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SRX000007: 454 sequencing of Human HapMap individual NA18505 genomic paired-end library
7 LS454 (454 GS FLX) runs: 3.3M spots, 913.7M bases, 2.1Gb downloads

Design: none provided
Submitted by: 454 Life Sciences (454MSC)
Study: Paired-end mapping reveals extensive structural variation in the human genome
show Abstracthide Abstract
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 reference genome. PEM was used to map SVs in an African and in a 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 determined with a novel pooling strategy and computational analysis. Our analysis provided insights into the mechanisms of SV formation in humans.
Sample: Coriell GM18505
SAMN00001583 • SRS000100 • All experiments • All runs
Organism: Homo sapiens
Library:
Name: SID2748
Instrument: 454 GS FLX
Strategy: WGS
Source: GENOMIC
Selection: RANDOM
Layout: PAIRED
Spot descriptor:
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Runs: 7 runs, 3.3M spots, 913.7M bases, 2.1Gb
Run# of Spots# of BasesSizePublished
SRR000001470,985129.5M298Mb2008-04-04
SRR000013478,304131.4M307.6Mb2008-04-04
SRR000019537,808147.9M347.2Mb2008-04-04
SRR000033476,737131.2M307Mb2008-04-04
SRR000047322,27988.3M208.2Mb2008-04-04
SRR000049506,408139M336.6Mb2008-04-04
SRR000061532,884146.3M348.5Mb2008-04-04

ID:
8

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