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Identification and correction of systematic error in high-throughput sequence data

机译:高通量序列数据中系统错误的识别和纠正

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摘要

BackgroundA feature common to all DNA sequencing technologies is the presence of base-call errors in the sequenced reads. The implications of such errors are application specific, ranging from minor informatics nuisances to major problems affecting biological inferences. Recently developed "next-gen" sequencing technologies have greatly reduced the cost of sequencing, but have been shown to be more error prone than previous technologies. Both position specific (depending on the location in the read) and sequence specific (depending on the sequence in the read) errors have been identified in Illumina and Life Technology sequencing platforms. We describe a new type of systematic error that manifests as statistically unlikely accumulations of errors at specific genome (or transcriptome) locations.
机译:背景技术所有DNA测序技术共有的一个特征是测序读物中存在碱基检出错误。此类错误的含义是特定于应用程序的,从较小的信息学滋扰到影响生物学推断的重大问题。最近开发的“下一代”测序技术已大大降低了测序成本,但已证明比以前的技术更容易出错。在Illumina和Life Technology测序平台中已识别出位置特定(取决于读取位置)和序列特定(取决于读取序列)错误。我们描述了一种新型的系统错误,该错误表现为在特定基因组(或转录组)位置上统计上不太可能的错误累积。

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