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Phenotype harmonization and cross-study collaboration in GWAS consortia: the GENEVA experience by Siiri N. Bennett; Neil Caporaso; Annette L. Fitzpatrick; Arpana Agrawal; Kathleen Barnes; Heather A. Boyd; Marilyn C. Cornelis; Nadia N. Hansel; Gerardo Heiss; John A. Heit; Jae Hee Kang; Steven J. Kittner; Peter Kraft; William Lowe; Mary L. Marazita; Kristine R. Monroe; Louis R. Pasquale; Erin M. Ramos; Rob M. van Dam; Jenna Udren; Kayleen Williams; for the GENEVA Consortium is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

What is Phenotype harmonization and cross-study collaboration in GWAS consortia: the GENEVA experience about?

Genome-wide association study (GWAS) consortia and collaborations formed to detect genetic loci for common phenotypes or investigate gene-environment (GÃE) interactions are increasingly common. While these consortia effectively increase sample size, phenotype heterogeneity across studies represents a major obstacle that limits successful identification of these associations. Investigators are faced with the challenge of how to harmonize previously collected phenotype data obtained using different data collection instruments which cover topics in varying degrees of detail and over diverse time frames. This process has not been described in detail. We describe here some of the strategies and pitfalls associated with combining phenotype data from varying studies. Using the Gene Environment Association Studies (GENEVA) multi-site GWAS consortium as an example, this paper provides an illustration to guide GWAS consortia through the process of phenotype harmonization and describes key issues that arise when sharing data across disparate studies. GENEVA is unusual in the diversity of disease endpoints and so the issues it faces as its participating studies share data will be informative f

Who reads Phenotype harmonization and cross-study collaboration in GWAS consortia: the GENEVA experience?

Author

Siiri N. Bennett; Neil Caporaso; Annette L. Fitzpatrick; Arpana Agrawal; Kathleen Barnes; Heather A. Boyd; Marilyn C. Cornelis; Nadia N. Hansel; Gerardo Heiss; John A. Heit; Jae Hee Kang; Steven J. Kittner; Peter Kraft; William Lowe; Mary L. Marazita; Kristine R. Monroe; Louis R. Pasquale; Erin M. Ramos; Rob M. van Dam; Jenna Udren; Kayleen Williams; for the GENEVA Consortium

Publisher

John Wiley and Sons; Wiley (John Wiley & Sons); John Wiley & Sons Inc.; Wiley (ISSN 0741-0395)

Published

2011

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)