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利用大规模平行测序技术在细菌中进行敏感且特异的多态性发现。

Sensitive, specific polymorphism discovery in bacteria using massively parallel sequencing.

作者信息

Nusbaum Chad, Ohsumi Toshiro K, Gomez James, Aquadro John, Victor Thomas C, Warren Robert M, Hung Deborah T, Birren Bruce W, Lander Eric S, Jaffe David B

机构信息

Broad Institute of Massachusetts Institute of Technology and Harvard University, 320 Charles Street, Cambridge, MA 02141, USA.

出版信息

Nat Methods. 2009 Jan;6(1):67-9. doi: 10.1038/nmeth.1286. Epub 2008 Dec 14.

Abstract

Our variant ascertainment algorithm, VAAL, uses massively parallel DNA sequence data to identify differences between bacterial genomes with high sensitivity and specificity. VAAL detected approximately 98% of differences (including large insertion-deletions) between pairs of strains from three species while calling no false positives. VAAL also pinpointed a single mutation between Vibrio cholerae genomes, identifying an antibiotic's site of action by identifying sequence differences between drug-sensitive strains and drug-resistant derivatives.

摘要

我们的变异识别算法VAAL利用大规模并行DNA序列数据,以高灵敏度和特异性识别细菌基因组之间的差异。VAAL检测到来自三个物种的菌株对之间约98%的差异(包括大的插入缺失),且未产生假阳性结果。VAAL还精准定位了霍乱弧菌基因组之间的一个单一突变,通过识别药敏菌株和耐药衍生物之间的序列差异来确定抗生素的作用位点。

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