Tetralogy of Fallot Exome Trios - EGA European Genome-Phenome Archive

Study

Tetralogy of Fallot Exome Trios

Study ID	Alternative Stable ID	Type
EGAS00001000071		Other

Study Description

Exome sequencing of 30 parent-offspring trios to >50X mean depth, where the offspring has sporadic TOF, to identify potential causal de novo mutations. We will use the exome plus design for pulldown that incorporates ~6.8Mb of additional regulatory sequences in addition to the ~50Mb GENCODE exome.

Study Datasets 1 dataset.

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Dataset ID	Description	Technology	Samples
EGAD00001000344	Exome sequencing of 30 parent-offspring trios to >50X mean depth, where the offspring has sporadic TOF, to identify potential causal de novo mutations. We will use the exome plus design for pulldown that incorporates ~6.8Mb of additional regulatory sequences in addition to the ~50Mb GENCODE exome. Exome sequencing of 30 parent-offspring trios to >50X mean depth, where the offspring has sporadic TOF, to identify potential causal de novo mutations. We will use the exome plus design for pulldown that incorporates ~6.8Mb of additional regulatory sequences in addition to the ~50Mb GENCODE exome.	Illumina HiSeq 2000	90

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