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首页> 外文期刊>Genomics >Large-insert genome analysis technology detects structural variation in Pseudomonas aeruginosa clinical strains from cystic fibrosis patients.
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Large-insert genome analysis technology detects structural variation in Pseudomonas aeruginosa clinical strains from cystic fibrosis patients.

机译：大插入基因组分析技术可检测来自囊性纤维化患者的铜绿假单胞菌临床菌株的结构变异。

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摘要

Large-insert genome analysis (LIGAN) is a broadly applicable, high-throughput technology designed to characterize genome-scale structural variation. Fosmid paired-end sequences and DNA fingerprints from a query genome are compared to a reference sequence using the Genomic Variation Analysis (GenVal) suite of software tools to pinpoint locations of insertions, deletions, and rearrangements. Fosmids spanning regions that contain new structural variants can then be sequenced. Clonal pairs of Pseudomonas aeruginosa isolates from four cystic fibrosis patients were used to validate the LIGAN technology. Approximately 1.5 Mb of inserted sequences were identified, including 743 kb containing 615 ORFs that are absent from published P. aeruginosa genomes. Six rearrangement breakpoints and 220 kb of deleted sequences were also identified. Our study expands the "genome universe" of P. aeruginosa and validates a technology that complements emerging, short-read sequencing methods that are better suited to characterizing single-nucleotide polymorphisms than structural variation.
机译：大插入基因组分析（LIGAN）是一种广泛应用的高通量技术，旨在表征基因组规模的结构变异。使用软件工具的基因组变异分析（GenVal）套件将来自查询基因组的Fosmid配对末端序列和DNA指纹与参考序列进行比较，以查明插入，缺失和重排的位置。然后可以对跨越含有新结构变体的区域的粘粒进行测序。来自四名囊性纤维化患者的铜绿假单胞菌克隆对被用来验证LIGAN技术。鉴定出大约1.5 Mb的插入序列，包括743 kb，包含已发表的铜绿假单胞菌基因组中不存在的615个ORF。还确定了六个重排断点和220 kb的缺失序列。我们的研究扩展了铜绿假单胞菌的“基因组宇宙”，并验证了一种补充新兴的短读测序方法的技术，该方法比结构变异更适合表征单核苷酸多态性。

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