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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
TranscriptomicsRNA-seq of mouse ES cells depleted of MOF, MSL1, MSL2 or KANSL3
We have studied the regulatory potential of MYST1-(MOF)-containing MSL and NSL complexes in mouse embryonic stem cells (ESCs) and neuronal progenitors. We find that both complexes influence transcription by binding to promoters as well as TSS-distal enhancer regions. In contrast to flies, the MSL co...
ORGANISM(S): Mus musculus 
2014-06-03 | E-GEOD-57698 | biostudies-arrayexpress
MetabolomicsAntiviral metabolite 3'-Deoxy-3',4'-didehydro-cytidine is detectable in serum and identifies acute viral infections including COVID-19

BACKGROUND: There is a critical need for rapid viral infection diagnostics to enable prompt case identification in pandemic settings and support targeted antimicrobial prescribing.

METHODS: Using untargeted high-resolution liquid chromatography coupled with...

2022-02-10 | MTBLS718 | MetaboLights
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
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
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
GenomicsEGAS00001000775-sc-20161028 - samples
DDD DATAFREEZE 2014-11-04: 4293 trios - exome sequence CRAM files
EGAD00001002748 | EGA
GenomicsEGAS00001000775-sc-20151204 - samples
DDD DATAFREEZE 2014-11-04: 4293 trios - VCF files
EGAD00001001848 | EGA
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