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Giardine B Borg J Higgs DR Peterson KR Philipsen S Maglott D Singleton BK Anstee DJ Basak AN Clark B Costa FC Faustino P Fedosyuk H Felice AE Francina A Galanello R Gallivan MV Georgitsi M Gibbons RJ Giordano PC Harteveld CL Hoyer JD Jarvis M Joly P Kanavakis E Kollia P Menzel S Miller W Moradkhani K Old J Papachatzopoulou A Papadakis MN Papadopoulos P Pavlovic S Perseu L Radmilovic M Riemer C Satta S Schrijver I Stojiljkovic M Thein SL Traeger-Synodinos J Tully R Wada T Waye JS Wiemann C 《Nature genetics》2011,43(4):295-301
We developed a series of interrelated locus-specific databases to store all published and unpublished genetic variation related to hemoglobinopathies and thalassemia and implemented microattribution to encourage submission of unpublished observations of genetic variation to these public repositories. A total of 1,941 unique genetic variants in 37 genes, encoding globins and other erythroid proteins, are currently documented in these databases, with reciprocal attribution of microcitations to data contributors. Our project provides the first example of implementing microattribution to incentivise submission of all known genetic variation in a defined system. It has demonstrably increased the reporting of human variants, leading to a comprehensive online resource for systematically describing human genetic variation in the globin genes and other genes contributing to hemoglobinopathies and thalassemias. The principles established here will serve as a model for other systems and for the analysis of other common and/or complex human genetic diseases. 相似文献
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Basak I. Wicky H. E. McDonald K. O. Xu J. B. Palmer J. E. Best H. L. Lefrancois S. Lee S. Y. Schoderboeck L. Hughes S. M. 《Cellular and molecular life sciences : CMLS》2021,78(10):4735-4763
Cellular and Molecular Life Sciences - Neuronal Ceroid Lipofuscinosis (NCL), also known as Batten disease, is an incurable childhood brain disease. The thirteen forms of NCL are caused by mutations... 相似文献
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A mean square error criterion is proposed in this paper to provide a systematic approach to approximate a long‐memory time series by a short‐memory ARMA(1, 1) process. Analytic expressions are derived to assess the effect of such an approximation. These results are established not only for the pure fractional noise case, but also for a general autoregressive fractional moving average long‐memory time series. Performances of the ARMA(1,1) approximation as compared to using an ARFIMA model are illustrated by both computations and an application to the Nile river series. Results derived in this paper shed light on the forecasting issue of a long‐memory process. Copyright © 2001 John Wiley & Sons, Ltd. 相似文献
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Surajit Basak Prosanta Biswas Surajit Patra Himadri Roy Manas Kumar Mondal 《矿物冶金与材料学报》2021,28(7):1174-1185
A near eutectic Al?12.6Si alloy was developed with 0.0wt%, 2.0wt%, 4.0wt%, and 6.0wt% Al?5Ti?1B master alloy. The microstructural morphology, hardness, tensile strength, elongation, and fracture behaviour of the alloys were studied. The unmodified Al?12.6Si alloy has an irregular needle and plate-like eutectic silicon (ESi) and coarse polygonal primary silicon (PSi) particles in the matrix-like α-Al phase. The PSi, ESi, and α-Al morphology and volume fraction were changed due to the addition of the Al?5Ti?1B master alloy. The hardness, UTS, and elongation improved due to the microstructural modification. Nano-sized in-situ Al3Ti particles and ex-situ TiB2 particles caused the microstructural modification. The fracture images of the developed alloys exhibit a ductile and brittle mode of fracture at the same time. The Al?5Ti?1B modified alloys have a more ductile mode of fracture and more dimples compared to the unmodified alloy. 相似文献
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