Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach.
We developed a series of interrelated locus-specific databases to store all published and unpublished genetic variation related to hemoglobinopathies and thalassemia and implemented microattribution to encourage submission of unpublished observations of genetic variation to these public repositories...
| Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , |
|---|---|
| Format: | Journal article |
| Language: | English |
| Published: |
2011
|
| _version_ | 1797074487350394880 |
|---|---|
| author | Giardine, B Borg, J Higgs, D Peterson, K Philipsen, S Maglott, D Singleton, B Anstee, D Basak, A Clark, B Costa, F Faustino, P Fedosyuk, H Felice, A Francina, A Galanello, R Gallivan, M Georgitsi, M Gibbons, R Giordano, P Harteveld, C Hoyer, J Jarvis, M Joly, P Kanavakis, E |
| author_facet | Giardine, B Borg, J Higgs, D Peterson, K Philipsen, S Maglott, D Singleton, B Anstee, D Basak, A Clark, B Costa, F Faustino, P Fedosyuk, H Felice, A Francina, A Galanello, R Gallivan, M Georgitsi, M Gibbons, R Giordano, P Harteveld, C Hoyer, J Jarvis, M Joly, P Kanavakis, E |
| author_sort | Giardine, B |
| collection | OXFORD |
| description | We developed a series of interrelated locus-specific databases to store all published and unpublished genetic variation related to hemoglobinopathies and thalassemia and implemented microattribution to encourage submission of unpublished observations of genetic variation to these public repositories.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. |
| first_indexed | 2024-03-06T23:36:54Z |
| format | Journal article |
| id | oxford-uuid:6df8b5ac-3e76-4f6d-b2e6-1502f5a9da09 |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-06T23:36:54Z |
| publishDate | 2011 |
| record_format | dspace |
| spelling | oxford-uuid:6df8b5ac-3e76-4f6d-b2e6-1502f5a9da092022-03-26T19:21:18ZSystematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:6df8b5ac-3e76-4f6d-b2e6-1502f5a9da09EnglishSymplectic Elements at Oxford2011Giardine, BBorg, JHiggs, DPeterson, KPhilipsen, SMaglott, DSingleton, BAnstee, DBasak, AClark, BCosta, FFaustino, PFedosyuk, HFelice, AFrancina, AGalanello, RGallivan, MGeorgitsi, MGibbons, RGiordano, PHarteveld, CHoyer, JJarvis, MJoly, PKanavakis, EWe 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. |
| spellingShingle | Giardine, B Borg, J Higgs, D Peterson, K Philipsen, S Maglott, D Singleton, B Anstee, D Basak, A Clark, B Costa, F Faustino, P Fedosyuk, H Felice, A Francina, A Galanello, R Gallivan, M Georgitsi, M Gibbons, R Giordano, P Harteveld, C Hoyer, J Jarvis, M Joly, P Kanavakis, E Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach. |
| title | Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach. |
| title_full | Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach. |
| title_fullStr | Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach. |
| title_full_unstemmed | Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach. |
| title_short | Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach. |
| title_sort | systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach |
| work_keys_str_mv | AT giardineb systematicdocumentationandanalysisofhumangeneticvariationinhemoglobinopathiesusingthemicroattributionapproach AT borgj systematicdocumentationandanalysisofhumangeneticvariationinhemoglobinopathiesusingthemicroattributionapproach AT higgsd systematicdocumentationandanalysisofhumangeneticvariationinhemoglobinopathiesusingthemicroattributionapproach AT petersonk systematicdocumentationandanalysisofhumangeneticvariationinhemoglobinopathiesusingthemicroattributionapproach AT philipsens systematicdocumentationandanalysisofhumangeneticvariationinhemoglobinopathiesusingthemicroattributionapproach AT maglottd systematicdocumentationandanalysisofhumangeneticvariationinhemoglobinopathiesusingthemicroattributionapproach AT singletonb systematicdocumentationandanalysisofhumangeneticvariationinhemoglobinopathiesusingthemicroattributionapproach AT ansteed systematicdocumentationandanalysisofhumangeneticvariationinhemoglobinopathiesusingthemicroattributionapproach AT basaka systematicdocumentationandanalysisofhumangeneticvariationinhemoglobinopathiesusingthemicroattributionapproach AT clarkb systematicdocumentationandanalysisofhumangeneticvariationinhemoglobinopathiesusingthemicroattributionapproach AT costaf systematicdocumentationandanalysisofhumangeneticvariationinhemoglobinopathiesusingthemicroattributionapproach AT faustinop systematicdocumentationandanalysisofhumangeneticvariationinhemoglobinopathiesusingthemicroattributionapproach AT fedosyukh systematicdocumentationandanalysisofhumangeneticvariationinhemoglobinopathiesusingthemicroattributionapproach AT felicea systematicdocumentationandanalysisofhumangeneticvariationinhemoglobinopathiesusingthemicroattributionapproach AT francinaa systematicdocumentationandanalysisofhumangeneticvariationinhemoglobinopathiesusingthemicroattributionapproach AT galanellor systematicdocumentationandanalysisofhumangeneticvariationinhemoglobinopathiesusingthemicroattributionapproach AT gallivanm systematicdocumentationandanalysisofhumangeneticvariationinhemoglobinopathiesusingthemicroattributionapproach AT georgitsim systematicdocumentationandanalysisofhumangeneticvariationinhemoglobinopathiesusingthemicroattributionapproach AT gibbonsr systematicdocumentationandanalysisofhumangeneticvariationinhemoglobinopathiesusingthemicroattributionapproach AT giordanop systematicdocumentationandanalysisofhumangeneticvariationinhemoglobinopathiesusingthemicroattributionapproach AT harteveldc systematicdocumentationandanalysisofhumangeneticvariationinhemoglobinopathiesusingthemicroattributionapproach AT hoyerj systematicdocumentationandanalysisofhumangeneticvariationinhemoglobinopathiesusingthemicroattributionapproach AT jarvism systematicdocumentationandanalysisofhumangeneticvariationinhemoglobinopathiesusingthemicroattributionapproach AT jolyp systematicdocumentationandanalysisofhumangeneticvariationinhemoglobinopathiesusingthemicroattributionapproach AT kanavakise systematicdocumentationandanalysisofhumangeneticvariationinhemoglobinopathiesusingthemicroattributionapproach |