WGS on patients with syndromic neurosensory disorder combining deafness and cataract

Dataset ID Technology Samples
EGAD00001005417 Illumina HiSeq 2000 5

Dataset Description

Disease: Severe congenital deafness, early onset cataracts and various neurological features

Family: 3 affected individuals originated from the same small village (Amarat) in the Kayseri region of Turkey and belonging to the same large extended consanguineous family.

Dataset: 5 BAM files. Whole-genome sequencing (WGS) was applied to the three affected individuals (II.2, II.4 and II.7) and two healthy individuals (II.1 and II.3).

Who controls access to this dataset

For each dataset that requires controlled access, there is a corresponding Data Access Committee (DAC) who determine access permissions. Access to actual data files is not managed by the EGA. If you need to request access to this data set, please contact:

U1112 Data Access Comitee
Contact person: Jean Muller
Email: jeanmuller [at] unistra [dot] fr
More details: EGAC00001001344


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