title: Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach.
abstract: We developed a series of interrelated locus-specific databases to store all published and unpublished genetic variation related to hemoglobinopathies and thalassemia and implemented microattribution to encourage submission of unpublished observations of genetic variation to these public repositories.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.
authors.affiliation: Pennsylvania State University, Center for Comparative Genomics and Bioinformatics, University Park, Philadelphia, Pennsylvania, USA.
authors.forename: Belinda
authors.initials: B
authors.lastname: Giardine
authors.forename: Joseph
authors.initials: J
authors.lastname: Borg
authors.forename: Douglas R
authors.initials: DR
authors.lastname: Higgs
authors.forename: Kenneth R
authors.initials: KR
authors.lastname: Peterson
authors.forename: Sjaak
authors.initials: S
authors.lastname: Philipsen
authors.forename: Donna
authors.initials: D
authors.lastname: Maglott
authors.forename: Belinda K
authors.initials: BK
authors.lastname: Singleton
authors.forename: David J
authors.initials: DJ
authors.lastname: Anstee
authors.forename: A Nazli
authors.initials: AN
authors.lastname: Basak
authors.forename: Barnaby
authors.initials: B
authors.lastname: Clark
authors.forename: Flavia C
authors.initials: FC
authors.lastname: Costa
authors.forename: Paula
authors.initials: P
authors.lastname: Faustino
authors.forename: Halyna
authors.initials: H
authors.lastname: Fedosyuk
authors.forename: Alex E
authors.initials: AE
authors.lastname: Felice
authors.forename: Alain
authors.initials: A
authors.lastname: Francina
authors.forename: Renzo
authors.initials: R
authors.lastname: Galanello
authors.forename: Monica V E
authors.initials: MV
authors.lastname: Gallivan
authors.forename: Marianthi
authors.initials: M
authors.lastname: Georgitsi
authors.forename: Richard J
authors.initials: RJ
authors.lastname: Gibbons
authors.forename: Piero C
authors.initials: PC
authors.lastname: Giordano
authors.forename: Cornelis L
authors.initials: CL
authors.lastname: Harteveld
authors.forename: James D
authors.initials: JD
authors.lastname: Hoyer
authors.forename: Martin
authors.initials: M
authors.lastname: Jarvis
authors.forename: Philippe
authors.initials: P
authors.lastname: Joly
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Kanavakis
authors.forename: Panagoula
authors.initials: P
authors.lastname: Kollia
authors.forename: Stephan
authors.initials: S
authors.lastname: Menzel
authors.forename: Webb
authors.initials: W
authors.lastname: Miller
authors.forename: Kamran
authors.initials: K
authors.lastname: Moradkhani
authors.forename: John
authors.initials: J
authors.lastname: Old
authors.forename: Adamantia
authors.initials: A
authors.lastname: Papachatzopoulou
authors.forename: Manoussos N
authors.initials: MN
authors.lastname: Papadakis
authors.forename: Petros
authors.initials: P
authors.lastname: Papadopoulos
authors.forename: Sonja
authors.initials: S
authors.lastname: Pavlovic
authors.forename: Lucia
authors.initials: L
authors.lastname: Perseu
authors.forename: Milena
authors.initials: M
authors.lastname: Radmilovic
authors.forename: Cathy
authors.initials: C
authors.lastname: Riemer
authors.forename: Stefania
authors.initials: S
authors.lastname: Satta
authors.forename: Iris
authors.initials: I
authors.lastname: Schrijver
authors.forename: Maja
authors.initials: M
authors.lastname: Stojiljkovic
authors.forename: Swee Lay
authors.initials: SL
authors.lastname: Thein
authors.forename: Jan
authors.initials: J
authors.lastname: Traeger-Synodinos
authors.forename: Ray
authors.initials: R
authors.lastname: Tully
authors.forename: Takahito
authors.initials: T
authors.lastname: Wada
authors.forename: John S
authors.initials: JS
authors.lastname: Waye
authors.forename: Claudia
authors.initials: C
authors.lastname: Wiemann
authors.forename: Branka
authors.initials: B
authors.lastname: Zukic
authors.forename: David H K
authors.initials: DH
authors.lastname: Chui
authors.forename: Henri
authors.initials: H
authors.lastname: Wajcman
authors.forename: Ross C
authors.initials: RC
authors.lastname: Hardison
authors.forename: George P
authors.initials: GP
authors.lastname: Patrinos
mesh_terms: D001483:Base Sequence; D004247:DNA / Q000235:genetics; D057225:Data Mining; D030541:Databases, Genetic; D014644:Genetic Variation; D015894:Genome, Human; D006453:Hemoglobinopathies / Q000235:genetics*; D006454:Hemoglobins / Q000235:genetics; D016045:Human Genome Project; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D011401:Promoter Regions, Genetic; D011643:Publishing
chemical_list: D006454:Hemoglobins; D004247:DNA