<p>Our goal is to find genetic modifiers of major phenotypes in patients with 22q11.2 deletion syndrome, also known as DiGeorge syndrome or velo-cardio-facial syndrome. Whole exome sequencing was performed as part of a contract to the NHLBI, Resequencing and Genotyping Service. We have obtained cardiac phenotype information from the de-identified subjects enrolled in the study, either by echocardiography report or medical doctor report. All of the subjects have a 3 million base pair 22q11.2 deletion flanked by low copy repeats, LCR22, A-D.</p>

Whole Exome Sequence of 184 Individuals with 22q11.2 Deletion Syndrome

DiGeorge Syndrome study with SNP/CNV Genotypes (NGS), WXS data on dbGaP (184 participants)