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URMC / Labs / Iqbal Lab / Projects / Retrospective Analysis of DNA Array Data for the Identification of Novel DNA Variants Associated

Retrospective Analysis of DNA Array Data for the Identification of Novel DNA Variants Associated with Pediatric Congenital Lung and Heart Disease

The principal investigator on this project is Thomas J. Mariani, PhD, the co-investigators are Anwar Iqbal, PhD, Kate Ackerman, MD, and Rachel Diamond, MD.

The main objective of the proposed study is to facilitate the identification of copy number variations (CNVs), not previously defined as pathological, that are commonly associated with pathogenesis of a specific disease or disease-related phenotype. Specifically, our efforts will attempt to characterize genetic alterations predictive of, or associated with, clinically relevant outcomes in pediatric populations, with a focus on those born prematurely and/or at high risk for chronic lung disease and those with congenital structural defects of the heart, lungs, or diaphragm.

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