Dataset Information

Phenotype harmonization and cross-study collaboration in GWAS consortia: the GENEVA experience.

ABSTRACT: Genome-wide association study (GWAS) consortia and collaborations formed to detect genetic loci for common phenotypes or investigate gene-environment (G*E) 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 for many collaborations. Phenotype harmonization requires identifying common phenotypes, determining the feasibility of cross-study analysis for each, preparing common definitions, and applying appropriate algorithms. Other issues to be considered include genotyping timeframes, coordination of parallel efforts by other collaborative groups, analytic approaches, and imputation of genotype data. GENEVA's harmonization efforts and policy of promoting data sharing and collaboration, not only within GENEVA but also with outside collaborations, can provide important guidance to ongoing and new consortia.

SUBMITTER: Bennett SN

PROVIDER: S-EPMC3055921 | biostudies-literature | 2011 Apr

REPOSITORIES: biostudies-literature

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Phenotype harmonization and cross-study collaboration in GWAS consortia: the GENEVA experience.

Bennett Siiri N SN Caporaso Neil N Fitzpatrick Annette L AL Agrawal Arpana A Barnes Kathleen K Boyd Heather A HA Cornelis Marilyn C MC Hansel Nadia N NN Heiss Gerardo G Heit John A JA Kang Jae Hee JH Kittner Steven J SJ Kraft Peter P Lowe William W Marazita Mary L ML Monroe Kristine R KR Pasquale Louis R LR Ramos Erin M EM van Dam Rob M RM Udren Jenna J Williams Kayleen K

Genetic epidemiology 20110131 3

Genome-wide association study (GWAS) consortia and collaborations formed to detect genetic loci for common phenotypes or investigate gene-environment (G*E) 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 differen ...[more]

PMID: 21284036

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Project description:The Center for Interprofessional Training in Medicine at the Faculty of Medicine Carl Gustav Carus at the Technische Universität Dresden, Germany, has offered courses covering interprofessional material since the winter semester 2014/15. The unusual feature of these courses is that they are co-taught by peer tutors from medicine and nursing. This study investigates the subjective experiences of these tutors during the collaborative preparation and teaching of these tutorials with the aim of identifying the effects of equal participation in the perceptions and assessments of the other professional group.Semi-structured, guideline-based interviews were held with six randomly selected tutors. The interviews were analyzed using structuring content analysis.The results show that collaborative work led to reflection, mostly by the university student tutors, on the attitudes held. However, the co-tutors from each professional group were perceived to different degrees as being representative of those in their profession. Asked to master a shared assignment in a non-clinical context, the members of the different professional groups met on equal footing, even if the medical students had already gathered more teaching experience and thus mostly assumed a mentoring role over the course of working on and realizing the teaching units. The nursing tutors were primarily focused on their role as tutor. Both professional groups emphasized that prior to the collaboration they had an insufficient or no idea about the theoretical knowledge or practical skills of the other professional group. Overall, the project was rated as beneficial, and interprofessional education was endorsed.In the discussion, recommendations based on the insights are made for joint tutor training of both professional groups. According to these recommendations, harmonizing the teaching abilities of all tutors is essential to ensure equality during cooperation. Ideally, training programs should be attended together by medical and nursing students to emphasize their shared identity as "tutor".

Dataset Information

Phenotype harmonization and cross-study collaboration in GWAS consortia: the GENEVA experience.

Publications

Phenotype harmonization and cross-study collaboration in GWAS consortia: the GENEVA experience.

Similar Datasets

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