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# Spliceogen | ||
Spliceogen is an integrative, scalable tool for the discovery of splice-altering variants. Variants are assessed for their potential to create or disrupt any of the cis motifs which guide splice site definition: donors, acceptors, branchpoints, enhancers and silencers. Spliceogen integrates predictions from MaxEntScan<sup>1</sup>, GeneSplicer<sup>2</sup>, ESRseq<sup>3</sup> and Branchpointer<sup>4</sup>. Spliceogen accepts standard VCF/BED inputs and handles both SNVs and indels. [Databases](#Database) of genome-wide predictions are also available. | ||
Spliceogen is an integrative, scalable tool for the discovery of splice-altering variants. Variants are assessed for their potential to create or disrupt any of the cis motifs which guide splice site definition: donors, acceptors, branchpoints, enhancers and silencers. Spliceogen integrates predictions from MaxEntScan<sup>1</sup>, GeneSplicer<sup>2</sup>, ESRseq<sup>3</sup> and Branchpointer<sup>4</sup>. Spliceogen accepts standard VCF/BED inputs and handles both SNVs and indels. [Databases](##Database) of genome-wide predictions are also available. | ||
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Author and maintainer: Steve Monger - [email protected] | ||
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## Getting Started | ||
Instructions for installation and obtaining required files. Ensure dependencies are met, or alternatively, follow our instructions for running Spliceogen from a docker image. | ||
Instructions for installation and obtaining required files. Ensure (dependencies)[###Dependencies] are met, or alternatively, run Spliceogen from the provided (docker)[###Docker] image. | ||
### Installation: | ||
Navigate to your desired installation directory and clone this repository: | ||
``` | ||
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``` | ||
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### Docker: | ||
Alternatively, a docker image is provided with all dependencies installed. With docker installed, the basic command is: | ||
A docker image is provided with all Spliceogen and Branchpointer dependencies installed. With docker installed, the basic command is: | ||
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``` | ||
> docker run -it mictro/spliceogen:latest /bin/bash | ||
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hg19- https://s3-us-west-2.amazonaws.com/spliceogen/databases/hg19_focussed.zip | ||
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hg38- https://s3-us-west-2.amazonaws.com/spliceogen/databases/hg38._focussed.zip | ||
hg38- https://s3-us-west-2.amazonaws.com/spliceogen/databases/hg38_focussed.zip | ||
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The comprehensive version contains all donor, acceptor, silencer and enhancer predictions: | ||
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