The Ensembl Variant Effect Predictor

doi:10.1186/s13059-016-0974-4

2016-06-06

4.8K

DOI：10.1186/s13059-016-0974-4

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摘要

En 中文

The Ensembl Variant Effect Predictor is a powerful toolset for the analysis, annotation, and prioritization of genomic variants in coding and non-coding regions. It provides access to an extensive collection of genomic annotation, with a variety of interfaces to suit different requirements, and simple options for configuring and extending analysis. It is open source, free to use, and supports full reproducibility of results. The Ensembl Variant Effect Predictor can simplify and accelerate variant interpretation in a wide range of study designs.

Keyword:

Variant annotation

NGS

Genome

SNP

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期刊

Genome Biology

IF:

9.4

论文数:

6.4K

被引数:

7.3W

机构

european molecular biology laboratory (embl)

学者数:

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被引数: 31

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