Study

Whole Genome Sequencing of Two Family Trios with 22q.11.2 Deletion Syndrome

Study ID Alternative Stable ID Type
phs000837 Parent-Offspring Trios

Study Description

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.

Archive Link Archive Accession
dbGaP phs000837

Who archives the data?

There are no publications available