title: Target-enrichment strategies for next-generation sequencing.
abstract: We have not yet reached a point at which routine sequencing of large numbers of whole eukaryotic genomes is feasible, and so it is often necessary to select genomic regions of interest and to enrich these regions before sequencing. There are several enrichment approaches, each with unique advantages and disadvantages. Here we describe our experiences with the leading target-enrichment technologies, the optimizations that we have performed and typical results that can be obtained using each. We also provide detailed protocols for each technology so that end users can find the best compromise between sensitivity, specificity and uniformity for their particular project.
authors.affiliation: The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK.
authors.forename: Lira
authors.initials: L
authors.lastname: Mamanova
authors.forename: Alison J
authors.initials: AJ
authors.lastname: Coffey
authors.forename: Carol E
authors.initials: CE
authors.lastname: Scott
authors.forename: Iwanka
authors.initials: I
authors.lastname: Kozarewa
authors.forename: Emily H
authors.initials: EH
authors.lastname: Turner
authors.forename: Akash
authors.initials: A
authors.lastname: Kumar
authors.forename: Eleanor
authors.initials: E
authors.lastname: Howard
authors.forename: Jay
authors.initials: J
authors.lastname: Shendure
authors.forename: Daniel J
authors.initials: DJ
authors.lastname: Turner
mesh_terms: D002874:Chromosome Mapping / Q000639:trends*; D005544:Forecasting; D018390:Gene Targeting / Q000639:trends*; D017403:In Situ Hybridization / Q000639:trends*; D015336:Molecular Probe Techniques / Q000639:trends*; D016133:Polymerase Chain Reaction / Q000639:trends*; D017422:Sequence Analysis, DNA / Q000639:trends*