Genome sequencing of oesophagus atresia families

To gain insight into gene variants and genes associated with isolated Oesophageal atresia (OA) we conducted whole genome sequencing on samples from three families with recurrent cases affected by congenital and isolated tracheoesophageal fistula (TEF).

Type: Other
Archiver: European Genome-Phenome Archive (EGA)

1 Dataset 1 Publication

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
EGAD00001006092	Then individuals from three families segregating esophagus atresia.		10

Publications	Citations
Whole genome sequencing of familial isolated oesophagus atresia uncover shared structural variants. Klar J, Engstrand-Lilja H, Maqbool K, Mattisson J, Feuk L, Dahl N. BMC Med Genomics 13: 2020 85	1