There is a Jupyter Notebook in the folder /src/ where you can interact with the scripts without the use of a console.
This modified script contains 2 scripts -- rank_mod.py and build.py -- as well as a helper script vcf_to_1ksnp.py for generating input files in the proper format.
FORGe takes information about genetic variants in a 1ksnp and an optional phasing file. The 1ksnp format is less complex than VCF, but you can convert VCF to using the included vcf_to_1ksnp.py.
In a 1ksnp file, each alternate allele is stored as a separate line with the following columns:
Chromosome Position Reference Allele Alternate Allele Population Frequency ?? # Alternates Variant Name
The phasing file is a comma-separated table with a column for each individual and row for each variant, in the same order they appear in the 1ksnp file. An element contains the allele for the corresponding individual (column) and variant (row), with 0 indicating the reference allele and k indicating the kth alternate allele, in order, appearing in the 1ksnp file.
FORGe includes a helper script vcf_to_1ksnp.py to facilitate convertsion from a VCF file and set of ingroup individuals to FORGe variant and phasing files. Ingroup individuals can be specified as a list of names to either include (--ingroup) or exclude (--outgroup).
Example usage:
./vcf_to_1ksnp.py --reference ref.fa --vcf variants.vcf --ingroup names.txt --out variants.1ksnp --individuals phasing.txt
rank_mod.py takes a linear reference genome fasta, a 1ksnp variant file and an optional file containing phasing information. The user also specifies a model using --method (options are: popcov or popcov-blowup) and a window size using --window-size.
The user can indicate a specific chromosome to process using --chrom. This modified script does not include the hybrid ranking since the packages used in this algorithm are deprecated.
Example usage:
./rank_mod.py --method popcov --reference ref.fa --vars variants.1ksnp --window-size 100 --phasing phasing.txt --output ordered.txt
build.py takes as input a set of ranked variants (output by rank.py) and a percentage of variants to include in the graph. It produces the necessary input files to build an index with HISAT2 or with Bowtie (ERG).
Example usage:
./build.py --reference ref.fa --vars variants.1ksnp --window-size 100 --hisat variants.snp --sorted ordered.txt --pct 10
From beginning to end, running the FORGe pipeline with HISAT2 might look like this:
./vcf_to_1ksnp.py --reference ref.fa --vcf variants.vcf --ingroup names.txt --out variants.1ksnp --individuals phasing.txt
./rank_mod.py --method popcov --reference ref.fa --vars variants.1ksnp --window-size 100 --phasing phasing.txt --output ordered.txt
./build.py --reference ref.fa --vars variants.1ksnp --window-size 100 --hisat variants.snp --sorted ordered.txt --pct 10
$HISAT_HOME/hisat2-build --snp variants.snp ref.fa index