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Tetralogy of Fallot Exome Trios

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.

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
EGAD00001000344 Illumina HiSeq 2000 90
Publications Citations
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.
Nat Genet 48: 2016 1060-1065