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使用 transIndel 检测中型和大型插入和缺失

Detecting Medium and Large Insertions and Deletions with transIndel.

机构信息

The Hormel Institute, University of Minnesota, Austin, MN, USA.

出版信息

Methods Mol Biol. 2022;2493:67-75. doi: 10.1007/978-1-0716-2293-3_5.

DOI:10.1007/978-1-0716-2293-3_5
PMID:35751809
Abstract

Insertions and deletions (indels) are primarily detected from DNA sequencing (DNA-seq) data, but their transcriptional consequences remain unexplored due to challenges in distinguishing medium- and large-sized indels from RNA splicing events in RNA-seq data. We introduce transIndel, a splice-aware algorithm that parses the chimeric alignments predicted by a short read aligner and reconstructs the mid-sized insertions and large deletions based on the linear alignments of split reads from DNA-seq or RNA-seq data. Here, we describe the method and provide a tutorial on the installation and application of transIndel.

摘要

插入和缺失(indels)主要是从 DNA 测序(DNA-seq)数据中检测到的,但由于在 RNA-seq 数据中区分中等大小和大的 indels 与 RNA 剪接事件的挑战,它们的转录后果仍未被探索。我们引入了 transIndel,这是一种拼接感知算法,它解析由短读对齐器预测的嵌合比对,并根据来自 DNA-seq 或 RNA-seq 数据的拆分读取的线性比对来重建中型插入和大缺失。在这里,我们描述了该方法,并提供了关于 transIndel 的安装和应用的教程。

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Detecting Medium and Large Insertions and Deletions with transIndel.使用 transIndel 检测中型和大型插入和缺失
Methods Mol Biol. 2022;2493:67-75. doi: 10.1007/978-1-0716-2293-3_5.
2
Indel detection from DNA and RNA sequencing data with transIndel.使用 transIndel 从 DNA 和 RNA 测序数据中检测插入缺失
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