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Principal Investigator:  Kathleen Jablonski, Ph.D.

The goal of CNV Atlas of Human Development project is to develop mechanisms to automate the ongoing collection and storage of very large volumes of genotypic and phenotypic data from clinical laboratories and provide access to this resource for researchers and clinicians. The origins of these data are both pediatric and prenatal populations. While pediatric microarray data files are currently held at Emory University, prenatal data collected under the grant entitled "Prenatal Cytogenetic Diagnosis by Array-based Copy Number Analysis" (NIH" R01 HD055651) are currently collected and stored at the GEORGE WASHINGTON UNIVERSITY BIOSTATISTICS CENTER (GWU-BSC), which acts as the Data Coordinating Center for that study. The scope of work described below focuses largely on the planning and development of systems to fulfill the goals of the CNV Atlas of Human Development project as they pertain to prenatal data.

The GWU-BSC will collaborate with the grantee and with co-investigators at Columbia University to develop standard terminology relevant to phenotype. Appropriate prenatal methods for collection will be investigated and defined. The extent of the requirement for data validation checking for the prenatal phenotypic data will be identified and plans for implementation will be put in place. The GWU-BSC will have a specialized role in collaborating with personnel at the NCBI/dbGaP repository to achieve the correct format of phenotypic data files (for both pediatric and prenatal data) to allow easy integration into the repository structure.

In collaboration with IT staff at Emory University, the GWU-BSC will develop systems to de-identify and link the prenatal data files of different types for submission. While Emory staff will take the lead in handling the microarray analyzer-generated files, the GWU-BSC will implement similar systems for the prenatal group. A close working relationship will be maintained with the grantee in order to resolve together commonly shared problems in the systems development phase.

During the final 6 months of the grant period, GWU-BSC personnel will undertake extensive testing of systems developed. A limited number of new contributing sites will be involved in the testing of the system, but the software, processes and documentation will need to be developed to allow expansion to all current study centers and laboratories, and then to others. This study is funded by a subcontract with the Emory University under Grant awareded by NICHD 1RC2HD064525, 93.701 (2010-2012).)