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umahsn authored Nov 4, 2020
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Expand Up @@ -27,17 +27,17 @@ The installation should take about 10 minutes, including the installation of Min

## Usage
```
python PATH_TO_NANOCALLER_REPOSITORY/scripts/NanoCaller.py [-h]
-bam BAM -ref REF -prefix PREFIX
python PATH_TO_NANOCALLER_REPOSITORY/scripts/NanoCaller.py [-h]
-bam BAM -ref REF -prefix PREFIX
[-mode MODE] [-seq SEQUENCING] [-model MODEL]
[-vcf VCF] [-chrom CHROM] [-cpu CPU]
[-min_allele_freq MIN_ALLELE_FREQ]
[-min_nbr_sites MIN_NBR_SITES] [-sample SAMPLE]
[-sup] [-mincov MINCOV] [-maxcov MAXCOV]
[-start START] [-end END]
[-nbr_t NEIGHBOR_THRESHOLD] [-ins_t INS_THRESHOLD]
[-del_t DEL_THRESHOLD] [-disable_whatshap]
[-wgs_print_commands]
[-min_nbr_sites MIN_NBR_SITES] [-include_bed INCLUDE_BED]
[-exclude_bed EXCLUDE_BED] [-sample SAMPLE] [-sup]
[-mincov MINCOV] [-maxcov MAXCOV] [-start START]
[-end END] [-nbr_t NEIGHBOR_THRESHOLD]
[-ins_t INS_THRESHOLD] [-del_t DEL_THRESHOLD]
[-enable_whatshap] [-wgs_print_commands]
[-wgs_contigs_type WGS_CONTIGS_TYPE]
Required arguments:
Expand All @@ -50,7 +50,9 @@ Required arguments:
optional arguments:
-h, --help show this help message and exit
-mode MODE, --mode MODE
Testing mode, options are 'snps', 'indels' and 'both'
Testing mode, options are 'snps', 'snps_unphased',
'indels' and 'both'. 'snps_unphased' mode quits
NanoCaller without using WhatsHap for phasing.
(default: both)
-seq SEQUENCING, --sequencing SEQUENCING
Sequencing type, options are 'ont' and 'pacbio'
Expand All @@ -70,6 +72,24 @@ optional arguments:
minimum alternative allele frequency (default: 0.15)
-min_nbr_sites MIN_NBR_SITES, --min_nbr_sites MIN_NBR_SITES
minimum number of nbr sites (default: 1)
-include_bed INCLUDE_BED, --include_bed INCLUDE_BED
Only call variants inside the intervals specified in
the bgzipped and tabix indexed BED file. If any other
flags are used to specify a region, intersect the
region with intervals in the BED file, e.g. if -chom
chr1 -start 10000000 -end 20000000 flags are set, call
variants inside the intervals specified by the BED
file that overlap with chr1:10000000-20000000. Same
goes for the case when whole genome variant calling
flag is set. (default: None)
-exclude_bed EXCLUDE_BED, --exclude_bed EXCLUDE_BED
Path to bgzipped and tabix indexed BED file containing
intervals to ignore for variant calling. BED files of
centromere and telomere regions for the following
genomes are included in NanoCaller: hg38, hg19, mm10
and mm39. To use these BED files use one of the
following options: ['hg38', 'hg19', 'mm10', 'mm39'].
(default: None)
-sample SAMPLE, --sample SAMPLE
VCF file sample name (default: SAMPLE)
-sup, --supplementary
Expand All @@ -90,9 +110,16 @@ optional arguments:
Insertion Threshold (default: 0.4)
-del_t DEL_THRESHOLD, --del_threshold DEL_THRESHOLD
Deletion Threshold (default: 0.6)
-disable_whatshap, --disable_whatshap
-enable_whatshap, --enable_whatshap
Allow WhatsHap to change SNP genotypes when phasing
(default: False)
using --distrust-genotypes and --include-homozygous
flags (this is not the same as regenotyping),
considerably increasing the time needed for phasing.
It has a negligible effect on SNP calling accuracy for
Nanopore reads, but may make a small improvement for
PacBio reads. By default WhatsHap will only phase SNP
calls produced by NanoCaller, but not change their
genotypes. (default: False)
-wgs_print_commands, --wgs_print_commands
If set, print the commands to run NanoCaller on all
contigs in a file named "wg_commands". By default, run
Expand All @@ -108,10 +135,6 @@ optional arguments:
names without "chr". "all" option will run NanoCaller
on each contig present in reference genome FASTA file.
(default: with_chr)
```
## Example
An example of NanoCaller usage is provided in [sample](sample). The results are stored in [test output](sample/test_run) and were created using the following command:
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