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.

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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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