Journal
NATURE GENETICS
Volume 43, Issue 4, Pages 295-302Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.785
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Funding
- Netherlands Genomics Initiative (NGI), Erasmus MC (MRace) [296088]
- Landsteiner Foundation for Blood Transfusion Research (LSBR) [1040]
- US National Institutes of Health (NIH) [R01-HL073455]
- Netherlands Scientific Organization [NWO DN 82-301, 912-07-019]
- NIH [R01 DK065806, RC HG005573, U01 HG004695]
- National Institutes for Health Research Biomedical Research Centre (Oxford)
- European Commission [FP6-026539, FP7-200754]
- Medical Research Council [G1000801j, MC_U137961147, G1000801b, G0000111] Funding Source: researchfish
- MRC [MC_U137961147, G0000111] Funding Source: UKRI
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We developed a series of interrelated locus-specific databases to store all published and unpublished genetic variation related to hemoglobinopathies and thalassemia and implemented microattribution to encourage submission of unpublished observations of genetic variation to these public repositories.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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