U1112 Data Access Comitee

Dac ID Contact Person Email Access Information
EGAC00001001344 Jean Muller jeanmuller [at] unistra [dot] fr No additional information is available

This DAC controls 1 dataset:

Dataset ID Description Technology Samples
EGAD00001005417 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). Illumina HiSeq 2000 5