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Deciphering 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-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.

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 -
EGAD00001001355 -
EGAD00001001413 -
EGAD00001001848 -
EGAD00001001977 -
EGAD00001002748 -
EGAD00001003340 -
EGAD00001003350 -
EGAD00001003406 -
EGAD00001004388 -
EGAD00001004389 -
EGAD00001004390 -
EGAD00001004586 HiSeq X Ten -
EGAD00001005728 -
EGAD00001008497 HiSeq X Ten 3
EGAD00001010136 -
EGAD00001010137 -
EGAD00010000702 1
EGAD00010001598 Illumina HumanCoreExome-24v1-0 3000
EGAD00010001600 Illumina HumanCoreExome-24v1-1 8207
EGAD00010001602 Illumina SangerDDD_OmniExPlusv1_15019773 3822
EGAD00010001604 Illumina HumanCoreExome-24v1 6987
EGAD00010001606 Illumina SangerDDD_OmniExPlusv1_15019773 MiSeq 2225
EGAD00010002567 Illumina Global Screening Array 1140
EGAD00010002568 Illumina Global Screening Array 9534
EGAD00010002569 Illumina Global Screening Array 9846
Publications Citations
Large-scale discovery of novel genetic causes of developmental disorders.
Nature 519: 2015 223-228
639
Absence of heterozygosity due to template switching during replicative rearrangements.
Am J Hum Genet 96: 2015 555-564
34
B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability.
J Clin Invest 125: 2015 3051-3062
60
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.
Nat Genet 47: 2015 1363-1369
94
Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders.
Nat Neurosci 19: 2016 571-577
241
BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription.
Am J Hum Genet 99: 2016 253-274
84
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.
Nat Genet 48: 2016 1060-1065
217
Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy.
Am J Hum Genet 99: 2016 683-694
47
Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia.
Nat Genet 48: 2016 1349-1358
57
Prevalence and architecture of de novo mutations in developmental disorders.
Nature 542: 2017 433-438
700
Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders.
Eur J Hum Genet 25: 2017 669-679
41
Detection of structural mosaicism from targeted and whole-genome sequencing data.
Genome Res 27: 2017 1704-1714
29
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
Am J Hum Genet 101: 2017 768-788
76
BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndrome.
Nat Genet 50: 2018 329-332
64
De novo mutations in regulatory elements in neurodevelopmental disorders.
Nature 555: 2018 611-616
126
Common genetic variants contribute to risk of rare severe neurodevelopmental disorders.
Nature 562: 2018 268-271
151
Quantifying the contribution of recessive coding variation to developmental disorders.
Science 362: 2018 1161-1164
89
Pathogenicity and selective constraint on variation near splice sites.
Genome Res 29: 2019 159-170
41
Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome.
Clin Genet 95: 2019 693-703
21
Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP.
Nat Commun 10: 2019 2373
54
Exome-wide assessment of the functional impact and pathogenicity of multinucleotide mutations.
Genome Res 29: 2019 1047-1056
23
Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data.
Nat Commun 10: 2019 2985
36
AVADA: toward automated pathogenic variant evidence retrieval directly from the full-text literature.
Genet Med 22: 2020 362-370
12
Contribution of retrotransposition to developmental disorders.
Nat Commun 10: 2019 4630
34
GTX.Digest.VCF: an online NGS data interpretation system based on intelligent gene ranking and large-scale text mining.
BMC Med Genomics 12: 2019 193
3
AMELIE speeds Mendelian diagnosis by matching patient phenotype and genotype to primary literature.
Sci Transl Med 12: 2020 eaau9113
34
SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect.
Brain 143: 2020 2380-2387
29
Evidence for 28 genetic disorders discovered by combining healthcare and research data.
Nature 586: 2020 757-762
209
Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy.
Am J Hum Genet 108: 2021 176-185
11
The contribution of X-linked coding variation to severe developmental disorders.
Nat Commun 12: 2021 627
21
Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms.
Am J Hum Genet 108: 2021 1083-1094
31
Detecting cryptic clinically relevant structural variation in exome-sequencing data increases diagnostic yield for developmental disorders.
Am J Hum Genet 108: 2021 2186-2194
9
Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases.
Brief Bioinform 23: 2022 bbac019
15
Genetic and chemotherapeutic influences on germline hypermutation.
Nature 605: 2022 503-508
29
X-CAP improves pathogenicity prediction of stopgain variants.
Genome Med 14: 2022 81
0
Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.
Proc Natl Acad Sci U S A 119: 2022 e2203491119
17
IMPROVE-DD: Integrating multiple phenotype resources optimizes variant evaluation in genetically determined developmental disorders.
HGG Adv 4: 2023 100162
1
Hypothesis-free phenotype prediction within a genetics-first framework.
Nat Commun 14: 2023 919
1
Evaluation of in silico pathogenicity prediction tools for the classification of small in-frame indels.
BMC Med Genomics 16: 2023 36
2
Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland.
N Engl J Med 388: 2023 1559-1571
31
Sex difference contributes to phenotypic diversity in individuals with neurodevelopmental disorders.
Front Pediatr 11: 2023 1172154
0
Developing a cluster-based approach for deciphering complexity in individuals with neurodevelopmental differences.
Front Pediatr 11: 2023 1171920
0
Refined preferences of prioritizers improve intelligent diagnosis for Mendelian diseases.
Sci Rep 14: 2024 2845
0
Investigating the role of common cis-regulatory variants in modifying penetrance of putatively damaging, inherited variants in severe neurodevelopmental disorders.
Sci Rep 14: 2024 8708
1