title: A comparative analysis of exome capture.
abstract: BACKGROUND
  Human exome resequencing using commercial target capture kits has been and is being used for sequencing large numbers of individuals to search for variants associated with various human diseases. We rigorously evaluated the capabilities of two solution exome capture kits. These analyses help clarify the strengths and limitations of those data as well as systematically identify variables that should be considered in the use of those data.
  
  
  RESULTS
  Each exome kit performed well at capturing the targets they were designed to capture, which mainly corresponds to the consensus coding sequences (CCDS) annotations of the human genome. In addition, based on their respective targets, each capture kit coupled with high coverage Illumina sequencing produced highly accurate nucleotide calls. However, other databases, such as the Reference Sequence collection (RefSeq), define the exome more broadly, and so not surprisingly, the exome kits did not capture these additional regions.
  
  
  CONCLUSIONS
  Commercial exome capture kits provide a very efficient way to sequence select areas of the genome at very high accuracy. Here we provide the data to help guide critical analyses of sequencing data derived from these products.
authors.affiliation: Cold Spring Harbor Laboratory, 1 Bungtown Road, Cold Spring Harbor, New York 11724, USA.
authors.forename: Jennifer S
authors.initials: JS
authors.lastname: Parla
authors.forename: Ivan
authors.initials: I
authors.lastname: Iossifov
authors.forename: Ian
authors.initials: I
authors.lastname: Grabill
authors.forename: Mona S
authors.initials: MS
authors.lastname: Spector
authors.forename: Melissa
authors.initials: M
authors.lastname: Kramer
authors.forename: W Richard
authors.initials: WR
authors.lastname: McCombie
mesh_terms: D000465:Algorithms; D001483:Base Sequence; D002460:Cell Line; D019295:Computational Biology; D016384:Consensus Sequence; D004247:DNA / Q000235:genetics; D059472:Exome; D015723:Gene Library; D015894:Genome, Human; D060148:HapMap Project; D006801:Humans; D058977:Molecular Sequence Annotation; D016366:Open Reading Frames; D011933:Reagent Kits, Diagnostic / Q000592:standards*; D012680:Sensitivity and Specificity; D017422:Sequence Analysis, DNA / Q000379:methods*
chemical_list: D011933:Reagent Kits, Diagnostic; D004247:DNA