transfer, while 10 departments have no electronic data transfer. On average seven quality assurance (QA) or quality control (QC) methods are used at each department. A total of 1074 ROSIS reports are analysed; 97.7% relate to external beam radiation treatment and 50% resulted in incorrect irradiation. Many incidents arise during pre-treatment but are not detected until later in the treatment process. Where an incident is not detected prior to treatment, an average of 22% of the prescribed treatment fractions were delivered incorrectly. The most commonly reported detection methods were "found at time of patient treatment" and during "chart-check". Conclusion: While the majority of the incidents that reported to this international cross-organisational reporting system are of minor dosimetric consequence, they affect on average more than 20% of the patient's treatment fractions. Nonetheless, defence-in-depth is apparent in departments registered with ROSIS. This indicates a need for further evaluation of the effectiveness of quality controls. (C) 2010 Published by Elsevier Ireland Ltd. Radiotherapy and Oncology 97 (2010) 601-607
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