Study
Tetralogy of fallot whole-exome sequencing
Study ID | Alternative Stable ID | Type |
---|---|---|
EGAS00001003302 | Other |
Study Description
829 adult and child probands of Northern European ancestry presenting with TOF were recruited from nine centres: seven in the UK, Leuven (Belgium), and Sydney (Australia). Patients sequenced exhibited no clinical features of recognised syndromes, extra-cardiac abnormalities or learning difficulties. All samples were screened for the 22q11.2 deletion associated with TOF prior to sequencing to ensure that this was not present. Samples were sequenced on HiSeq2000 and reads aligned using BWA.
Study Datasets 1 dataset.
Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data
Dataset ID | Description | Technology | Samples |
---|---|---|---|
EGAD00001004469 |
829 bam files from exome sequencing of human tetralogy of fallot patients
|
Illumina HiSeq 2000 | 829 |
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