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Closing gaps in the human genome using sequencing by synthesis.


ABSTRACT: The most recent release of the finished human genome contains 260 euchromatic gaps (excluding chromosome Y). Recent work has helped explain a large number of these unresolved regions as 'structural' in nature. Another class of gaps is likely to be refractory to clone-based approaches, and cannot be approached in ways previously described. We present an approach for closing these gaps using 454 sequencing. As a proof of principle, we closed all three remaining non-structural gaps in chromosome 15.

SUBMITTER: Garber M 

PROVIDER: S-EPMC2718494 | biostudies-literature | 2009

REPOSITORIES: biostudies-literature

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Closing gaps in the human genome using sequencing by synthesis.

Garber Manuel M   Zody Michael C MC   Arachchi Harindra M HM   Berlin Aaron A   Gnerre Sante S   Green Lisa M LM   Lennon Niall N   Nusbaum Chad C  

Genome biology 20090602 6


The most recent release of the finished human genome contains 260 euchromatic gaps (excluding chromosome Y). Recent work has helped explain a large number of these unresolved regions as 'structural' in nature. Another class of gaps is likely to be refractory to clone-based approaches, and cannot be approached in ways previously described. We present an approach for closing these gaps using 454 sequencing. As a proof of principle, we closed all three remaining non-structural gaps in chromosome 15  ...[more]

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