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PMID: 21423179 Published · epublish English Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

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

Nature genetics ·Vol. 43 ·No. 4 ·2011-03-20 ·Pages 295-301

Giardine B, Borg J, Higgs DR, Peterson KR, Philipsen S, Maglott D, Singleton BK, Anstee DJ, Basak AN, Clark B, Costa FC, Faustino P, Fedosyuk H, Felice AE, Francina A, Galanello R, Gallivan MV, Georgitsi M, Gibbons RJ, Giordano PC, Harteveld CL, Hoyer JD, Jarvis M, Joly P, Kanavakis E, Kollia P, Menzel S, Miller W, Moradkhani K, Old J, Papachatzopoulou A, Papadakis MN, Papadopoulos P, Pavlovic S, Perseu L, Radmilovic M, Riemer C, Satta S, Schrijver I, Stojiljkovic M, Thein SL, Traeger-Synodinos J, Tully R, Wada T, Waye JS, Wiemann C, Zukic B, Chui DH, Wajcman H, Hardison RC, Patrinos GP

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We developed a series of interrelated locus-specific databases to store all published and unpublished genetic variation related to hemoglobinopathies and thalassemia and implemented microattribution to encourage submission of unpublished observations of genetic variation to these public repositories.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

MeSH Terms
Base Sequence DNA/genetics Data Mining Databases, Genetic Genetic Variation Genome, Human Hemoglobinopathies/genetics Hemoglobins/genetics Human Genome Project Humans Molecular Sequence Data Mutation Promoter Regions, Genetic Publishing
Chemicals
Hemoglobins DNA
Authors & Affiliations
51 authors, click to expand affiliations / ORCID
Giardine Belinda
Pennsylvania State University, Center for Comparative Genomics and Bioinformatics, University Park, Philadelphia, Pennsylvania, USA.
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
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Article Info
Journal
Nature genetics
Abbr.
Nat Genet
ISSN
1546-1718
DOI
10.1038/ng.785
Published
2011-03-20
Epub
2011-00-20
Pages
295-301
Language
English
Region
United States
NLM ID
9216904
PMCID
PMC3878152
Subset
IM
Grants
NHGRI NIH HHS · RC2 HG005573 · United States
Medical Research Council · MC_U137961147 · United Kingdom
Medical Research Council · G0000111 · United Kingdom
NIDDK NIH HHS · R01-DK065806 · United States
NIDDK NIH HHS · R01 DK065806 · United States
NHLBI NIH HHS · R01-HL073455 · United States
NHGRI NIH HHS · RC HG005573 · United States
NHGRI NIH HHS · U01 HG004695 · United States
Corrections
CommentIn
PMID: 21445067
External Links
PubMed source DOI: 10.1038/ng.785 PMC Full Text View journal details
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