NGS数据去重/压缩

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由于NGS上游实验过程中，会进行PCR（该过程会引入Duplication），因此在下游对duplication的处理非常重要，可能会影响整体的检测结果。早期的MarkDup，存在主流的GATK、Picard等软件，但是随着临床低频检测的需求出现，UMI技术逐步成为低频检测的主流。而在UMI的应用下，Duplication这部分信息的利用进入了大家的视野。但是目前进行数据压缩的软件还未形成业内的公识，所以调研汇总一些。

参考文献

[1]. UMIErrorCorrect and UMIAnalyzer: Software for Consensus Read Generation, Error Correction,and Visualization Using Unique Molecular Identifiers # 全文下载

[2]. UMIc: A Preprocessing Method for UMI Deduplication and Reads Correction # 全文下载

[3]. UMI-linked consensus sequencing enables phylogenetic analysis of directed evolution # 全文下载

[4]. Gencore: an efficient tool to generate consensus reads for error suppressing and duplicate removing of NGS data # 全文下载

[5]. UMI-Gen: A UMI-based read simulator for variant calling evaluation in paired-end sequencing NGS libraries # 全文下载

[6]. UMI-tools: modeling sequencing errors in Unique Molecular Identifiers to improve quantification accuracy # 全文下载

[7]. Alignment-free clustering of UMI tagged DNA molecules # 全文下载

[8]. UMI-VarCal: a new UMI-based variant caller that efficiently improves low-frequency variant detection in paired-end sequencing NGS libraries # 全文下载

[9]. High efficiency error suppression for accurate detection of low-frequency variants # 全文下载

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