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Distinguishing low frequency mutations from RT-PCR and sequence errors in viral deep sequencing data

机译:区分RT-PCR的低频突变和病毒深度测序数据中的序列错误

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摘要

BackgroundRNA viruses have high mutation rates and exist within their hosts as large, complex and heterogeneous populations, comprising a spectrum of related but non-identical genome sequences. Next generation sequencing is revolutionising the study of viral populations by enabling the ultra deep sequencing of their genomes, and the subsequent identification of the full spectrum of variants within the population. Identification of low frequency variants is important for our understanding of mutational dynamics, disease progression, immune pressure, and for the detection of drug resistant or pathogenic mutations. However, the current challenge is to accurately model the errors in the sequence data and distinguish real viral variants, particularly those that exist at low frequency, from errors introduced during sequencing and sample processing, which can both be substantial.
机译:背景RNA病毒具有很高的突变率,并以大量,复杂和异质的种群存在于其宿主内,包括一系列相关但不相同的基因组序列。下一代测序通过对其基因组进行超深度测序,并随后鉴定出种群中的所有变体,正在彻底改变病毒种群的研究。低频变异的鉴定对于我们了解突变动力学,疾病进展,免疫压力以及检测耐药性或致病性突变非常重要。但是,当前的挑战是要准确地对序列数据中的错误进行建模,并将真正的病毒变体(尤其是那些低频存在的病毒变体)与测序和样品处理过程中引入的错误区分开,这两者都是很重要的。

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