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 20 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
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
EGAD00001003340
DDD DATAFREEZE 2016-10-03: 7831 trios - VCF files
24661
EGAD00001003350
DDD DATAFREEZE 2016-10-03: 7831 trios - phenotypic and family descriptions
24664
EGAD00001003406
DDD DATAFREEZE 2016-10-03: 7831 trios - exome sequence CRAM files
24694
EGAD00001004388
DDD DATAFREEZE 2017-12-15: 13,462 trios and probands only - phenotypic and family descriptions
32226
EGAD00001004389
DDD DATAFREEZE 2017-12-15: 13,462 trios and probands only - exome sequence VCF files
32226
EGAD00001004390
DDD DATAFREEZE 2017-12-15: 13,462 trios and probands only - exome sequence CRAM files
32226
EGAD00001004586
Variants and WGS data for Gardner et al. 2018 (biorxiv 471375). One VCF each for Alu, L1, and SVA. Flat text file and WGS for processed pseudogenes.
HiSeq X Ten 32226
EGAD00001005728
aCGH CNV detection by CNsolidate for 6,827 DDD probands
6827
EGAD00010000702
SNP-chip genotyping data for one proband in the DDD study (Ref : Carvalho AJHG 2015)
1
EGAD00010001598
Batch 1 of unfiltered genotype data for DDD Study patients (N=2,997), some of which were used in the neurodevelopmental disorder discovery GWAS (Niemi et al., Nature 2018). Samples were genotyped on the Illumina HumanCoreExome BeadChip. QC'd data is available in release EGAD00010001604
Illumina HumanCoreExome-24v1-0 3000
EGAD00010001600
Batch 2 of unfiltered genotype for DDD Study patients (N=8,286), some of which were used in the neurodevelopmental disorder discovery GWAS (Niemi et al., Nature 2018). Samples were genotyped on the Illumina InfiniumCoreExome Beadchip. QC'd data is available in release EGAD00010001604
Illumina HumanCoreExome-24v1-1 8207
EGAD00010001602
Unfiltered genotype data for DDD Study trios (patient and parents) (N=2,166 samples), some of which were used for replication of neurodevelopmental disorder polygenic risk (Niemi et al., Nature 2018). Samples were genotyped on the Illumina HumanOmniExpress BeadChip
Illumina SangerDDD_OmniExPlusv1_15019773 3822
EGAD00010001604
Post-QC (pre-imputation) genotype data for N=6,983 DDD probands included in the neurodevelopmental disorder discovery GWAS (Niemi et al., Nature 2018). Consists of filtered set of samples and variants from EGAD00010001598 and EGAD00010001600. Includes patient HPO phenotype terms and GWAS summary statistics (including imputed variants). Samples were genotyped on the Illumina HumanCoreExome BeadChip and Illumina InfiniumCoreExome Beadchip
Illumina HumanCoreExome-24v1 6987
EGAD00010001606
Post-QC (pre-imputation) genotype data for N=2,166, a subset of trios described in EGAD00010001602. These data form N=722 complete trios in which the proband has a neurodevelopmental phenotype (Niemi et al. Nature 2018). Includes HPO phenotype terms for patients. Samples were genotyped on the Illumina HumanOmniExpress BeadChip
Illumina SangerDDD_OmniExPlusv1_15019773,MiSeq 2225

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