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

Belinda Giardine; Joseph Borg; Douglas R. Higgs; Kenneth R. Peterson; Sjaak Philipsen; Donna Maglott; Belinda K. Singleton; David J. Anstee; A. Nazli Basak; Barnaby Clark; Flavia C. Costa; Paula Faustino; Halyna Fedosyuk; Alex E. Felice; Alain Francina; Renzo Galanello; Monica V.E. Gallivan; Marianthi Georgitsi; Richard J. Gibbons; Piero C. Giordano; Cornelis L. Harteveld; James D. Hoyer; Martin Jarvis; Philippe Joly; Emmanuel Kanavakis; Panagoula Kollia; Stephan Menzel; Webb Miller; Kamran Moradkhani; John Old; Adamantia Papachatzopoulou; Manoussos N. Papadakis; Petros Papadopoulos; Sonja Pavlovic; Lucia Perseu; Milena Radmilovic; Cathy Riemer; Stefania Satta; Iris Schrijver; Maja Stojiljkovic; Swee Lay Thein; Jan Traeger-Synodinos; Ray Tully; Takahito Wada; John S. Waye; Claudia Wiemann; Branka Zukic; David H.K. Chui; Henri Wajcman; Ross C. Hardison; George P. Patrinos

doi:10.1038/ng.785

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

Belinda Giardine, Joseph Borg, Douglas R. Higgs, Kenneth R. Peterson, Sjaak Philipsen, Donna Maglott, Belinda K. Singleton, David J. Anstee, A. Nazli Basak, Barnaby Clark, Flavia C. Costa, Paula Faustino, Halyna Fedosyuk, Alex E. Felice, Alain Francina, Renzo Galanello, Monica V.E. Gallivan, Marianthi Georgitsi, Richard J. Gibbons, Piero C. GiordanoCornelis L. Harteveld, James D. Hoyer, Martin Jarvis, Philippe Joly, Emmanuel Kanavakis, Panagoula Kollia, Stephan Menzel, Webb Miller, Kamran Moradkhani, John Old, Adamantia Papachatzopoulou, Manoussos N. Papadakis, Petros Papadopoulos, Sonja Pavlovic, Lucia Perseu, Milena Radmilovic, Cathy Riemer, Stefania Satta, Iris Schrijver, Maja Stojiljkovic, Swee Lay Thein, Jan Traeger-Synodinos, Ray Tully, Takahito Wada, John S. Waye, Claudia Wiemann, Branka Zukic, David H.K. Chui, Henri Wajcman, Ross C. Hardison, George P. Patrinos

Laboratory Medicine and Pathology

Research output: Contribution to journal › Article › peer-review

111 Scopus citations

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We developed a series of interrelated locus-specific databases to store all published and unpublished genetic variation related to hemoglobinopathies and thalassemia and implemented microattribution to encourage submission of unpublished observations of genetic variation to these public repositories.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

Original language	English (US)
Pages (from-to)	295-302
Number of pages	8
Journal	Nature Genetics
Volume	43
Issue number	4
DOIs	https://doi.org/10.1038/ng.785
State	Published - Feb 2011

ASJC Scopus subject areas

Genetics

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Giardine, B., Borg, J., Higgs, D. R., Peterson, K. R., Philipsen, S., Maglott, D., Singleton, B. K., Anstee, D. J., Basak, A. N., Clark, B., Costa, F. C., Faustino, P., Fedosyuk, H., Felice, A. E., Francina, A., Galanello, R., Gallivan, M. V. E., Georgitsi, M., Gibbons, R. J., ... Patrinos, G. P. (2011). Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach. Nature Genetics, 43(4), 295-302. https://doi.org/10.1038/ng.785

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, MVE, 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, DHK, Wajcman, H, Hardison, RC & Patrinos, GP 2011, 'Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach', Nature Genetics, vol. 43, no. 4, pp. 295-302. https://doi.org/10.1038/ng.785

