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- Thompson, B.A., et al.
(författare)
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Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database
- 2014
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 46:2, s. 107-115
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Tidskriftsartikel (refereegranskat)abstract
- The clinical classification of hereditary sequence variants identified in disease-related genes directly affects clinical management of patients and their relatives. The International Society for Gastrointestinal Hereditary Tumours (InSiGHT) undertook a collaborative effort to develop, test and apply a standardized classification scheme to constitutional variants in the Lynch syndrome-associated genes MLH1, MSH2, MSH6 and PMS2. Unpublished data submission was encouraged to assist in variant classification and was recognized through microattribution. The scheme was refined by multidisciplinary expert committee review of the clinical and functional data available for variants, applied to 2,360 sequence alterations, and disseminated online. Assessment using validated criteria altered classifications for 66% of 12,006 database entries. Clinical recommendations based on transparent evaluation are now possible for 1,370 variants that were not obviously protein truncating from nomenclature. This large-scale endeavor will facilitate the consistent management of families suspected to have Lynch syndrome and demonstrates the value of multidisciplinary collaboration in the curation and classification of variants in public locus-specific databases. © 2014 Nature America, Inc.
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| 4. |
- Herrick, A. L., et al.
(författare)
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Patterns and predictors of skin score change in early diffuse systemic sclerosis from the European Scleroderma Observational Study
- 2018
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Ingår i: Annals of the Rheumatic Diseases. - : BMJ. - 0003-4967 .- 1468-2060. ; 77:4, s. 563-570
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Tidskriftsartikel (refereegranskat)abstract
- Objectives Our aim was to use the opportunity provided by the European Scleroderma Observational Study to (1) identify and describe those patients with early diffuse cutaneous systemic sclerosis (dcSSc) with progressive skin thickness, and (2) derive prediction models for progression over 12 months, to inform future randomised controlled trials (RCTs). Methods The modified Rodnan skin score (mRSS) was recorded every 3 months in 326 patients. 'Progressors' were defined as those experiencing a 5-unit and 25% increase in mRSS score over 12 months (±3 months). Logistic models were fitted to predict progression and, using receiver operating characteristic (ROC) curves, were compared on the basis of the area under curve (AUC), accuracy and positive predictive value (PPV). Results 66 patients (22.5%) progressed, 227 (77.5%) did not (33 could not have their status assessed due to insufficient data). Progressors had shorter disease duration (median 8.1 vs 12.6 months, P=0.001) and lower mRSS (median 19 vs 21 units, P=0.030) than non-progressors. Skin score was highest, and peaked earliest, in the anti-RNA polymerase III (Pol3+) subgroup (n=50). A first predictive model (including mRSS, duration of skin thickening and their interaction) had an accuracy of 60.9%, AUC of 0.666 and PPV of 33.8%. By adding a variable for Pol3 positivity, the model reached an accuracy of 71%, AUC of 0.711 and PPV of 41%. Conclusions Two prediction models for progressive skin thickening were derived, for use both in clinical practice and for cohort enrichment in RCTs. These models will inform recruitment into the many clinical trials of dcSSc projected for the coming years. Trial registration number NCT02339441. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.
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| 5. |
- Gonzalez-Quiroz, M., et al.
(författare)
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Rationale and population-based prospective cohort protocol for the disadvantaged populations at risk of decline in EGFR (CO-DEGREE)
- 2019
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Ingår i: Bmj Open. - : BMJ. - 2044-6055. ; 9:9
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Tidskriftsartikel (refereegranskat)abstract
- Introduction A recently recognised form of chronic kidney disease (CKD) of unknown origin (CKDu) is afflicting communities, mostly in rural areas in several regions of the world. Prevalence studies are being conducted in a number of countries, using a standardised protocol, to estimate the distribution of estimated glomerular filtration rate (eGFR), and thus identify communities with a high prevalence of reduced glomerular filtration rate (GFR). In this paper, we propose a standardised minimum protocol for cohort studies in high-risk communities aimed at investigating the incidence of, and risk factors for, early kidney dysfunction. Methods and analysis This generic cohort protocol provides the information to establish a prospective population-based cohort study in low-income settings with a high prevalence of CKDu. This involves a baseline survey that included key elements from the DEGREE survey (eg, using the previously published DEGREE methodology) of a population-representative sample, and subsequent follow-up visits in young adults (without a pre-existing diagnosis of CKD (eGFR<60 mL/min/1.73m 2), proteinuria or risk factors for CKD at baseline) over several years. Each visit involves a core questionnaire, and collection and storage of biological samples. Local capacity to measure serum creatinine will be required so that immediate feedback on kidney function can be provided to participants. After completion of follow-up, repeat measures of creatinine should be conducted in a central laboratory, using reference standards traceable to isotope dilution mass spectrometry (IDMS) quality control material to quantify the main outcome of eGFR decline over time, alongside a description of the early evolution of disease and risk factors for eGFR decline. Ethics and dissemination Ethical approval will be obtained by local researchers, and participants will provide informed consent before the study commences. Participants will typically receive feedback and advice on their laboratory results, and referral to a local health system where appropriate. © © Author(s) (or their employer(s)) 2019. Re-use permitted under CC BY. Published by BMJ.
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| 6. |
- Gunawardena, D., et al.
(författare)
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Scoop : Decentralized and opportunistic multicasting of information streams
- 2011
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Ingår i: Proceedings of the Annual International Conference on Mobile Computing and Networking. - New York, NY, USA : ACM. - 9781450304924 ; , s. 169-180
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Konferensbidrag (refereegranskat)abstract
- We consider the problem of delivering information streams to interested mobile users, leveraging both access to the infrastructure and device-to-device data transfers. The goal is to design practical relaying algorithms that aim at optimizing a global system objective that accounts for two important aspects: first, the user interest in content with respect to its type and delivery time; and, second, resource constraints such as storage and transmission costs. We first examine a set of real-world datasets reporting contacts between users moving in relatively restricted geographic areas (e.g. a city). These datasets provide evidence that significant performance gains can be achieved by extending the information dissemination from one to two hops, and that using longer paths only brings marginal benefits. We also show that correlation of delays through different paths is typically significant, thus asking for system design that would allow for general user mobility. We then propose a class of relaying strategies (referred to as SCOOP) that aim at optimizing a global system objective, are fully decentralized, require only locally observable states by individual devices, and allow for general user mobility. These properties characterize a practical scheme whose efficiency is evaluated using real-world mobility traces.
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- Radunovic, B., et al.
(författare)
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Dynamic channel, rate selection and scheduling for white spaces
- 2011
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Ingår i: Proc. Conf. Emerg. Networking Exp. Technol., CoNEXT. - New York, NY, USA : ACM. - 9781450310413
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Konferensbidrag (refereegranskat)abstract
- We investigate dynamic channel, rate selection and scheduling for wireless systems which exploit the large number of channels available in the White-space spectrum. We first present measurements of radio channel characteristics from an indoor testbed operating in the 500 to 600MHz band and comprising 11 channels. We observe significant and unpredictable (non-stationary) variations in the quality of these channels, and demonstrate the potential benefit in throughput from tracking the best channel and also from optimally adapting the transmission rate. We propose adaptive learning schemes able to efficiently track the best channel and rate for transmission, even in scenarios with non-stationary channel condition variations. We also describe a joint scheduling scheme for providing fairness in an Access Point scenario. Finally, we implement the proposed adaptive scheme in our testbed, and demonstrate that it achieves significant throughput improvement (typically from 40% to 100%) compared to traditional fixed channel selection schemes.
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