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Chunk #13 — Process of Phenotype Harmonization — Identifying common phenotypes

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Phenotype harmonization and cross-study collaboration in GWAS consortia: the GENEVA experience.
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In GENEVA, the CC reviewed the initial phenotype submission plans and data collection forms for each study. The CC identified overlapping phenotype areas for which data had been collected, and created a web-based survey (see Supplementary Material, Appendix A) in which study investigators were asked to indicate, for 13 broad phenotype categories, if (a) their study had collected specific data, and if so, (b) the level of sharing, i.e. would they share it solely with other GENEVA investigators or would they share their data with authorized researchers through the controlled-access Database of Genotypes and Phenotypes (dbGaP) [Mailman et al., 2007]. Investigators were invited to list other phenotypes for which data were available and which could be shared in cross-study analyses. The CC tabulated responses and provided the information back to the PHS for review and discussion. If there was interest in a phenotype across three or more studies, the Subcommittee solicited a volunteer to lead a WG for that phenotype and solicited nominations for WG members from those studies interested in participating in cross-study analyses of those phenotypes. If only