snp_store1
Snpstore
Usage
snp_store [OPTIONS]
<GENOME
FILE>
<ALIGNMENT
FILE>
[<ALIGNMENT
FILE> ...]
Overview
SNP and Indel Calling in Mapped Read Data.
Required arguments
- GENOME INPUT_FILE
-
A reference genome file. Valid filetypes are: .fasta and .fa.
- ALIGNMENTS List of INPUT_FILE's
-
Read alignment file(s) sorted by genomic position. Valid filetypes are: .sam[.*], .gff, and .bam, where * is any of the following extensions: gz, bz2, and bgzf for transparent (de)compression.
Options
-
-h, --help -
Display the help message.
-
--version -
Display version information.
Main Options:
-
-o, --output OUTPUT_FILE -
SNP output file (mandatory). Valid filetype is: .vcf.
-
-osc, --only-successful-candidates -
Output only successfully called SNP candidates. Default: Output all candidates.
-
-dc, --dont-clip -
Ignore clip tags in gff. Default: off.
-
-mu, --multi -
Keep non-unique fragmentStore.alignedReadStore. Default: off.
-
-hq, --hide-qualities -
Only show coverage (no qualities) in SNP output file. Default: off.
-
-sqo, --solexa-qual-offset -
Base qualities are encoded as char value - 64 (instead of char - 33).
-
-id, --indel-file OUTPUT_FILE -
Output file for called indels in gff format. Default: off. Valid filetype is: .gff.
-
-m, --method STRING -
Set method used for SNP calling either threshold based or Maq method. One of thresh and maq. Default: maq.
-
-mp, --max-pile INTEGER -
Maximal number of matches allowed to pile up at the same genome position. In range [1..inf]. Default: 1.
-
-mmp, --merged-max-pile -
Do pile up correction on merged lanes. Default: off.
-
-mc, --min-coverage INTEGER -
Minimal required number of reads covering a candidate position. In range [1..inf]. Default: 5.
-
-fc, --force-call INTEGER -
Always call base if count is >= fc, ignore other parameters. Default: off. In range [1..inf]. Default: 10.
-
-oa, --orientation-aware -
Distinguish between forward and reverse reads. Default: off.
-
-mpr, --max-polymer-run INTEGER -
Discard indels in homopolymer runs longer than mpr. In range [0..inf]. Default: 100.
-
-dp, --diff-pos INTEGER -
Minimal number of different read positions supporting the mutation. In range [0..inf]. Default: 0.
-
-eb, --exclude-border INTEGER -
Exclude read positions within eb base pairs of read borders for SNV calling. Default: off. In range [0..inf]. Default: 0.
-
-su, --suboptimal -
Keep suboptimal reads. Default: off
-
-re, --realign -
Realign reads around indel candidates. Default: off
-
-pws, --parse-window-size INTEGER -
Genomic window size for parsing reads (concerns memory consumption, choose smaller windows for higher coverage). In range [1..inf]. Default: 1000000.
Threshold method related:
-
-mm, --min-mutations INTEGER -
Minimal number of observed mutations for mutation to be called. In range [1..inf]. Default: 3.
-
-pt, --perc-threshold DOUBLE -
Minimal percentage of mutational base for mutation to be called. In range [0..inf]. Default: 0.25.
-
-mq, --min-quality DOUBLE -
Minimal average quality of mutational base for mutation to be called. In range [0..inf]. Default: 10.
Maq method related:
-
-th, --theta DOUBLE -
Dependency coefficient. In range [0..inf]. Default: 0.85.
-
-hr, --hetero-rate DOUBLE -
Heterozygote rate. In range [0..1]. Default: 0.001.
-
-mmq, --min-map-quality INTEGER -
Minimum base call (mapping) quality for a match to be considered. In range [0..inf]. Default: 1.
-
-ch, --corrected-het -
Use amplification bias corrected distribution for heterozygotes. Default: off.
-
-maf, --mean-alleleFreq DOUBLE -
Mean ref allele frequency in heterozygotes. In range [0..inf]. Default: 0.51.
-
-ac, --amp-cycles INTEGER -
Number of amplification cycles. In range [0..inf]. Default: 18.
-
-ae, --amp-efficiency DOUBLE -
Polymerase efficiency, probability of amplification. In range [0..1]. Default: 0.3.
-
-in, --initial-N INTEGER -
Initial allele population size. In range [0..inf]. Default: 10.
-
-mec, --min-explained-column DOUBLE -
Minimum fraction of alignment column reads explained by genotype call. In range [0..1]. Default: 0.8.
Indel calling options:
-
-it, --indel-threshold INTEGER -
Minimal number of indel-supporting reads required for indel calling. In range [1..inf]. Default: 3.
-
-ipt, --indel-perc-threshold DOUBLE -
Minimal ratio of indel-supporting/covering reads for indel to be called. In range [0..1]. Default: 0.25.
