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Title: Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach
Authors: Giardine, Belinda
Borg, Joseph
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 E.
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, 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
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Abstract: We developed a series of interrelated locus-specific databases to store all published and unpublished genetic variation related to hemoglobinopathies and thalassemia and implemented microattribution to encourage submission of unpublished observations of genetic variation to these public repositories.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.
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