使用FunSeq2进行编码和非编码变体标注和优先级排序

Q1 Biochemistry, Genetics and Molecular Biology

Current protocols in bioinformatics Pub Date : 2017-05-02 DOI:10.1002/cpbi.23

Priyanka Dhingra, Yao Fu, Mark Gerstein, Ekta Khurana

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引用次数: 6

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Using FunSeq2 for Coding and Non-Coding Variant Annotation and Prioritization

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. © 2017 by John Wiley & Sons, Inc.

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Current protocols in bioinformatics Biochemistry, Genetics and Molecular Biology-Biochemistry

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期刊介绍： With Current Protocols in Bioinformatics, it"s easier than ever for the life scientist to become "fluent" in bioinformatics and master the exciting new frontiers opened up by DNA sequencing. Updated every three months in all formats, CPBI is constantly evolving to keep pace with the very latest discoveries and developments.