Identification of genetic variants using bar-coded multiplexed sequencing View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2008-10

AUTHORS

David W Craig, John V Pearson, Szabolcs Szelinger, Aswin Sekar, Margot Redman, Jason J Corneveaux, Traci L Pawlowski, Trisha Laub, Gary Nunn, Dietrich A Stephan, Nils Homer, Matthew J Huentelman

ABSTRACT

We developed a generalized framework for multiplexed resequencing of targeted human genome regions on the Illumina Genome Analyzer using degenerate indexed DNA bar codes ligated to fragmented DNA before sequencing. Using this method, we simultaneously sequenced the DNA of multiple HapMap individuals at several Encyclopedia of DNA Elements (ENCODE) regions. We then evaluated the use of Bayes factors for discovering and genotyping polymorphisms. For polymorphisms that were either previously identified within the Single Nucleotide Polymorphism database (dbSNP) or visually evident upon re-inspection of archived ENCODE traces, we observed a false positive rate of 11.3% using strict thresholds for predicting variants and 69.6% for lax thresholds. Conversely, false negative rates were 10.8-90.8%, with false negatives at stricter cut-offs occurring at lower coverage (<10 aligned reads). These results suggest that >90% of genetic variants are discoverable using multiplexed sequencing provided sufficient coverage at the polymorphic base. More... »

PAGES

887-893

Journal

TITLE

Nature Methods

ISSUE

10

VOLUME

5

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  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/nmeth.1251

    DOI

    http://dx.doi.org/10.1038/nmeth.1251

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1003153857

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/18794863


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