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Items: 3

1.

Towards a comprehensive structural variation map of an individual human genome for personalized medicine

(Submitter supplied) This SuperSeries is composed of the SubSeries listed below.
Organism:
Homo sapiens
Type:
SNP genotyping by SNP array; Genome variation profiling by SNP array; Genome variation profiling by genome tiling array
87 related Platforms
100 Samples
Download data: CEL, CHP, GFF, PAIR, TXT
Series
Accession:
GSE20290
ID:
200020290
2.

Agilent custom 24M array CGH data for the HuRef individual

(Submitter supplied) The ideal genome sequence for medical interpretation is complete and diploid, capturing the full spectrum of genetic variation. Toward this end, there has been progress in discovery of single nucleotide polymorphism (SNP) and small (<10bp) insertion/deletions (indels), but annotation of larger structural variation (SV) including copy number variation (CNV) has been less comprehensive, even with available diploid sequence assemblies. more...
Organism:
Homo sapiens
Type:
Genome variation profiling by genome tiling array
24 related Platforms
24 Samples
Download data: GFF, TXT
Series
Accession:
GSE20288
ID:
200020288
3.

Discovery of common Asian copy number variants using high-resolution array CGH

(Submitter supplied) Discovery of common Asian copy number variants using a novel integrated high-resolution array CGH and massively parallel DNA sequencing. We attempted to discover common Asian copy number variants (CNVs) from the DNA of 30 Asian women (10 Korean, 10 CHB (HapMap), 10 JPT (HapMap)) using a custom-designed 24M-oligonucleotide Agilent platform (1.1M X 24 slides). The reference sample for aCGH was NA10851 (HapMap CEPH). more...
Organism:
Homo sapiens
Type:
Genome variation profiling by genome tiling array
24 related Platforms
792 Samples
Download data: TXT
Series
Accession:
GSE19651
ID:
200019651
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