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 & 31 others Cornelis L. Harteveld, James 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

Research output: Contribution to journalArticle

99 Citations (Scopus)

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We developed a series of interrelated locus-specific databases to store all published and unpublished genetic variation related to hemoglobinopathies and thalassemia and implemented microattribution to encourage submission of unpublished observations of genetic variation to these public repositories.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 languageEnglish (US)
Pages (from-to)295-302
Number of pages8
JournalNature Genetics
Volume43
Issue number4
DOIs
StatePublished - Feb 1 2011

Fingerprint

Hemoglobinopathies
Medical Genetics
Documentation
Thalassemia
Globins
Databases
Genes
Inborn Genetic Diseases
Systems Analysis
Proteins

ASJC Scopus subject areas

  • Genetics

Cite this

Giardine, B., Borg, J., Higgs, D. R., Peterson, K. R., Philipsen, S., Maglott, D., ... 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

Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach. / Giardine, Belinda; 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; 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.

In: Nature Genetics, Vol. 43, No. 4, 01.02.2011, p. 295-302.

Research output: Contribution to journalArticle

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, J, 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
Giardine, Belinda ; 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 ; 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. / Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach. In: Nature Genetics. 2011 ; Vol. 43, No. 4. pp. 295-302.
@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 James Hoyer 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.}",
year = "2011",
month = "2",
day = "1",
doi = "10.1038/ng.785",
language = "English (US)",
volume = "43",
pages = "295--302",
journal = "Nature Genetics",
issn = "1061-4036",
publisher = "Nature Publishing Group",
number = "4",

}

TY - JOUR

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

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.

PY - 2011/2/1

Y1 - 2011/2/1

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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=79953216652&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=79953216652&partnerID=8YFLogxK

U2 - 10.1038/ng.785

DO - 10.1038/ng.785

M3 - Article

VL - 43

SP - 295

EP - 302

JO - Nature Genetics

JF - Nature Genetics

SN - 1061-4036

IS - 4

ER -