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SIQ:测序数据中突变谱的简易定量测量。

SIQ: easy quantitative measurement of mutation profiles in sequencing data.

作者信息

van Schendel Robin, Schimmel Joost, Tijsterman Marcel

机构信息

Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.

Institute of Biology Leiden, Leiden University, Leiden, The Netherlands.

出版信息

NAR Genom Bioinform. 2022 Sep 5;4(3):lqac063. doi: 10.1093/nargab/lqac063. eCollection 2022 Sep.


DOI:10.1093/nargab/lqac063
PMID:36071722
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9442499/
Abstract

With the emergence of CRISPR-mediated genome editing, there is an increasing desire for easy-to-use tools that can process and overview the spectra of outcomes. Here, we present Sequence Interrogation and Quantification (SIQ), a simple-to-use software tool that enables researchers to retrieve, data-mine and visualize complex sets of targeted sequencing data. SIQ can analyse Sanger sequences but specifically benefit the processing of short- and long-read next-generation sequencing data (e.g. Illumina and PacBio). SIQ facilitates their interpretation by establishing mutational profiles, with a focus on event classification such as deletions, single-nucleotide variations, (templated) insertions and tandem duplications. SIQ results can be directly analysed and visualized via SIQPlotteR, an interactive web tool that we made freely available. Using insightful tornado plot visualizations as outputs, we illustrate that SIQ readily identifies sequence- and repair pathway-specific mutational signatures in a variety of model systems, such as nematodes, plants and mammalian cell culture.

摘要

随着CRISPR介导的基因组编辑技术的出现,人们对能够处理和概述结果谱的易用工具的需求日益增加。在此,我们展示了序列询问与定量(SIQ),这是一种易于使用的软件工具,使研究人员能够检索、挖掘数据并可视化复杂的靶向测序数据集。SIQ可以分析桑格测序数据,但特别有利于处理短读长和长读长的下一代测序数据(如Illumina和PacBio)。SIQ通过建立突变谱促进对这些数据的解读,重点关注事件分类,如缺失、单核苷酸变异、(模板化)插入和串联重复。SIQ结果可以通过SIQPlotteR直接进行分析和可视化,SIQPlotteR是我们免费提供的一个交互式网络工具。通过使用有洞察力的龙卷风图可视化作为输出,我们表明SIQ能够在多种模型系统中轻松识别序列和修复途径特异性的突变特征,如线虫、植物和哺乳动物细胞培养。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1628/9442499/9e2470751af3/lqac063fig3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1628/9442499/63edd8e1a72b/lqac063fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1628/9442499/1de900b677b0/lqac063fig2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1628/9442499/9e2470751af3/lqac063fig3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1628/9442499/63edd8e1a72b/lqac063fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1628/9442499/1de900b677b0/lqac063fig2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1628/9442499/9e2470751af3/lqac063fig3.jpg

相似文献

[1]
SIQ: easy quantitative measurement of mutation profiles in sequencing data.

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[2]
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[3]
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[4]
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[5]
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[6]
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[7]
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[8]
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[9]
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[10]
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引用本文的文献

[1]
Off-target effects in CRISPR-Cas genome editing for human therapeutics: Progress and challenges.

Mol Ther Nucleic Acids. 2025-7-17

[2]
X-CRISP: domain-adaptable and interpretable CRISPR repair outcome prediction.

Bioinform Adv. 2025-7-2

[3]
Allele-Selective Genome Editing of the Human Leukocyte Antigen Locus in Human Dental Pulp Cells Using Zinc Finger Nucleases.

Cureus. 2025-5-27

[4]
Division of labor within polymerase theta in repair of CRISPR-induced DNA breaks in .

PNAS Nexus. 2025-6-3

[5]
Comparative analysis of multiple DNA double-strand break repair pathways in CRISPR-mediated endogenous tagging.

Commun Biol. 2025-5-13

[6]
FAN1-mediated translesion synthesis and POLQ/HELQ-mediated end joining generate interstrand crosslink-induced mutations.

Nat Commun. 2025-3-13

[7]
X-CRISP: Domain-Adaptable and Interpretable CRISPR Repair Outcome Prediction.

bioRxiv. 2025-4-23

[8]
Utilizing insights of DNA repair machinery to discover MMEJ deletions and novel mechanisms.

Nucleic Acids Res. 2024-12-11

[9]
The interplay of DNA repair context with target sequence predictably biases Cas9-generated mutations.

Nat Commun. 2024-11-27

[10]
Genetic dissection of mutagenic repair and T-DNA capture at CRISPR-induced DNA breaks in .

PNAS Nexus. 2024-2-26

本文引用的文献

[1]
Inference of CRISPR Edits from Sanger Trace Data.

CRISPR J. 2022-2

[2]
CRISPR-Cas9 induces large structural variants at on-target and off-target sites in vivo that segregate across generations.

Nat Commun. 2022-2-2

[3]
Enhanced prime editing systems by manipulating cellular determinants of editing outcomes.

Cell. 2021-10-28

[4]
Small tandem DNA duplications result from CST-guided Pol α-primase action at DNA break termini.

Nat Commun. 2021-8-10

[5]
Preservation of lagging strand integrity at sites of stalled replication by Pol α-primase and 9-1-1 complex.

Sci Adv. 2021-5-19

[6]
CRISPAltRations: a validated cloud-based approach for interrogation of double-strand break repair mediated by CRISPR genome editing.

Mol Ther Methods Clin Dev. 2021-4-2

[7]
Marker-free quantification of repair pathway utilization at Cas9-induced double-strand breaks.

Nucleic Acids Res. 2021-5-21

[8]
Deconvolution of Complex DNA Repair (DECODR): Establishing a Novel Deconvolution Algorithm for Comprehensive Analysis of CRISPR-Edited Sanger Sequencing Data.

CRISPR J. 2021-2

[9]
Templated Insertions: A Smoking Gun for Polymerase Theta-Mediated End Joining.

Trends Genet. 2019-7-8

[10]
Accurate analysis of genuine CRISPR editing events with ampliCan.

Genome Res. 2019-3-8

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