Enrichment of sequencing targets from the human genome by solution hybridization View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2009-10

AUTHORS

Ryan Tewhey, Masakazu Nakano, Xiaoyun Wang, Carlos Pabón-Peña, Barbara Novak, Angelica Giuffre, Eric Lin, Scott Happe, Doug N Roberts, Emily M LeProust, Eric J Topol, Olivier Harismendy, Kelly A Frazer

ABSTRACT

To exploit fully the potential of current sequencing technologies for population-based studies, one must enrich for loci from the human genome. Here we evaluate the hybridization-based approach by using oligonucleotide capture probes in solution to enrich for approximately 3.9 Mb of sequence target. We demonstrate that the tiling probe frequency is important for generating sequence data with high uniform coverage of targets. We obtained 93% sensitivity to detect SNPs, with a calling accuracy greater than 99%. More... »

PAGES

r116

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  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1186/gb-2009-10-10-r116

    DOI

    http://dx.doi.org/10.1186/gb-2009-10-10-r116

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1002355063

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/19835619


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