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GenomicsEGAS00001000775-sc-2022-01-24T09:28:01Z - samples
CRAM files and VCF for DDD_1 and their parents. Also de novo mutations file for hypermutated DDD_1 child as described in the manuscript ‘Genetic and chemotherapeutic influences of germline hypermutation’ by Kaplanis et al. which will be published in Nature shortly.
EGAD00001008497 | EGA
GenomicsSC_DDD-G-5
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 Illumi...
EGAD00010001606 | EGA
GenomicsDeciphering Developmental Disorders (DDD)
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-res...
EGAS00001000775 | EGA
GenomicsGSA pilot raw data
Unfiltered genotype data for a pilot study (Batch 1) of 1,140 DDD Study participants (and 12 "Empty" samples). Samples include 380 mothers, 382 fathers and 378 probands, and form 376 trios. Most of the probands have been previously genoyped on the llumina HumanCoreExome BeadChip (EGAD00010...
EGAD00010002567 | EGA
GenomicsGSA bigbatch raw data
Unfiltered genotype data for a larger batch (Batch 2) of 8,697 DDD Study participants (and 1 "Blank" sample). Samples include 2,858 mothers, 2,857 fathers and 2,982 probands, and form 2,918 trios. Most of the probands have been previously genoyped on the llumina HumanCoreExome BeadChip (EG...
EGAD00010002569 | EGA
GenomicsSC_DDD-G-4
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 sta...
EGAD00010001604 | EGA
GenomicsEGAS00001000775-sc-2023-03-15T11:18:45Z - samples
Candidate diagnostic variants reported into DECIPHER by 4 April 2022, annotated with clinical and automated pathogenicity assertions (see DOI: 10.1056/NEJMoa2209046). Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland, Wright et al, NEJM 2023.
EGAD00001010137 | EGA
GenomicsSC_DDD-G-3
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
EGAD00010001602 | EGA
Genomicsena-DATASET-SC-30-04-2015-15:06:30:503-5 - samples
DDD DATAFREEZE 2013-12-18: 1133 trios - VCF files (Ref: DDD Nature 2015)
EGAD00001001355 | EGA
GenomicsEGAS00001000775-sc-20161028 - samples
DDD DATAFREEZE 2014-11-04: 4293 trios - exome sequence CRAM files
EGAD00001002748 | EGA
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