Login
Register
Need Help?
ABOUT
ABOUT THE EGA
EGA
Privacy Notice
Security
Team
STATISTICS
Bibliography
Growth
Community
Archive
Distribution
Catalog
PROJECTS AND FUNDERS
Projects
Funders
GA4GH
Federated EGA
Beacon
DISCOVERY
CATALOGUE
Studies
Datasets
DACs
Synthetic Data
METADATA
Search Box
Public Metadata API
SUBMISSION
DATA
File preparation
Uploading files
METADATA
EGA Schema
Sequencing & Phenotype
Submitter Portal
Submitter Portal API
Array
Programmatic Submission XML
ACCESS
DATA ACCESS COMMITTEE
What is a DAC?
Best Practices
DAC Portal
Data Use Conditions
REQUEST DATA
How to request data?
Quality Control Reports
DOWNLOAD
Metadata
Files
PyEGA3
Live Outbox
Visualisation
FUSE Client
EGA QuickView
Tips on how to search
DACs
EGAC00001000787
Institut Pere Mata Data Access Committee
Request Access
This DAC controls 1 dataset
Dataset ID
Description
Technology
Samples
EGAD00001004213
Sequences from 95 subjects presenting intellectual disability (ID) and 98 subjects presenting intellectual disability and a diagnosis of autism spectrum disorder (ASD). The mtDNA was amplified by long-range PCR with 3 pairs of primers producing overlapping fragments. The three fragments were mixed in equimolar ratios and each sample was sequenced in an Ion Torrent Personal Machine according to manufacturer's user guide (reference genome: NC_012920.1 (rCRS)).
193