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Title: | Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach |
Authors: | Giardine, Belinda Borg, Joseph J. Higgs, Douglas R. Peterson, Kenneth R. Philipsen, Sjaak Maglott, Donna Singleton, Belinda K. Anstee, David J. Basak, Ayse Nazli Clark, Barnaby Costa, Flavia C. Faustino, Paula Fedosyuk, Halyna Felice, Alex Francina, Alain Galanello, Renzo Gallivan, Monica V. E. Georgitsi, Marianthi Gibbons, Richard J. Giordano, Piero C. Harteveld, Cornelis L. Hoyer, James D. Jarvis, Martin Joly, Philippe Kanavakis, Emmanuel Kollia, Panagoula Menzel, Stephan Miller, Webb Moradkhani, Kamran Old, John Papachatzopoulou, Adamantia Papadakis, Manoussos N. Papadopoulos, Petros Pavlovic, Sonja Perseu, Lucia Radmilovic, Milena Riemer, Cathy Satta, Stefania Schrijver, Iris Stojiljkovic-Petrovic, Maja Thein, Swee Lay Traeger-Synodinos, Jan Tully, Ray Wada, Takahito Waye, John S. Wiemann, Claudia Zukic, Branka Chui, David H. K. Wajcman, Henri Hardison, Ross C. Patrinos, George P. |
Keywords: | Hemoglobinopathy Thalassemia Human genetics -- Variation |
Issue Date: | 2011 |
Publisher: | Nature Publishing Group |
Citation: | Giardine, B., Borg, J., Higgs, D. R., Peterson, K. R., Philipsen, S., Maglott, D.,...Patrinos, G. P. (2011). Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach. Nature Genetics, 43(4), 295-301. |
Abstract: | We developed a series of interrelated locus-specific databases to store all published and unpublished genetic variation related to hemoglobinopathies and thalassemia and implemented microattribution to encourage submission of unpublished observations of genetic variation to these public repositories.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. |
URI: | https://www.um.edu.mt/library/oar//handle/123456789/28014 |
Appears in Collections: | Scholarly Works - FacHScABS Scholarly Works - FacM&SPB |
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