Comment[ArrayExpressAccession]	E-GEUV-5
MAGE-TAB Version	1.1	
Investigation Title	Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability.	
Comment[Submitted Name]	Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability.
Experiment 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; 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).	
Experimental Design	family based design	
Experimental Design Term Source REF	EFO	
Experimental Design Term Accession Number	EFO_0001429 	
Experimental Factor Name	family	family relationship
Experimental Factor Type	family	family relationship
Experimental Factor Term Source REF		EFO
Experimental Factor Term Accession Number		EFO_0004424
Person Last Name	RUNMC	
Person Email	j.veltman@gen.umcn.nl	
Person Affiliation	Department of Human Genetics, Radboud University Nijmegen Medical Center	
Person Roles	submitter	
Public Release Date	2013-11-06	
PubMed ID	23033978	
Publication DOI	10.1056/NEJMoa1206524	
Publication Author List	de Ligt J, Willemsen MH, van Bon BW, Kleefstra T, Yntema HG, Kroes T, Vulto-van Silfhout AT, Koolen DA, de Vries P, Gilissen C, del Rosario M, Hoischen A, Scheffer H, de Vries BB, Brunner HG, Veltman JA, Vissers LE.	
Publication Title	Diagnostic exome sequencing in persons with severe intellectual disability.	
Publication Status	published	
Protocol Name	P-MTAB-35918	P-MTAB-35919
Protocol Type	nucleic acid sequencing protocol	nucleic acid library construction protocol
Protocol Term Source REF	EFO	EFO
Protocol Term Accession Number	EFO_0004170	EFO_0004184
Protocol Description	AB SOLiD 4 System	Standard
Protocol Hardware	AB SOLiD 4 System	
Term Source Name	NCBI Taxonomy	EFO
Term Source File	http://www.ncbi.nlm.nih.gov/Taxonomy/	http://www.ebi.ac.uk/efo
Term Source Version		2.36
Comment[SecondaryAccession]	EGAS00001000287	
Comment[SequenceDataURI]	https://www.ebi.ac.uk/ega/datasets/EGAD00001000680	
Comment[AEExperimentType]	DNA-seq
Comment[SRASubmissionDate]	2012-05-30	
Comment[AEExperimentDisplayName]	Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
SDRF File	E-GEUV-5.sdrf.txt