Summary
Down syndrome (DS) leads to a significant risk for structural birth defects and health conditions, all presenting with substantial variability in severity. We have obtained whole genome sequencing (WGS) on approximately 1700 probands with Down syndrome (DS) via three service awards. In this R03, we request funds to enrich the available phenotype data on this established DS-WGS cohort (KF-X01-DS-CHD dbGaP accession number phs002330) and harmonize these data with other resources to ensure maximum impact of this first-of-its kind genotype/phenotype investment in DS research.