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?
