Reference-free variant assembly
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.
htslib(bundled)seq_file(bundled)string_buffer(bundled)zlib
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
File questions or issues to the Issue Tracker
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)
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