Metabolomics,Unknown,Transcriptomics,Genomics,Proteomics

Dataset Information

0

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability.

ABSTRACT: 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; http://www.nejm.org/doi/full/10.1056/NEJMoa1206524. Dataset is created by RUNMC (Radboud University, Nijmegen Medical Center), partner of Geuvadis consortium (http://www.geuvadis.org).

INSTRUMENT(S): AB SOLiD 4 System

ORGANISM(S): Homo sapiens

SUBMITTER:  

PROVIDER: E-GEUV-5 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

Json Xml
altmetric image

Publications

<h4>Background</h4>The causes of intellectual disability remain largely unknown because of extensive clinical and genetic heterogeneity.<h4>Methods</h4>We evaluated patients with intellectual disability to exclude known causes of the disorder. We then sequenced the coding regions of more than 21,000 genes obtained from 100 patients with an IQ below 50 and their unaffected parents. A data-analysis procedure was developed to identify and classify de novo, autosomal recessive, and X-linked mutation  ...[more]

Similar Datasets

Genomics Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
| EGAS00001000287 | EGA
Transcriptomics De novo mutations in the genome organizer CTCF cause Intellectual Disability (RNA-Seq)
2013-06-01 | E-GEOD-46831 | biostudies-arrayexpress
Transcriptomics SNP arrays to confirm X-linkage in a family with idiopathic intellectual disability
2017-12-01 | E-MTAB-5903 | biostudies-arrayexpress
Genomics De novo mutations in the genome organizer CTCF cause Intellectual Disability (ChIP-Seq)
2013-06-01 | E-GEOD-46832 | biostudies-arrayexpress
Transcriptomics NONO mutations cause syndromic intellectual disability and inhibitory synaptic defects
2015-09-02 | E-MTAB-2895 | biostudies-arrayexpress
Transcriptomics NONO mutations cause syndromic intellectual disability and inhibitory synaptic defects
2015-09-02 | E-MTAB-2894 | biostudies-arrayexpress
Transcriptomics Wnt/β-catenin pathway and cell adhesion deregulation in CSDE1-related intellectual disability and autism spectrum disorders
2023-12-09 | GSE162954 | GEO
Genomics De novo mutations in the genome organizer CTCF cause Intellectual Disability
| PRJNA202441 | ENA
Genomics De novo mutations in the genome organizer CTCF cause Intellectual Disability (ChIP-Seq)
2013-06-01 | GSE46832 | GEO
Transcriptomics De novo mutations in the genome organizer CTCF cause Intellectual Disability (RNA-Seq)
2013-06-01 | GSE46831 | GEO