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MetabolomicsMetabolic phenotyping of urine from a dementia research cohort
To better understand the molecular mechanisms underpinning physiological variation in human populations, metabolic phenotyping approaches are increasingly being applied to studies involving hundreds and thousands of biofluid samples. Hyphenated ultra-performance liquid chromatography-mass spectromet...
2022-03-01 | MTBLS719 | MetaboLights
GenomicsDDD_Project_4296_Trio - samples
SNP-chip genotyping data for one proband in the DDD study (Ref : Carvalho AJHG 2015)
EGAD00010000702 | EGA
GenomicsSC_DDD-G-2
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
EGAD00010001600 | EGA
GenomicsSC_DDD-G-1
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
EGAD00010001598 | 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
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
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
GenomicsData Access Committee for Deciphering Developmental Disorders (DDD) Project
Data Access Committee EGAC00001000282
EGAC00001000282 | 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
Genomicsena-DATASET-SC-25-06-2015-08:18:42:607-3 - samples
DDD DATAFREEZE 2013-12-18: 1133 trios - README, family trios, phenotypes, validated DNMs (Ref: DDD Nature 2015)
EGAD00001001413 | EGA
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