# HG changeset patch # User youyuh48 # Date 1566712731 14400 # Node ID ee65e517769dfc5540fb9b58e00a87537de13a4c planemo upload for repository https://github.com/youyuh48/galaxy-tools/tree/master/tools/sniffles diff -r 000000000000 -r ee65e517769d sniffles.xml --- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/sniffles.xml Sun Aug 25 01:58:51 2019 -0400 @@ -0,0 +1,142 @@ + + Structural variation caller using third generation sequencing + + sniffles + + + + + + + + + + +
+ + + + + + +
+
+ + + + + + + + + + + + + + + + -v + +Input/Output: + -m , --mapped_reads + (required) Sorted bam File + -v , --vcf + VCF output file name [] + -b , --bedpe + bedpe output file name [] + \--Ivcf + Input VCF file name. Enable force calling [] + \--tmp_file + path to temporary file otherwise Sniffles will use the current directory. [] + +General: + -s , --min_support + Minimum number of reads that support a SV. [10] + \--max_num_splits + Maximum number of splits per read to be still taken into account. [7] + -d , --max_distance + Maximum distance to group SV together. [1000] + -t , --threads + Number of threads to use. [3] + -l , --min_length + Minimum length of SV to be reported. [30] + -q , --minmapping_qual + Minimum Mapping Quality. [20] + -n , --num_reads_report + Report up to N reads that support the SV in the vcf file. -1: report all. [0] + -r , --min_seq_size + Discard read if non of its segment is larger then this. [2000] + -z , --min_zmw + Discard SV that are not supported by at least x zmws. This applies only for PacBio recognizable reads. [0] + \--cs_string + Enables the scan of CS string instead of Cigar and MD. [false] + +Clustering/phasing and genotyping: + \--genotype + Enables Sniffles to compute the genotypes. [false] + \--cluster + Enables Sniffles to phase SVs that occur on the same reads [false] + \--cluster_support + Minimum number of reads supporting clustering of SV. [1] + -f , --allelefreq + Threshold on allele frequency (0-1). [0] + \--min_homo_af + Threshold on allele frequency (0-1). [0.8] + \--min_het_af + Threshold on allele frequency (0-1). [0.3] + +Advanced: + \--report_BND + Dont report BND instead use Tra in vcf output. [true] + \--report_seq + Report sequences for indels in vcf output. (Beta version!) [false] + \--ignore_sd + Ignores the sd based filtering. [false] + \--report_read_strands + Enables the report of the strand categories per read. (Beta) [false] + \--ccs_reads + Preset CCS Pacbio setting. (Beta) [false] + +Parameter estimation: + \--skip_parameter_estimation + Enables the scan if only very few reads are present. [false] + \--del_ratio + Estimated ration of deletions per read (0-1). [0.0458369] + \--ins_ratio + Estimated ratio of insertions per read (0-1). [0.049379] + \--max_diff_per_window + Maximum differences per 100bp. [50] + \--max_dist_aln_events + Maximum distance between alignment (indel) events. [4] + ]]> + + + 10.1038/s41592-018-0001-7 + +
diff -r 000000000000 -r ee65e517769d test-data/expected_output.vcf --- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/test-data/expected_output.vcf Sun Aug 25 01:58:51 2019 -0400 @@ -0,0 +1,118 @@ +##fileformat=VCFv4.2 +##source=Sniffles +##fileDate=20180307 +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##ALT= +##ALT= +##ALT= +##ALT= +##ALT= +##ALT= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##FORMAT= +##FORMAT= +##FORMAT= +#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT reads_region.bam +21 21492142 0 N . PASS PRECISE;SVMETHOD=Snifflesv1.0.8;CHR2=21;END=21492648;STD_quant_start=0.000000;STD_quant_stop=0.000000;Kurtosis_quant_start=0.572582;Kurtosis_quant_stop=1.417662;SVTYPE=DEL;SUPTYPE=AL,SR;SVLEN=506;STRANDS=+-;RE=48 GT:DR:DV ./.:.:48 diff -r 000000000000 -r ee65e517769d test-data/reads_region.bam Binary file test-data/reads_region.bam has changed