DAC

Data Access Committee for Deciphering Developmental Disorders (DDD) Project

Dac ID Contact Person Email Access Information
EGAC00001000282 Data Sharing wtsidata1 [at] sanger [dot] ac [dot] uk No additional information is available

This DAC controls 18 datasets:

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
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=3,000), 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=8,304), 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=3,283 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=6,987 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=728 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