U1112 Data Access Comitee - EGA European Genome-Phenome Archive

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

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

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

DAC

This DAC controls 1 dataset:

The European Genome-phenome Archive (EGA) is part of the ELIXIR infrastructure.