Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach.
| Τίτλος | Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach. |
| Publication Type | Journal Article |
| Year of Publication | 2011 |
| Authors | Giardine, B., Borg J., Higgs D. R., Peterson K. R., Philipsen S., Maglott D., Singleton B. K., Anstee D. J., A Basak N., Clark B., Costa F. C., Faustino P., Fedosyuk H., Felice A. E., Francina A., Galanello R., Gallivan M. V. E., Georgitsi M., Gibbons R. J., Giordano P. C., Harteveld C. L., Hoyer J. D., Jarvis M., Joly P., Kanavakis E., Kollia P., Menzel S., Miller W., Moradkhani K., Old J., Papachatzopoulou A., Papadakis M. N., Papadopoulos P., Pavlovic S., Perseu L., Radmilovic M., Riemer C., Satta S., Schrijver I., Stojiljkovic M., Thein S. Lay, Traeger-Synodinos J., Tully R., Wada T., Waye J. S., Wiemann C., Zukic B., Chui D. H. K., Wajcman H., Hardison R. C., & Patrinos G. P. |
| Journal | Nat Genet |
| Volume | 43 |
| Issue | 4 |
| Pagination | 295-301 |
| Date Published | 2011 Mar 20 |
| ISSN | 1546-1718 |
| Λέξεις κλειδιά | Base Sequence, Data Mining, Databases, Genetic, DNA, Genetic Variation, Genome, Human, Hemoglobinopathies, Hemoglobins, Human Genome Project, Humans, Molecular Sequence Data, Mutation, Promoter Regions, Genetic, Publishing |
| Abstract | We developed a series of interrelated locus-specific databases to store all published and unpublished genetic variation related to hemoglobinopathies and thalassemia and implemented microattribution to encourage submission of unpublished observations of genetic variation to these public repositories.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. |
| DOI | 10.1038/ng.785 |
| Alternate Journal | Nat. Genet. |
| PubMed ID | 21423179 |
| PubMed Central ID | PMC3878152 |
| Grant List | RC2 HG005573 / HG / NHGRI NIH HHS / United States MC_U137961147 / / Medical Research Council / United Kingdom G0000111 / / Medical Research Council / United Kingdom R01-DK065806 / DK / NIDDK NIH HHS / United States R01 DK065806 / DK / NIDDK NIH HHS / United States R01-HL073455 / HL / NHLBI NIH HHS / United States RC HG005573 / HG / NHGRI NIH HHS / United States U01 HG004695 / HG / NHGRI NIH HHS / United States |
