.TH SNP_STORE 1 "" "snp_store 1.3.8 [tarball]" "" .SH NAME snp_store \- SnpStore .SH SYNOPSIS \fBsnp_store\fP [\fIOPTIONS\fP] <\fIGENOME FILE\fP> <\fIALIGNMENT FILE\fP> [<\fIALIGNMENT FILE\fP> ...] .SH DESCRIPTION SNP and Indel Calling in Mapped Read Data. .SH REQUIRED ARGUMENTS .TP \fBGENOME\fP \fIINPUT_FILE\fP A reference genome file. Valid filetypes are: \fI.fasta\fP and \fI.fa\fP. .TP \fBALIGNMENTS\fP List of \fIINPUT_FILE\fP's Read alignment file(s) sorted by genomic position. Valid filetypes are: \fI.sam[.*]\fP, \fI.gff\fP, and \fI.bam\fP, where * is any of the following extensions: \fIgz\fP, \fIbz2\fP, and \fIbgzf\fP for transparent (de)compression. .SH OPTIONS .TP \fB-h\fP, \fB--help\fP Display the help message. .TP \fB--version\fP Display version information. .SS Main Options: .TP \fB-o\fP, \fB--output\fP \fIOUTPUT_FILE\fP SNP output file (mandatory). Valid filetype is: \fI.vcf\fP. .TP \fB-osc\fP, \fB--only-successful-candidates\fP Output only successfully called SNP candidates. Default: Output all candidates. .TP \fB-dc\fP, \fB--dont-clip\fP Ignore clip tags in gff. Default: off. .TP \fB-mu\fP, \fB--multi\fP Keep non-unique fragmentStore.alignedReadStore. Default: off. .TP \fB-hq\fP, \fB--hide-qualities\fP Only show coverage (no qualities) in SNP output file. Default: off. .TP \fB-sqo\fP, \fB--solexa-qual-offset\fP Base qualities are encoded as char value - 64 (instead of char - 33). .TP \fB-id\fP, \fB--indel-file\fP \fIOUTPUT_FILE\fP Output file for called indels in gff format. Default: off. Valid filetype is: \fI.gff\fP. .TP \fB-m\fP, \fB--method\fP \fISTRING\fP Set method used for SNP calling either threshold based or Maq method. One of \fIthresh\fP and \fImaq\fP. Default: \fImaq\fP. .TP \fB-mp\fP, \fB--max-pile\fP \fIINTEGER\fP Maximal number of matches allowed to pile up at the same genome position. In range [1..inf]. Default: \fI1\fP. .TP \fB-mmp\fP, \fB--merged-max-pile\fP Do pile up correction on merged lanes. Default: off. .TP \fB-mc\fP, \fB--min-coverage\fP \fIINTEGER\fP Minimal required number of reads covering a candidate position. In range [1..inf]. Default: \fI5\fP. .TP \fB-fc\fP, \fB--force-call\fP \fIINTEGER\fP Always call base if count is >= fc, ignore other parameters. Default: off. In range [1..inf]. Default: \fI10\fP. .TP \fB-oa\fP, \fB--orientation-aware\fP Distinguish between forward and reverse reads. Default: off. .TP \fB-mpr\fP, \fB--max-polymer-run\fP \fIINTEGER\fP Discard indels in homopolymer runs longer than mpr. In range [0..inf]. Default: \fI100\fP. .TP \fB-dp\fP, \fB--diff-pos\fP \fIINTEGER\fP Minimal number of different read positions supporting the mutation. In range [0..inf]. Default: \fI0\fP. .TP \fB-eb\fP, \fB--exclude-border\fP \fIINTEGER\fP Exclude read positions within eb base pairs of read borders for SNV calling. Default: off. In range [0..inf]. Default: \fI0\fP. .TP \fB-su\fP, \fB--suboptimal\fP Keep suboptimal reads. Default: off .TP \fB-re\fP, \fB--realign\fP Realign reads around indel candidates. Default: off .TP \fB-pws\fP, \fB--parse-window-size\fP \fIINTEGER\fP Genomic window size for parsing reads (concerns memory consumption, choose smaller windows for higher coverage). In range [1..inf]. Default: \fI1000000\fP. .SS Threshold method related: .TP \fB-mm\fP, \fB--min-mutations\fP \fIINTEGER\fP Minimal number of observed mutations for mutation to be called. In range [1..inf]. Default: \fI3\fP. .TP \fB-pt\fP, \fB--perc-threshold\fP \fIDOUBLE\fP Minimal percentage of mutational base for mutation to be called. In range [0..inf]. Default: \fI0.25\fP. .TP \fB-mq\fP, \fB--min-quality\fP \fIDOUBLE\fP Minimal average quality of mutational base for mutation to be called. In range [0..inf]. Default: \fI10\fP. .SS Maq method related: .TP \fB-th\fP, \fB--theta\fP \fIDOUBLE\fP Dependency coefficient. In range [0..inf]. Default: \fI0.85\fP. .TP \fB-hr\fP, \fB--hetero-rate\fP \fIDOUBLE\fP Heterozygote rate. In range [0..1]. Default: \fI0.001\fP. .TP \fB-mmq\fP, \fB--min-map-quality\fP \fIINTEGER\fP Minimum base call (mapping) quality for a match to be considered. In range [0..inf]. Default: \fI1\fP. .TP \fB-ch\fP, \fB--corrected-het\fP Use amplification bias corrected distribution for heterozygotes. Default: off. .TP \fB-maf\fP, \fB--mean-alleleFreq\fP \fIDOUBLE\fP Mean ref allele frequency in heterozygotes. In range [0..inf]. Default: \fI0.51\fP. .TP \fB-ac\fP, \fB--amp-cycles\fP \fIINTEGER\fP Number of amplification cycles. In range [0..inf]. Default: \fI18\fP. .TP \fB-ae\fP, \fB--amp-efficiency\fP \fIDOUBLE\fP Polymerase efficiency, probability of amplification. In range [0..1]. Default: \fI0.3\fP. .TP \fB-in\fP, \fB--initial-N\fP \fIINTEGER\fP Initial allele population size. In range [0..inf]. Default: \fI10\fP. .TP \fB-mec\fP, \fB--min-explained-column\fP \fIDOUBLE\fP Minimum fraction of alignment column reads explained by genotype call. In range [0..1]. Default: \fI0.8\fP. .SS Indel calling options: .TP \fB-it\fP, \fB--indel-threshold\fP \fIINTEGER\fP Minimal number of indel-supporting reads required for indel calling. In range [1..inf]. Default: \fI3\fP. .TP \fB-ipt\fP, \fB--indel-perc-threshold\fP \fIDOUBLE\fP Minimal ratio of indel-supporting/covering reads for indel to be called. In range [0..1]. Default: \fI0.25\fP. .TP \fB-iqt\fP, \fB--indel-quality-thresh\fP \fIINTEGER\fP Minimal average quality of inserted base/deletion-neighboring bases for indel to be called. In range [0..inf]. Default: \fI1\fP. .TP \fB-bsi\fP, \fB--both-strands-indel\fP Both strands need to be observed for indel to be called. Default: off. .TP \fB-ebi\fP, \fB--exclude-border-indel\fP \fIINTEGER\fP Same as option -eb but for indel candidates. In range [0..inf]. Default: \fI0\fP. .SS Other options: .TP \fB-lf\fP, \fB--log-file\fP \fISTRING\fP Write log to FILE. .TP \fB-v\fP, \fB--verbose\fP Enable verbose output. .TP \fB-vv\fP, \fB--very-verbose\fP Enable very verbose output. .TP \fB-q\fP, \fB--quiet\fP Set verbosity to a minimum. .SH EXAMPLES .TP \fBsnp_store\fP \fB-mc\fP \fB2\fP \fB-it\fP \fB2\fP \fBexampleGenome.fa\fP \fBexampleReads.gff\fP \fB-o\fP \fBexampleSNPs.vcf\fP \fB-id\fP \fBexampleIndels.gff\fP Call SNPs and indels of a low-coverage example (minimum coverage and indel threshold were reduced to 2). .TP \fBsnp_store\fP \fB-re\fP \fB-mc\fP \fB2\fP \fB-it\fP \fB2\fP \fBexampleGenome.fa\fP \fBexampleReads.gff\fP \fB-o\fP \fBexampleSNPs.vcf\fP \fB-id\fP \fBexampleIndels.gff\fP Computes a realignment before variant calling. Now, the two 1bp insertions should have been merged into one 2bp insertion.