Study

Deciphering Developmental Disorders (DDD)

Study ID Alternative Stable ID Type
EGAS00001000775 Other

Study Description

The Deciphering Developmental Disorders (DDD) study is a research collaboration between the Wellcome Trust Sanger Institute, the NHS clinical genetics services and families across the UK and Ireland. The project aims to improve the diagnosis of children with developmental disorders by using high-resolution microarray and massively parallel sequencing technologies on 12,000 children and their parents. Genetic changes that explain the child's symptoms will be displayed in the DECIPHER database (https://decipher.sanger.ac.uk). Extended datasets generated by the DDD project will be available in the European Genome-Phenome Archive with access carefully managed by a Data Access Committee.

Study Datasets 7 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
EGAD00001001114
DDD DATAFREEZE 2013-12-18: 1133 trios - exome sequence BAM files (Ref: DDD Nature 2015)
3335
EGAD00010000702
SNP-chip genotyping data for one proband in the DDD study (Ref : Carvalho AJHG 2015)
N/A
EGAD00001001355
DDD DATAFREEZE 2013-12-18: 1133 trios - VCF files (Ref: DDD Nature 2015)
3335
EGAD00001001413
DDD DATAFREEZE 2013-12-18: 1133 trios - README, family trios, phenotypes, validated DNMs (Ref: DDD Nature 2015)
3335
EGAD00001001848
DDD DATAFREEZE 2014-11-04: 4293 trios - VCF files
12539
EGAD00001001977
DDD DATAFREEZE 2014-11-04: 4293 trios - phenotypic and family descriptions
12539
EGAD00001002748
DDD DATAFREEZE 2014-11-04: 4293 trios - exome sequence CRAM files
12548

Who archives the data?

Publications

Citations

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