-
-iqt, --indel-quality-thresh INTEGER -
Minimal average quality of inserted base/deletion-neighboring bases for indel to be called. In range [0..inf]. Default: 1.
-
-bsi, --both-strands-indel -
Both strands need to be observed for indel to be called. Default: off.
-
-ebi, --exclude-border-indel INTEGER -
Same as option -eb but for indel candidates. In range [0..inf]. Default: 0.
Other options:
-
-lf, --log-file STRING -
Write log to FILE.
-
-v, --verbose -
Enable verbose output.
-
-vv, --very-verbose -
Enable very verbose output.
-
-q, --quiet -
Set verbosity to a minimum.
Examples
snp_store-mc2-it2exampleGenome.faexampleReads.gff-oexampleSNPs.vcf-idexampleIndels.gff-
Call SNPs and indels of a low-coverage example (minimum coverage and indel threshold were reduced to 2).
snp_store-re-mc2-it2exampleGenome.faexampleReads.gff-oexampleSNPs.vcf-idexampleIndels.gff-
Computes a realignment before variant calling. Now, the two 1bp insertions should have been merged into one 2bp insertion.
History
- Debian 13 (Trixie) to Debian 10 (Buster): the text shown here
- Debian 9 (Stretch)
- Debian 8 (Jessie)
--amp-cycles since Debian 10 (Buster);
--amp-efficiency since Debian 10 (Buster);
--both-strands-indel since Debian 10 (Buster);
--corrected-het since Debian 10 (Buster);
--diff-pos since Debian 10 (Buster);
--dont-clip since Debian 10 (Buster);
--exclude-border since Debian 10 (Buster);
--exclude-border-indel since Debian 10 (Buster);
--force-call since Debian 10 (Buster);
--help since Debian 10 (Buster);
--hetero-rate since Debian 10 (Buster);
--hide-qualities since Debian 10 (Buster);
--indel-file since Debian 10 (Buster);
--indel-perc-threshold since Debian 10 (Buster);
--indel-quality-thresh since Debian 10 (Buster);
--indel-threshold since Debian 10 (Buster);
--initial-N since Debian 10 (Buster);
--log-file since Debian 10 (Buster);
--max-pile since Debian 10 (Buster);
--max-polymer-run since Debian 10 (Buster);
--mean-alleleFreq since Debian 10 (Buster);
--merged-max-pile since Debian 10 (Buster);
--method since Debian 10 (Buster);
--min-coverage since Debian 10 (Buster);
--min-explained-column since Debian 10 (Buster);
--min-map-quality since Debian 10 (Buster);
--min-mutations since Debian 10 (Buster);
--min-quality since Debian 10 (Buster);
--multi since Debian 10 (Buster);
--only-successful-candidates since Debian 10 (Buster);
--orientation-aware since Debian 10 (Buster);
--output since Debian 10 (Buster);
--parse-window-size since Debian 10 (Buster);
--perc-threshold since Debian 10 (Buster);
--quiet since Debian 10 (Buster);
--realign since Debian 10 (Buster);
--solexa-qual-offset since Debian 10 (Buster);
--suboptimal since Debian 10 (Buster);
--theta since Debian 10 (Buster);
--verbose since Debian 10 (Buster);
--version since Debian 10 (Buster);
--very-verbose since Debian 10 (Buster);
-ac since Debian 10 (Buster);
-ae since Debian 10 (Buster);
-bsi since Debian 10 (Buster);
-ch since Debian 10 (Buster);
-dc since Debian 10 (Buster);
-dp since Debian 10 (Buster);
-eb since Debian 10 (Buster);
-ebi since Debian 10 (Buster);
-fc since Debian 10 (Buster);
-h since Debian 10 (Buster);
-hq since Debian 10 (Buster);
-hr since Debian 10 (Buster);
-id since Debian 10 (Buster);
-in since Debian 10 (Buster);
-ipt since Debian 10 (Buster);
-iqt since Debian 10 (Buster);
-it since Debian 10 (Buster);
-lf since Debian 10 (Buster);
-m since Debian 10 (Buster);
-maf since Debian 10 (Buster);
-mc since Debian 10 (Buster);
-mec since Debian 10 (Buster);
-mm since Debian 10 (Buster);
-mmp since Debian 10 (Buster);
-mmq since Debian 10 (Buster);
-mp since Debian 10 (Buster);
-mpr since Debian 10 (Buster);
-mq since Debian 10 (Buster);
-mu since Debian 10 (Buster);
-o since Debian 10 (Buster);
-oa since Debian 10 (Buster);
-osc since Debian 10 (Buster);
-pt since Debian 10 (Buster);
-pws since Debian 10 (Buster);
-q since Debian 10 (Buster);
-re since Debian 10 (Buster);
-sqo since Debian 10 (Buster);
-su since Debian 10 (Buster);
-th since Debian 10 (Buster);
-v since Debian 10 (Buster);
-vv since Debian 10 (Buster).