Metabolomics,Unknown,Transcriptomics,Genomics,Proteomics

Dataset Information

8-chip high-resolution aCGH experiment NA15510 vs. NA18505

ABSTRACT: We introduce high-throughput and massive paired-end mapping (PEM), a large-scale genome sequencing method to identify SVs 3 kb or larger that combines the rescue and capture of paired-ends of 3 kb fragments, massive 454 Sequencing, and a computational approach to map DNA reads onto a reference genome. PEM was used to map SVs in an African and putatively European individual and identified shared and divergent SVs relative to the reference genome. Overall, we fine-mapped more than 1000 SVs and documented that the number of SVs among humans is much larger than initially hypothesized; many of the SVs potentially affect gene function. The breakpoint junction sequences of more than 200 SVs were deduced with a novel pooling strategy and computational analysis. Array-CGH was used for validation. Keywords: array CGH 2 samples were analyzed with 8 different Nimblegen chips (385k); thus ~30M probes were used to interrogate copy number variants in NA15510 (using NA18505 as control) at high resolution.

ORGANISM(S): Homo sapiens

SUBMITTER: Jan Korbel

PROVIDER: E-GEOD-9002 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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Publications

Paired-end mapping reveals extensive structural variation in the human genome.

Korbel Jan O JO Urban Alexander Eckehart AE Affourtit Jason P JP Godwin Brian B Grubert Fabian F Simons Jan Fredrik JF Kim Philip M PM Palejev Dean D Carriero Nicholas J NJ Du Lei L Taillon Bruce E BE Chen Zhoutao Z Tanzer Andrea A Saunders A C Eugenia AC Chi Jianxiang J Yang Fengtang F Carter Nigel P NP Hurles Matthew E ME Weissman Sherman M SM Harkins Timothy T TT Gerstein Mark B MB Egholm Michael M Snyder Michael M

Science (New York, N.Y.) 20070927 5849

Structural variation of the genome involves kilobase- to megabase-sized deletions, duplications, insertions, inversions, and complex combinations of rearrangements. We introduce high-throughput and massive paired-end mapping (PEM), a large-scale genome-sequencing method to identify structural variants (SVs) approximately 3 kilobases (kb) or larger that combines the rescue and capture of paired ends of 3-kb fragments, massive 454 sequencing, and a computational approach to map DNA reads onto a re ...[more]

PMID: 17901297

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Project description:Postplasmic/PEM RNAs constitute a large class of cortical maternal RNAs with include at least 2 determinants (Macho1 and PEM1) involved in muscle differentiation, unequal cleavage and posterior patterning of the embryo. Two main classes have been defined - type I (localized in oocytes) and type II (localizing in embryos). Based on the fact that Vasa RNA - the only type II recognized in Ciona - segregates into B8.12 (germ) and sister B8.11 cells, while many others (including Macho1 and PEM1) segregate only into B8.11 (somatic) cells a first attempts at re-classifying these RNAs has been made. We have analyzed the associations of postplasmic/PEM RNAs with cortical structures in 2 ascidians species Ciona intestinalis and Phallusia mammillata using: - very high resolution fluorescent in situ hybridization localization in eggs and embryos and in their cortical fragments, - comparisons of RNAs extracted from whole oocytes and from isolated cortices using microarray analysis â screening of the Ciona intestinalis genome for the presence in 3â UTR regions of repeats containing the tri-nucleotide CAC motif (xCACx) followed by localization of xCACx rich RNAs using in situ hybridization. Based on our combined approaches we observe that: - 1) the vast majority of Ciona intestinalis postplasmic/PEM RNAs (including Ci-Vasa) are cortically localized in the eggs (type I) - 2) postplasmic/PEM RNAs are much more likely to contain xCACx motifs in their 3âUTR than other transcripts. Using this criterion we have found 2 new postplasmic/PEM RNAs: MnK and PSD - 3) some postplasmic/PEM RNAs are anchored to cER while others are located into granules. We therefore come to the conclusion that there are at least 2 distinct categories of postplasmic/PEM RNAs based on their cortical anchorage and cell fate: I) cER sub-domain associated postplasmic/PEM RNAs (Macho1 like) which segregate in the somatic B8.11 cells. II) postplasmic/PEM RNAs associated with (putative germ) granules (Vasa like) which in addition to B8.11 cells segregate into B8.12 germ cells. Two kinds of sample, Dye Swap design with 2 arrays

Dataset Information

8-chip high-resolution aCGH experiment NA15510 vs. NA18505

Publications

Paired-end mapping reveals extensive structural variation in the human genome.

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