{"database":"EGA","file_versions":[],"scores":null,"additional":{"omics_type":["Genomics"],"dataset_type":["Illumina HiSeq 2500;ILLUMINA"],"full_dataset_link":["https://ega-archive.org/datasets/EGAD00001003564"],"sample_count":["46"],"description":["EGA dataset EGAD00001003564"],"repository":["EGA"],"title":["Exome sequencing of a cohort of Rett syndromelike patients (2017-08-16)"],"additional_accession":[]},"is_claimable":false,"name":"EGAS00001002059-sc-20170816 - samples","description":"The aim of the project is the definition of the molecular defect in a cohort of Rett-like patients negative for  mutations in known disease genes.  To this aim, a number of unrelated trios (patients plus parents) will be analysed by exome sequencing.\nThis data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/\nThis dataset contains all the data available for this study on 2017-08-16.","dates":{"updated":"2017-09-19 09:51:06"},"accession":"EGAD00001003564","cross_references":{"TAXONOMY":["9606"],"EGA":["EGAC00001000205","EGAS00001002059"]}}