Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach.

doi:10.1038/ng.785

Article

Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach.

Nature genetics - 20 Mar 2011

Giardine Belinda, Borg Joseph, Higgs Douglas R, Peterson Kenneth R, Philipsen Sjaak, Maglott Donna, Singleton Belinda K, Anstee David J, Basak A 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

Abstract excerpt

We developed a series of interrelated locus-specific databases to store all published and unpublished genetic variation related to hemoglobinopathies and thalassemia and implemented microattribution to encourage submission of unpublished observations of genetic variation to these public repositories.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...

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