<p>Two subjects with 22q11.2 deletion syndromes (22q11DS) and their parents were recruited for a whole genome sequencing study to identify candidate genetic modifiers of the various phenotypes seen in 22q11DS. Both probands had a typical 3 megabase deletion on chromosome 22q11.2 but discordant phenotypes.</p>

Whole Genome Sequencing of Two 22q11DS Trios

Tetralogy of Fallot study with SNP Genotypes (NGS), WGS data on dbGaP (6 participants)