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Title: Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability      
dateReleased:
11-06-2013
description:
Intellectual disability is a common condition that carries lifelong severe medical and developmental consequences. The causes of intellectual disability (ID) remain unknown for the majority of patients due to the extensive clinical and genetic heterogeneity of this disorder. De novo mutations may play an important role in ID as most individuals with ID present as isolated cases without family history and/or clear syndromic indication. In addition, the involvement of such mutations have recently been demonstrated in a small number of individuals with ID. Here we evaluate the diagnostic potential and role of de novo mutations in a cohort of 100 patients with ID of unknown cause using family-based exome sequencing. Single end short-read (50 bp) SOLiD 4 sequencing data for 300 individuals, constituting 100 patient-parent trios. For more details please read; . Dataset is created by RUNMC (Radboud University, Nijmegen Medical Center), partner of Geuvadis consortium ().
privacy:
not applicable
aggregation:
instance of dataset
ID:
E-GEUV-5
refinement:
raw
keywords:
functional genomics
dateModified:
05-02-2014
creators:
RUNMC
availability:
available
types:
gene expression
name:
Homo sapiens
name:
family based design
accessURL: https://www.ebi.ac.uk/arrayexpress/files/E-GEUV-5/E-GEUV-5.raw.1.zip
storedIn:
ArrayExpress
qualifier:
gzip compressed
format:
TXT
accessType:
download
authentication:
none
authorization:
none
accessURL: https://www.ebi.ac.uk/arrayexpress/files/E-GEUV-5/E-GEUV-5.processed.1.zip
storedIn:
ArrayExpress
qualifier:
gzip compressed
format:
TXT
accessType:
download
authentication:
none
authorization:
none
abbreviation:
EBI
homePage: http://www.ebi.ac.uk/
ID:
SCR:004727
name:
European Bioinformatics Institute
homePage: https://www.ebi.ac.uk/arrayexpress/
ID:
SCR:002964
name:
ArrayExpress