Scientific Publications

Targeted exon sequencing by in-solution hybrid selection.

Publication TypeJournal Article
AuthorsBlumenstiel, B., Cibulskis K., Fisher S., DeFelice M., Barry A., Fennell T., Abreu J., Minie B., Costello M., Young G., Maquire J., Kernytsky A., Melnikov A., Rogov P., Gnirke A., and Gabriel S.
AbstractThis unit describes a protocol for the targeted enrichment of exons from randomly sheared genomic DNA libraries using an in-solution hybrid selection approach for sequencing on an Illumina Genome Analyzer II. The steps for designing and ordering a hybrid selection oligo pool are reviewed, as are critical steps for performing the preparation and hybrid selection of an Illumina paired-end library. Critical parameters, performance metrics, and analysis workflow are discussed.
Year of Publication2010
JournalCurrent protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.]
VolumeChapter 18
PagesUnit 18.4
Date Published (YYYY/MM/DD)2010/07/01
ISSN Number1934-8266
DOI10.1002/0471142905.hg1804s66
PubMedhttp://www.ncbi.nlm.nih.gov/pubmed/20582916?dopt=Abstract