Using FunSeq for Coding and Non-Coding Variant Annotation and Prioritization

Priyanka Dhingra; Yao Fu; Mark GersteinEkta Khurana

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Using FunSeq for Coding and Non-Coding Variant Annotation and Prioritization

机译：Using FunSeq for Coding and Non-Coding Variant Annotation and Prioritization

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摘要

The identification of non-coding drivers remains a challenge and bottleneck for the use of whole-genome sequencing in the clinic. FunSeq2 is a computational tool for annotation and prioritization of somatic mutations in coding and non-coding regions.It integrates a data context made from large-scale genomic datasets and uses a high-throughput variant prioritization pipeline. This unit provides guidelines for installing and running FunSeq2 to (a) annotate and prioritize variants, (b) incorporate user-defined annotations, and (c) detect differential gene expression.

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来源
《Current Protocols in Bioinformatics》 |2017年第57期|15.11/1-15.11/17|共17页
作者
Priyanka Dhingra; Yao Fu; Mark GersteinEkta Khurana;
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作者单位

Institute for Computational Biomedicine, Weill Cornell Medical College, New York, New York;

Program in Computational Biology and Bioinformatics, Yale University, New Haven, Connecticut;

Bina Technologies, Roche Sequencing, Redwood City, California;

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原文格式 PDF
正文语种英语
中图分类遗传学;
关键词
disease-causing; differential gene expression; cancer drivers; indels; non-coding variants; single nucleotide variants;

Using FunSeq for Coding and Non-Coding Variant Annotation and Prioritization

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