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TranscriptomicsComparative genomic hybridization of human blood samples spiked with one or two copies of individual human chromosomes to assess array performance
Data generated in the validation of a large-insert clone DNA microarray covering the entire human genome in tiling path resolution, which we have used to identify copy number variation in human populations. Array performance was extensively tested by a series of validation assays. These included...
ORGANISM(S): Homo sapiens 
2006-08-14 | E-TABM-124 | biostudies-arrayexpress
TranscriptomicsComparative genomic hybridization of DNA from humans from different populations in self-self hybridizations, replicate experiments and independent validations of copy number variations to assess array performance
Data generated in the validation of a large-insert clone DNA microarray covering the entire human genome in tiling path resolution, which we have used to identify copy number variation in human populations. Array performance was extensively tested by a series of validation assays. These included...
ORGANISM(S): Homo sapiens 
2006-08-14 | E-TABM-123 | biostudies-arrayexpress
TranscriptomicsGenome-Wide Analysis of Somatic Copy Number Alterations and Gene Expression in Metastatic Melanoma
This SuperSeries is composed of the SubSeries listed below. Refer to individual Series
ORGANISM(S): Homo sapiens 
2011-04-07 | E-GEOD-23056 | biostudies-arrayexpress
TranscriptomicsGenome-Wide Analysis of Somatic Copy Number Alterations and Gene Expression in Metastatic Melanoma: RNA-Seq
All cancers are diseases of the genome. A combination of somatic point mutations, focal amplifications and deletions, and chromosome level aberrations conspire to disrupt gene expression and the interplay between signaling pathways that control normal growth and tissue homeostasis. Here we investiga...
ORGANISM(S): Homo sapiens 
2011-04-07 | E-GEOD-22932 | biostudies-arrayexpress
TranscriptomicsGenome-Wide Analysis of Somatic Copy Number Alterations (CGH, SNP) and Gene Expression (RNA-seq) in Metastatic Melanoma
All cancers are diseases of the genome. A combination of somatic point mutations, focal amplifications and deletions, and chromosome level aberrations conspire to disrupt gene expression and the interplay between signaling pathways that control normal growth and tissue homeostasis. Here we investiga...
ORGANISM(S): Homo sapiens 
2011-04-07 | E-GEOD-22928 | biostudies-arrayexpress
TranscriptomicsComparative genomic hybridization to investigate copy number variation in the human Hapmap sample NA15510
We conducted comparative genome hybridisation experiments to identify copy number variation on the Hapmap sample NA15510 (http://ccr.coriell.org/nigms/nigms_cgi/display.cgi?NA15510) on a high density chip. This sample has been previously studied at a lower resolution level and many validation experi...
ORGANISM(S): Homo sapiens 
2008-01-27 | E-TABM-203 | biostudies-arrayexpress
UnknownAccumulation of potential driver genes with genomic alterations predicts survival of high-risk neuroblastoma patients.
Not available
S-EPMC6048860 | biostudies-literature
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 SNPs - samples
Down syndrome SNP genotyping data
EGAD00010000464 | EGA
GenomicsDown syndrome CNVs - samples
Down syndrome CNV genotyping data
EGAD00010000466 | EGA
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