Targeted resequencing of candidate genes using selector probes

被引：44

作者：

Johansson, H. ^{[1
,2
]}

Isaksson, M. ^{[1
,2
]}

Sorqvist, E. Falk ^{[1
,2
]}

Roos, F. ^{[1
,2
]}

Stenberg, J. ^{[1
,2
]}

Sjoblom, T. ^{[1
]}

Botling, J. ^{[1
]}

Micke, P. ^{[1
]}

Edlund, K. ^{[1
]}

Fredriksson, S. ^{[3
]}

Kultima, H. Goransson ^{[4
]}

Ericsson, Olle ^{[1
,2
]}

Nilsson, Mats ^{[1
]}

机构：

[1] Uppsala Univ, Rudbeck Lab, Dept Genet & Pathol, SE-75185 Uppsala, Sweden

[2] Olink Genom, SE-75183 Uppsala, Sweden

[3] Olink Biosci, SE-75183 Uppsala, Sweden

[4] Uppsala Univ, Dept Med Sci, Akad Hosp, SE-75185 Uppsala, Sweden

来源：

NUCLEIC ACIDS RESEARCH | 2011年 / 39卷 / 02期

基金：

瑞典研究理事会;

关键词：

MULTIPLEX AMPLIFICATION; MUTATION DISCOVERY; DNA FRAGMENTS; EXON CAPTURE; LARGE SETS; GENOME; ENRICHMENT; SEQUENCES; PCR; DESIGN;

D O I：

10.1093/nar/gkq1005

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Targeted genome enrichment is a powerful tool for making use of the massive throughput of novel DNA-sequencing instruments. We herein present a simple and scalable protocol for multiplex amplification of target regions based on the Selector technique. The updated version exhibits improved coverage and compatibility with next-generation-sequencing (NGS) library-construction procedures for shotgun sequencing with NGS platforms. To demonstrate the performance of the technique, all 501 exons from 28 genes frequently involved in cancer were enriched for and sequenced in specimens derived from cell lines and tumor biopsies. DNA from both fresh frozen and formalin-fixed paraffin-embedded biopsies were analyzed and 94% specificity and 98% coverage of the targeted region was achieved. Reproducibility between replicates was high (R-2 = 0, 98) and readily enabled detection of copy-number variations. The procedure can be carried out in < 24 h and does not require any dedicated instrumentation.

引用

页数：13

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