Study

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

Study ID Alternative Stable ID Type
EGAS00001000287 Exome Sequencing

Study Description

NA

Study Datasets 2 datasets.

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID Description Technology Samples
EGAD00001000277
High Quality Variant Call files, generated by bioscope, converted to vcf format. Complete dataset for all 300 samples.
202
EGAD00001000680
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
AB SOLiD 4 System 202

Who archives the data?

Publications

Citations

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