Exome sequencing of two siblings with a neurodegenerative disorder identifies causative compound heterozygous variants in SLC5A6

• HMB DUO:0000006 (version: 2019-01-07)health or medical or biomedical researchThis data use permission indicates that use is allowed for health/medical/biomedical purposes; does not include the study of population origins or ancestry.
• US DUO:0000026 (version: 2019-01-07)user specific restrictionThis data use modifier indicates that use is limited to use by approved users.
• PS DUO:0000027 (version: 2019-01-07)project specific restrictionThis data use modifier indicates that use is limited to use within an approved project.

Access Policy Document for SA Pathology

European Bioinformatics Institute European Molecular Biology LaboratoryWellcome Trust Genome CampusHinxton, Cambridge, CB10 1SDUnited KingdomDAC Name: EGAC00001000220DAC Accession: ena-DAC-sacgf-04-08-2014-07:09:22:971-98This document specifies the policy for granting access to the European Genome-phenome Archive (EGA) secure Web based tools for managing data access permissions to the data stored in the EGA database. Access is granted to those Data Access Committee members named in this document by Paul Flicek, head of Genes, Genomes and Variation.Conditions of access:The account holder will abide by all current and future policies of the EBI for computer use as well as computer use policies of the European Molecular Biology Laboratory (EMBL), of which the EBI is a part. All EGA specific policies and standard operating procedures (SOPs) must also be followed. All applicable policies will be provided to the authorized users. Method of access:The EBI will create a personal account for the authorized person. The account username and password together with a RSA key provide access to the secure EGA infrastructure. A separate document with detailed guidelines on how to access and use these tools is provided to each account holder. The EGA helpdesk provides training when needed.Review:All individuals access to the EGA user authorization tools will be reviewed annually by Paul Flicek. Any staff changes affecting the authorized person must be provided immediately to Paul Flicek (flicek@ebi.ac.uk).Authorized Data Access Committee user:Dr. A. W. SchreiberACRF Cancer Genomics Facility, Centre for Cancer BiologySA PathologyFrome Road, Adelaide SA 5000Australiaandreas.schreiber@adelaide.edu.auSignature of authorized user indicating that this policy has been read and understood.Supervisor of Authorized user:Prof Hamish S. Scott , BSc (Hons), PhD, FFSc (RCPA)Director, ACRF Cancer Genomics Facilityhamish.scott@health.sa.gov.auSignature supervisor of authorized user indicating that this policy has been read and understood