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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
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
GenomicsDown syndrome SNPs - samples
Down syndrome SNP genotyping data
EGAD00010000464 | EGA
GenomicsDown syndrome CNVs - samples
Down syndrome CNV genotyping data
EGAD00010000466 | EGA
GenomicsThe complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome
Here we aimed to contribute to the description of the genetic architecture of Congenital heart defect (CHD) in Down syndrome (DS), and report the results of a genome-wide association study using samples from DS individuals with and without CHD. CHD is a common developmental defect of DS occurring in...
EGAS00000000129 | EGA
GenomicsDown syndrome Data Access Committee (DS-DAC)
Data Access Committee EGAC01000000023
EGAC01000000023 | EGA
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