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Assemblytics is a bioinformatics tool to detect and analyze structural variants from a genome assembly by comparing it to a reference genome.
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README.md

README.md

Assemblytics: a web analytics tool for the detection of variants from an assembly

Assemblytics is available online at http://assemblytics.com

Please cite our paper in Bioinformatics: http://www.ncbi.nlm.nih.gov/pubmed/27318204

The preprint is still freely available on the BioRxiv: https://www.biorxiv.org/content/10.1101/044925v1

There are three ways to use Assemblytics:

  1. Use the hosted online version at http://assemblytics.com. This is the easiest option.
  2. Run it from the command-line. For this you need only the contents of the scripts/ directory. See instructions below.
  3. Run the full web app from a local server. See instructions below.

Important: Use only contigs rather than scaffolds from the assembly. This will prevent false positives when the number of Ns in the scaffolded sequence does not match perfectly to the distance in the reference.

Dependencies

  • R
    • ggplot2
    • plyr
    • RColorBrewer
    • scales
  • Python
    • argparse
    • numpy

Command-line instructions

If you prefer to run Assemblytics from the command-line the scripts/ directory contains all the code you need, from unique anchor filtering and calling variants to creating the output plots and summary tables.

To run Assemblytics on the command-line, keep all the scripts together inside the scripts/ directory, either in your PATH or anywhere else you like, and make them all executable:

chmod a+x scripts/Assemblytics*

Keeping the scripts together in the same folder will allow the main Assemblytics script to call all the other scripts that do filtering, analysis, indexing, and plotting.

Follow the instructions at http://assemblytics.com for how to prepare your data and get a delta file for Assemblytics.

Then run Assemblytics:

scripts/Assemblytics <delta_file> <output_prefix> <unique_anchor_length> <min_variant_size> <max_variant_size>

Local web app instructions

The whole web application can be downloaded and run locally, utilizing the graphical user interface and giving the added benefit of the interactive dot plot which is only available in the web version and cannot run from the CLI.

Notes for installation:

  • Use a local server like Apache and follow the instructions there.
  • Clone this repository into a folder called assemblytics, to make the .htaccess file point the server correctly to the public/ folder, where the index.php and other pages and web app resources are located.
  • Make sure to open up permissions in user_uploads and user_data so the webserver can read and write there.
  • It does not contain the examples as some of these are huge files.
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