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GenomicsDomains of genomewide gene expression dysregulation in Down syndrome
This SuperSeries is composed of the SubSeries listed below. Refer to individual Series
ORGANISM(S): Homo sapiens 
2014-04-08 | E-GEOD-55426 | biostudies-arrayexpress
TranscriptomicsModelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21 [RNA-seq]
Down syndrome (trisomy 21) is the most common viable chromosomal disorder with intellectual impairment and several other developmental abnormalities. Here, we report the generation and characterization of induced pluripotent stem cells (iPSCs) derived from monozygotic twins discordant for trisomy 21...
ORGANISM(S): Homo sapiens 
2013-12-01 | E-GEOD-52249 | biostudies-arrayexpress
GenomicsDomains of genomewide gene expression dysregulation in Down syndrome [Dnase HS mapping]
Trisomy 21 (T21) is the most frequent genetic cause of cognitive impairment. To assess the perturbations of gene expression in T21, and to eliminate the noise of the genomic variability, we studied the transcriptome of fetal fibroblasts from a pair of monozygotic twins discordant for T21. Here we sh...
ORGANISM(S): Homo sapiens 
2014-04-08 | E-GEOD-55425 | biostudies-arrayexpress
GenomicsIdentification of cis- and trans-regulatory variation modulating microRNA expression levels in human fibroblasts
MicroRNAs (miRNAs) are regulatory noncoding RNAs that affect the production of a significant fraction of human mRNAs via post-transcriptional regulation. Interindividual variation of the miRNA expression levels is likely to influence the expression of miRNA target genes and may therefore contribute ...
EGAS00000000056 | EGA
GenomicsPassive and active DNA methylation and the interplay with genetic variation in gene regulation
DNA methylation is an essential1 epigenetic mark whose role in gene regulation and its dependency on genomic sequence and environment are not yet fully understood2,3. In this study we provide novel insights into the mechanistic relationships between genetic variation, DNA methylation and transcripto...
EGAS00001000446 | EGA
GenomicsDomains of genomewide gene expression dysregulation in Down syndrome [RRBS]
Trisomy 21 (T21) is the most frequent genetic cause of cognitive impairment. To assess the perturbations of gene expression in T21, and to eliminate the noise of the genomic variability, we studied the transcriptome of fetal fibroblasts from a pair of monozygotic twins discordant for T21. Here we sh...
ORGANISM(S): Homo sapiens 
2014-04-08 | E-GEOD-55505 | biostudies-arrayexpress
GenomicsEGAD00000000027
eQTL data for European newborns
EGAD00000000027 | EGA
GenomicsGencord Data Access Committee
Data Access Committee EGAC00001000105
EGAC00001000105 | EGA
GenomicsGENCORD2_DNAmethylation - samples
GENCORD2 DNA methylation
EGAD00010000460 | EGA
Genomicsena-DATASET-GenCord2-27-05-2013-09:30:55:905-40 - samples
204 individuals were genotyped with the Illumina 2.5M Omni chip. Filtered genotypes were imputed into the 1000 genomes project European panel SNPs. Beagle R2 is indicated in VCF files for further filtering. See Materials and Methods in publication for details.
EGAD00001000428 | EGA
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