@article{87e0c71104b04dc4a5348ddfa88fe6d1,

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.",

author = "Belinda Giardine and Joseph Borg and Higgs, {Douglas R.} and Peterson, {Kenneth R.} and Sjaak Philipsen and Donna Maglott and Singleton, {Belinda K.} and Anstee, {David J.} and Basak, {A. Nazli} and Barnaby Clark and Costa, {Flavia C.} and Paula Faustino and Halyna Fedosyuk and Felice, {Alex E.} and Alain Francina and Renzo Galanello and Gallivan, {Monica V.E.} and Marianthi Georgitsi and Gibbons, {Richard J.} and Giordano, {Piero C.} and Harteveld, {Cornelis L.} and Hoyer, {James D.} and Martin Jarvis and Philippe Joly and Emmanuel Kanavakis and Panagoula Kollia and Stephan Menzel and Webb Miller and Kamran Moradkhani and John Old and Adamantia Papachatzopoulou and Papadakis, {Manoussos N.} and Petros Papadopoulos and Sonja Pavlovic and Lucia Perseu and Milena Radmilovic and Cathy Riemer and Stefania Satta and Iris Schrijver and Maja Stojiljkovic and Thein, {Swee Lay} and Jan Traeger-Synodinos and Ray Tully and Takahito Wada and Waye, {John S.} and Claudia Wiemann and Branka Zukic and Chui, {David H.K.} and Henri Wajcman and Hardison, {Ross C.} and Patrinos, {George P.}",

note = "Funding Information: This work was supported by the Netherlands Genomics Initiative (NGI), Erasmus MC (MRace; 296088), the Landsteiner Foundation for Blood Transfusion Research (LSBR; 1040), US National Institutes of Health (NIH) (R01-HL073455) and the Netherlands Scientific Organization (NWO DN 82-301 and 912-07-019) to S.P., the NIH grants R01 DK065806, RC HG005573 and U01 HG004695 to R.C.H., the National Institutes for Health Research Biomedical Research Centre (Oxford) to D.R.H. and European Commission grants (FP6-026539 (ITHANET), FP7-200754 (GEN2PHEN)) to G.P.P.",

year = "2011",

month = feb,

doi = "10.1038/ng.785",

language = "English (US)",

volume = "43",

pages = "295--302",

journal = "Nature Genetics",

issn = "1061-4036",

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T1 - Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach

AU - Giardine, Belinda

AU - Borg, Joseph

AU - Higgs, Douglas R.

AU - Peterson, Kenneth R.

AU - Philipsen, Sjaak

AU - Maglott, Donna

AU - Singleton, Belinda K.

AU - Anstee, David J.

AU - Basak, A. Nazli

AU - Clark, Barnaby

AU - Costa, Flavia C.

AU - Faustino, Paula

AU - Fedosyuk, Halyna

AU - Felice, Alex E.

AU - Francina, Alain

AU - Galanello, Renzo

AU - Gallivan, Monica V.E.

AU - Georgitsi, Marianthi

AU - Gibbons, Richard J.

AU - Giordano, Piero C.

AU - Harteveld, Cornelis L.

AU - Hoyer, James D.

AU - Jarvis, Martin

AU - Joly, Philippe

AU - Kanavakis, Emmanuel

AU - Kollia, Panagoula

AU - Menzel, Stephan

AU - Miller, Webb

AU - Moradkhani, Kamran

AU - Old, John

AU - Papachatzopoulou, Adamantia

AU - Papadakis, Manoussos N.

AU - Papadopoulos, Petros

AU - Pavlovic, Sonja

AU - Perseu, Lucia

AU - Radmilovic, Milena

AU - Riemer, Cathy

AU - Satta, Stefania

AU - Schrijver, Iris

AU - Stojiljkovic, Maja

AU - Thein, Swee Lay

AU - Traeger-Synodinos, Jan

AU - Tully, Ray

AU - Wada, Takahito

AU - Waye, John S.

AU - Wiemann, Claudia

AU - Zukic, Branka

AU - Chui, David H.K.

AU - Wajcman, Henri

AU - Hardison, Ross C.

AU - Patrinos, George P.

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PY - 2011/2

Y1 - 2011/2

N2 - 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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Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach

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