Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

2 Datasets 1 Publication

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

Publications	Citations
QueryOR: a comprehensive web platform for genetic variant analysis and prioritization. Bertoldi L, Forcato C, Vitulo N, Birolo G, De Pascale F, Feltrin E, Schiavon R, Anglani F, Negrisolo S, Zanetti A, D'Avanzo F, Tomanin R, Faulkner G, Vezzi A, Valle G. BMC Bioinformatics 18: 2017 225	18