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TREAT:一个用于靶向和外显子组测序数据中变异注释和可视化的生物信息学工具。

TREAT: a bioinformatics tool for variant annotations and visualizations in targeted and exome sequencing data.

机构信息

Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, Mayo College of Medicine, Rochester, MN, USA.

出版信息

Bioinformatics. 2012 Jan 15;28(2):277-8. doi: 10.1093/bioinformatics/btr612. Epub 2011 Nov 15.

Abstract

UNLABELLED

TREAT (Targeted RE-sequencing Annotation Tool) is a tool for facile navigation and mining of the variants from both targeted resequencing and whole exome sequencing. It provides a rich integration of publicly available as well as in-house developed annotations and visualizations for variants, variant-hosting genes and host-gene pathways.

AVAILABILITY AND IMPLEMENTATION

TREAT is freely available to non-commercial users as either a stand-alone annotation and visualization tool, or as a comprehensive workflow integrating sequencing alignment and variant calling. The executables, instructions and the Amazon Cloud Images of TREAT can be downloaded at the website: http://ndc.mayo.edu/mayo/research/biostat/stand-alone-packages.cfm.

摘要

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TREAT(靶向重测序注释工具)是一种用于方便导航和挖掘靶向重测序和全外显子组测序中变体的工具。它为变体、变体宿主基因和宿主基因途径提供了丰富的公共可用注释和可视化集成,以及内部开发的注释和可视化集成。

可用性和实现

TREAT 可作为独立的注释和可视化工具,或作为一个综合工作流程,将测序比对和变异调用集成在一起,免费提供给非商业用户使用。TREAT 的可执行文件、说明和亚马逊云映像可以在以下网站下载:http://ndc.mayo.edu/mayo/research/biostat/stand-alone-packages.cfm。

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本文引用的文献

1
Integrative genomics viewer.
Nat Biotechnol. 2011 Jan;29(1):24-6. doi: 10.1038/nbt.1754.
2
Frequent mutation of BAP1 in metastasizing uveal melanomas.
Science. 2010 Dec 3;330(6009):1410-3. doi: 10.1126/science.1194472. Epub 2010 Nov 4.
3
Molecular diagnosis of neonatal diabetes mellitus using next-generation sequencing of the whole exome.
PLoS One. 2010 Oct 26;5(10):e13630. doi: 10.1371/journal.pone.0013630.
4
GAMES identifies and annotates mutations in next-generation sequencing projects.
Bioinformatics. 2011 Jan 1;27(1):9-13. doi: 10.1093/bioinformatics/btq603. Epub 2010 Oct 22.
5
SeqAnt: a web service to rapidly identify and annotate DNA sequence variations.
BMC Bioinformatics. 2010 Sep 20;11:471. doi: 10.1186/1471-2105-11-471.
6
Next generation tools for genomic data generation, distribution, and visualization.
BMC Bioinformatics. 2010 Sep 9;11:455. doi: 10.1186/1471-2105-11-455.
7
Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome.
Am J Hum Genet. 2010 Sep 10;87(3):418-23. doi: 10.1016/j.ajhg.2010.08.004.
8
The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data.
Genome Res. 2010 Sep;20(9):1297-303. doi: 10.1101/gr.107524.110. Epub 2010 Jul 19.
9
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data.
Nucleic Acids Res. 2010 Sep;38(16):e164. doi: 10.1093/nar/gkq603. Epub 2010 Jul 3.
10
Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy.
N Engl J Med. 2010 Apr 1;362(13):1181-91. doi: 10.1056/NEJMoa0908094. Epub 2010 Mar 10.

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