cortex

Reference-free variant assembly

Installation

git clone --recursive https://github.com/iqbal-lab/cortex.git
cd cortex
bash install.sh
make cortex_var

By default, cortex will compile a binary called cortex_var_31_c1. This supports a maximum k-mer size of 31, and up to 1 colour in the graph. To increase these, you need to re-compile cortex as follows:

make cortex_var MAXK=127 NUM_COLS=8

The MAXK can only take values of the form 32 x N - 1, in the range 31 to 255. The NUM_COLS parameter must be a positive integer.

Dependencies

• htslib (bundled)
• seq_file (bundled)
• string_buffer (bundled)
• zlib

Usage

Build a single-colour binary:

cortex_var --se_list <filename> --pe_list <filename> --format FASTQ \
  --quality_score_threshold 5 --remove_pcr_duplicates \
  --remove_low_coverage_supernodes 1 --dump_binary some_name.ctx

Build a multicolour graph from single-colour graphs and call variants between colours 1 and 2:

cortex_var --colour_list <filename> --detect_bubbles1 1/2 \
  --output_bubbles1 vars_between_cols1_and_2

Load a multicolour graph from single-colour graphs and call heterozygous variants in colour 0:

cortex_var --colour_list <filename> --detect_bubbles1 0/0 \
  --output_bubbles1 hets_in_colour_0

Licence

GPLv3

Feedback

File questions or issues to the Issue Tracker

Citation

Zamin Iqbal, Mario Caccamo, Isaac Turner, Paul Flicek, Gil McVean. De novo assembly and genotyping of variants using colored de Bruijn graphs Nature Genetics 44, pages226–232(2012) (link)

For future reference

We are currently working on a new variant calling package which wraps cortex and samtools, which can be found here (link). We have been building singularity containers of these, and these should shortly be hosted externally and easily available