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PMID: 20111037 Published · ppublish English Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Review

Target-enrichment strategies for next-generation sequencing.

Nature methods ·Vol. 7 ·No. 2 ·2010-02-00 ·Pages 111-8

Mamanova L, Coffey AJ, Scott CE, Kozarewa I, Turner EH, Kumar A, Howard E, Shendure J, Turner DJ

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.

MeSH Terms
Chromosome Mapping/trends Forecasting Gene Targeting/trends In Situ Hybridization/trends Molecular Probe Techniques/trends Polymerase Chain Reaction/trends Sequence Analysis, DNA/trends
Authors & Affiliations
9 authors, click to expand affiliations / ORCID
Mamanova Lira
The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK.
Coffey Alison J
Scott Carol E
Kozarewa Iwanka
Turner Emily H
Kumar Akash
Howard Eleanor
Shendure Jay
Turner Daniel J
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Article Info
Journal
Nature methods
Abbr.
Nat Methods
ISSN
1548-7105
Published
2010-02-00
Pages
111-8
Language
English
Region
United States
NLM ID
101215604
Subset
IM
Grants
NHGRI NIH HHS · R21 HG004749 · United States
NHLBI NIH HHS · 5R01HL094976 · United States
Wellcome Trust · WT079643 · United Kingdom
NHGRI NIH HHS · 5R21HG004749 · United States
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