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

2011-04Journal article Restricted access
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dc.contributor.authorGiardine, Belinda
dc.contributor.authorBorg, Joseph
dc.contributor.authorHiggs, Douglas R
dc.contributor.authorPeterson, Kenneth
dc.contributor.authorPhilipsen, Sjaak
dc.contributor.authorMaglott, Donna
dc.contributor.authorSingleton, Belinda
dc.contributor.authorAnstee, David J
dc.contributor.authorBasak, Nazli
dc.contributor.authorClark, Barnaby
dc.contributor.authorCosta, Flavia C
dc.contributor.authorFaustino, Paula
dc.contributor.authorFedosyuk, Halyna
dc.contributor.authorFelice, Alex E
dc.contributor.authorFrancina, Alain
dc.contributor.authorGalanello, Renzo
dc.contributor.authorGallivan, Monica VE
dc.contributor.authorGeorgitsi, Marianthi
dc.contributor.authorGibbons, Richard J
dc.contributor.authorGiordano, Piero C
dc.contributor.authorHarteveld, Cornelis L
dc.contributor.authorHoyer, James D
dc.contributor.authorJarvis, Martin
dc.contributor.authorJoly, Philippe
dc.contributor.authorKanavakis, Emmanuel
dc.contributor.authorKollia, Panagoula
dc.contributor.authorMenzel, Stephan
dc.contributor.authorMiller, Webb
dc.contributor.authorMoradkhani, Kamran
dc.contributor.authorOld, John
dc.contributor.authorPapachatzopoulou, Adamantia
dc.contributor.authorPapadakis, Manoussous N
dc.contributor.authorPapadopoulos, Petros
dc.contributor.authorPavlovic, Sonja
dc.contributor.authorPerseu, Lucia
dc.contributor.authorRadmilovic, Milena
dc.contributor.authorRiemer, Cathy
dc.contributor.authorSatta, Stefania
dc.contributor.authorSchrijver, Iris
dc.contributor.authorStojiljkovic, Maja
dc.contributor.authorThein, Swee Lay
dc.contributor.authorTraeger-Synodinos, Jan
dc.contributor.authorTully, Ray
dc.contributor.authorWada, Takahito
dc.contributor.authorWayne, John S
dc.contributor.authorWiemann, Claudia
dc.contributor.authorZukic, Branda
dc.contributor.authorChui, David HK
dc.contributor.authorWajcman, Henri
dc.contributor.authorHardison, Ross C
dc.contributor.authorPatrinos, George P
dc.date.accessioned2011-08-18T16:42:20Z
dc.date.available2011-08-18T16:42:20Z
dc.date.issued2011-04
dc.description.abstractWe developed a series of interrelated locus-specific databases to store all published and unpublished genetic variation related to hemoglobinopathies and thalassemia and implemented microattribution to encourage submission of unpublished observations of genetic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 disease.por
dc.identifier.citationNat Genet. 2011 Mar 20;43(4):295-301por
dc.identifier.issn1061-4036
dc.identifier.urihttp://hdl.handle.net/10400.18/105
dc.language.isoengpor
dc.peerreviewedyespor
dc.publisherNature Publishing Grouppor
dc.rights.urihttp://www.nature.com/ng/journal/v43/n4/full/ng.785.htmleng
dc.subjecthemoglobinopathiespor
dc.subjectthalassemiapor
dc.subjectlocus-specific databasespor
dc.subjectmicroattributionpor
dc.subjectDoenças Genéticaspor
dc.titleSystematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approachpor
dc.typejournal article
dspace.entity.typePublication
oaire.awardURIinfo:eu-repo/grantAgreement/EC/FP7/200754
oaire.citation.endPage301por
oaire.citation.issue4por
oaire.citation.startPage295por
oaire.citation.titleNature Geneticspor
oaire.citation.volume43por
oaire.fundingStreamFP7
project.funder.identifierhttp://doi.org/10.13039/501100008530
project.funder.nameEuropean Commission
rcaap.rightsopenAccesseng
rcaap.typearticleeng
relation.isProjectOfPublication3fa16b81-e938-4203-9f06-d5070e697e3c
relation.isProjectOfPublication.latestForDiscovery3fa16b81-e938-4203-9f06-d5070e697e3c

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