Dataset

Whole Exome Sequencing of Spanish Patients diagnosed with rare ophtalmogenetic disorders.

Dataset ID Technology Samples
EGAD00001005746 unspecified 4

Dataset Description

Whole Exome sequencing of a set of Spanish patients suffering rare genetic diseases. The set consists of 4 patients, one was diagnosed with Retinitis Pigmentosa (RP-1629), another one was diagnosed with Macular Dystrophy (MD-0235) and two were diagnosed with Leber's Congenital Amaurosis (LCA-0081 and LCA-0103).

Data Use Conditions

DS NPU IRB MOR US PS IS RTN

See further information on Data Use Conditions

Label Code Version Modifier
disease specific research DUO:0000007 2019-01-07 MONDO:0020242; MONDO:0019172; MONDO:0019200; MONDO:0018998
not for profit, non commercial use only DUO:0000018 2019-01-07
ethics approval required DUO:0000021 2019-01-07
publication moratorium DUO:0000024 2019-01-07
user specific restriction DUO:0000026 2019-01-07
project specific restriction DUO:0000027 2019-01-07
institution specific restriction DUO:0000028 2019-01-07
return to database or resource DUO:0000029 2019-01-07