Study

Intellectual Disability cases with parents (trios) or affected sibs (sibpairs)

Study ID Alternative Stable ID Type
EGAS00001003968 Other

Study Description

Samples from ID cases negative for CNV through array-CGH were submitted to exome sequencing. Families with one affected individual underwent trio exome sequencing for identification of de novo variants. Families with more than one affected child underwent sibpair sequencing for identificatio of shared recessive or x-linked variants.

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
EGAD00001005442
Exome sequencing of ID trios and sibpairs
Illumina HiSeq 2000 123

Who archives the data?

There are no publications available