We plan to fund 1-3 sites, but given the uncertainties of the FY12 federal budget we cannot give an exact number at this point.
GWA data are still required if sites have whole exome sequencing data available for submission to dbGaP as data on introns and promoter regions are also needed. Please note that whole genome sequencing data will meet this requirement if it is available for submission to dbGaP.
Yes, GWA data already in dbGaP does meet this qualification.
All genotype and phenotype data need to be submitted to dbGaP at the very latest prior to issuance of the notice of award (May 2012). The earlier the data can be submitted, the better, although dbGaP will not accept data without a sponsoring NIH Institute. If an award is contemplated, NHGRI staff will work with applicants to expedite dbGaP submission.
If eMERGE I phenotypes such as height, red/white blood cell indices, blood pressure, and ECG can be identified in both adults and children, it would be favorable if the pediatric sites also have them. In addition, sites with pediatric phenotypes that may not be measurable in adults will also be considered.
The sample size should be at least 3,000 pediatric patients with electronic medical records, phenotype data, and genotype data using platforms with at least 600k SNPs. In addition, the biorepository should have samples available for performing additional genetic studies, such as fine mapping and/or sequencing, and IRB approval permitting general research use of samples and data.
Parents, guardians and/or other adult family members (over the age of 21) with EMR and genotype data will not be counted towards the minimum number of 3,000 pediatric patients per site.
Studies from foreign institutions will not be supported in eMERGE Phase II.
As described in the RFA, "Consistent with achieving the goals of this program, NHGRI expects that Project Datasets (including phenotypic, environmental, and other relevant data) and associated genotyping data from the participating biorepositories be widely shared with the scientific community for research uses through NIH-supported databases such as dbGaP." Applicants needing to re-consent participants to meet the data sharing requirement should submit a supplemental document with a plan for re-consenting, the number of individuals from the proposed cohort that need re-consenting, and a timeline for completion of the re-consent process before Scientific Merit Review (November/December 2011).
Rongling Li, M.D., Ph.D.
Phone: (301) 594-6524
Lynne Haverkos, M.D., M.P.H.
Phone: (301) 435-6881
Last Reviewed: May 14, 2012