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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
Genomicsena-DATASET-GenCord2-22-05-2013-15:33:28:221-28 - samples
GENCORD2 RNA-seq BAM files using BWA
EGAD00001000425 | 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
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
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