Metabolomics,Unknown,Transcriptomics,Genomics,Proteomics

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High-resolution comparative genome hybridization survey of healthy individuals (chromosome 22)


ABSTRACT: HighRes-CGH arrays that utilize ≈385,000 distinct oligonucleotide probes to cover chromosome 22 at 85 bp resolution (tiling path step size) were designed and synthesized as previously described (Urban et al., Proc Natl Acad Sci U S A. 2006;103(12):4534-9; see also GSE4240 record). Here, two healthy individuals were studied using the same experimental protocols as in Urban et al. See above, same as in Urban et al., Proc Natl Acad Sci U S A. 2006;103(12):4534-9; see also GSE4240 record. The overall goal of the study was the detection of the precise boundaries of deletions and amplifications. Maskless array synthesis was used to construct custom isothermal arrays containing up to 385,000 oligonucleotides, tiling the non-repetitive regions of chromosome 22. Genomic DNA isolated from patients (Cy3) was co-hybridized with a reference DNA pool (Promega; Cy5).

ORGANISM(S): Homo sapiens

SUBMITTER: Alexander Urban 

PROVIDER: E-GEOD-6010 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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Publications

Systematic prediction and validation of breakpoints associated with copy-number variants in the human genome.

Korbel Jan O JO   Urban Alexander Eckehart AE   Grubert Fabian F   Du Jiang J   Royce Thomas E TE   Starr Peter P   Zhong Guoneng G   Emanuel Beverly S BS   Weissman Sherman M SM   Snyder Michael M   Gerstein Mark B MB  

Proceedings of the National Academy of Sciences of the United States of America 20070605 24


Copy-number variants (CNVs) are an abundant form of genetic variation in humans. However, approaches for determining exact CNV breakpoint sequences (physical deletion or duplication boundaries) across individuals, crucial for associating genotype to phenotype, have been lacking so far, and the vast majority of CNVs have been reported with approximate genomic coordinates only. Here, we report an approach, called BreakPtr, for fine-mapping CNVs (available from http://breakptr.gersteinlab.org). We  ...[more]

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