# HG changeset patch # User iuc # Date 1727206203 0 # Node ID 3f6f028f418f4bc6c8ec85c48842304a96b8a026 # Parent 93c4b04a0769cecca3158ee46d289b83ef23ded9 planemo upload for repository https://github.com/galaxyproject/tools-iuc commit d2d7bf4fbdd781458833134cee92c46ff6a4f603 diff -r 93c4b04a0769 -r 3f6f028f418f sniffles.xml --- a/sniffles.xml Mon Sep 14 07:39:07 2020 +0000 +++ b/sniffles.xml Tue Sep 24 19:30:03 2024 +0000 @@ -1,8 +1,11 @@ - + Structural variation caller using third generation sequencing - 1.0.12 + 2.4 + + sniffles + sniffles @@ -13,82 +16,69 @@ + + + + + + + + + + + + + + + + + + + +
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@@ -97,38 +87,27 @@ - - + - + - - - + + - + - - - + + - - - + + - + - - - - - - - - - + + @@ -139,12 +118,15 @@ What is Sniffles? ***************** -Sniffles is a SV caller for long reads. It is mainly designed for PacBio reads, but also works on Oxford Nanopore reads. SV are larger events on the genome (e.g. deletions, duplications, insertions, inversions and translocations). Sniffles can detect all of these type and more such as nested SVs (e.g. inversion flanked by deletions or an inverted duplication). Furthermore, Sniffles incorporates multiple auto tuning functions to determine data set depending parameter to reduce the overall risk of falsely infer SVs. +Sniffles is a SV caller for long reads. Sniffles2 accurately detect SVs on germline, somatic and population-level for PacBio and Oxford Nanopore read data. + +SV are larger events on the genome (e.g. deletions, duplications, insertions, inversions and translocations). +Sniffles can detect all of these type and more such as nested SVs (e.g. inversion flanked by deletions or an inverted duplication). -Quick Start -*********** +Inputs +****** -Make sure you have a sorted bam file either from ngmlr or from bwa. For the later make sure you have used -M parameter for mapping to mark which alignments are primary and which are secondary! Note you have to adjust the parameters for low coverage cases. +Known to work with Minimap2 bam as input Parameters ********** @@ -152,100 +134,56 @@ General ------- + +---------------------------+-----------------------------------------------------------------------+ | Parameter | Description | +===========================+=======================================================================+ -| Minimum Support | Minimum number of reads that support a SV to be reported. Default: 10 | -+---------------------------+-----------------------------------------------------------------------+ -| Maximum Number of Splits | Maximum number of split segments a read is aligned at before it is | -| | ignored. Default: 7 | +| Minimum Support | Minimum number of reads supporting a SV to be reported. Default:auto | +---------------------------+-----------------------------------------------------------------------+ -| Maximum Distance | Maximum distance to group SV together. Sniffles estimates this | -| | parameter during runtime to group together SVs reported by different | -| | reads. Default: 1kb | +| Maximum Number of Splits | Maximum number of split segments per kb a read is aligned at before | +| | it is ignored. Default: 7 | +---------------------------+-----------------------------------------------------------------------+ -| Minimum Length | Minimum length of SV to be reported. Default: 30bp | +| Minimum SV Length | Minimum length of SV to be reported. Default: 50bp | +---------------------------+-----------------------------------------------------------------------+ | Minimum Mapping Quality | Minimum mapping quality of alignment to be taken into account. | | | Default: 20 | +---------------------------+-----------------------------------------------------------------------+ -| Number of Reads to Report | Number of read names to be reported that support the SV in the vcf | -| | file. Default: 0 | -+---------------------------+-----------------------------------------------------------------------+ -| Minimum Seq Size | Discard read if none of its segment is larger then this. Default: 2kb | -+---------------------------+-----------------------------------------------------------------------+ -| Minimum ZMW | Discard SV that are not supported by at least x zmws. This applies | -| | only for PacBio recognizable reads. Default: 0 | -+---------------------------+-----------------------------------------------------------------------+ -| Enable CS String | Enables the scan of CS string instead of Cigar and MD. Default: False| +| Minimum alignment length | Reads with less length aligned will be ignored. Default 100 | +---------------------------+-----------------------------------------------------------------------+ -| Clustering Options ------------------ + +----------------------------------------+-----------------------------------------------------------------------+ | Parameter | Description | +========================================+=======================================================================+ -| Cluster | Performs read based phasing to mark SVs that occur together. | -+----------------------------------------+-----------------------------------------------------------------------+ -| Cluster Support | Minimum number of reads supporting clustering of SV. Default: 1 | +| Cluster bin size | Initial cluster bin size. Default 100 | +----------------------------------------+-----------------------------------------------------------------------+ -| Allele Frequency Threshold | Filters the SV calls based on the allele frequency. Default: 0.0 | -+----------------------------------------+-----------------------------------------------------------------------+ -| Minimum Homogenous Allele Frequency | Minimum homogeneous threshold on allele frequency. Default: 0.8 | -+----------------------------------------+-----------------------------------------------------------------------+ -| Minimum Heterogeneous Allele Frequency | Minimum heterogeneous threshold on allele frequency. Default: 0.3 | +| Cluster Multiplier | Multiplier for SV start position standard deviation criterion in | +| | cluster merging [2.5] | +----------------------------------------+-----------------------------------------------------------------------+ -| Advanced Options ---------------- -+----------------------------------------+------------------------------------------------------------------------+ -| Parameter | Description | -+========================================+========================================================================+ -| Report BND | Reports the inversions and translocations as BND events. Default: False| -+----------------------------------------+------------------------------------------------------------------------+ -| Don't Report Seq | Don't report sequences for indels in vcf output. (Beta version!) | -| | Default: False | -+----------------------------------------+------------------------------------------------------------------------+ -| Ignore sd | Ignores the sd based filtering. Default: False | -+----------------------------------------+------------------------------------------------------------------------+ -| CCS Reads | Preset CCS Pacbio setting. (Beta) Default: False | -+----------------------------------------+------------------------------------------------------------------------+ - -| -Parameter Estimation Options ----------------------------- ++----------------------------------------+------------------------------------------------------------------------------+ +| Parameter | Description | ++========================================+==============================================================================+ +| Mosaic | Set Sniffles run mode to detect rare, somatic and mosaic SVs (default: False)| ++----------------------------------------+------------------------------------------------------------------------------+ -+----------------------------------------+------------------------------------------------------------------------+ -| Parameter | Description | -+========================================+========================================================================+ -| Skip Parameter Estimation | Enables the scan if only very few reads are present. Default: False | -+----------------------------------------+------------------------------------------------------------------------+ -| Estimated Deletion Ratio | Estimated ratio of deletions per read. Default: 0.0458369 | -+----------------------------------------+------------------------------------------------------------------------+ -| Estimated Insertion Ratio | Estimated ratio of insertions per read. Default: 0.049379 | -+----------------------------------------+------------------------------------------------------------------------+ -| Maximum Differences Per Window | Maximum differences per 100bp. Default: 50 | -+----------------------------------------+------------------------------------------------------------------------+ -| Maximum Distance Between Alignment | Maximum distance between alignment (indel) events. Default: 4 | -| Events | | -+----------------------------------------+------------------------------------------------------------------------+ - -| Output ****** VCF Info field description -| + Sniffles report multiple information in the Info field. The entries are delimited by: -| + +-------------------+------------------------------------------------------------------------------------------------------+ | IMPRECISE/PRECISE | Indicates the confidence of the exact breakpoint positions (bp). | +-------------------+------------------------------------------------------------------------------------------------------+ @@ -275,11 +213,11 @@ +-------------------+------------------------------------------------------------------------------------------------------+ | AF= | Allele frequency (only if run with –genotype) | +-------------------+------------------------------------------------------------------------------------------------------+ -| -Source: https://github.com/fritzsedlazeck/Sniffles/wiki + +Source: https://github.com/fritzsedlazeck/Sniffles ]]> - 10.1038/s41592-018-0001-7 + 10.1038/s41587-023-02024-y
diff -r 93c4b04a0769 -r 3f6f028f418f test-data/expected_outcome3.vcf --- a/test-data/expected_outcome3.vcf Mon Sep 14 07:39:07 2020 +0000 +++ b/test-data/expected_outcome3.vcf Tue Sep 24 19:30:03 2024 +0000 @@ -1,6 +1,7 @@ -##fileformat=VCFv4.1 -##source=Sniffles -##fileDate=20200901:51:47 AMef_minus +##fileformat=VCFv4.2 +##source=Sniffles2_2.4 +##command="/home/ross/miniconda3/envs/__sniffles@2.4/bin/sniffles -t 1 -i input.bam -v /tmp/tmpxu4n4sep/job_working_directory/000/6/outputs/dataset_424b7739-58c9-4942-8a28-964803e1e0e7.dat --minsupport 1 --max-splits-kb 0.1 --minsvlen 50 --mapq 20 --min-alignment-length 100 --cluster-binsize 100 --cluster-r 2.5 --allow-overwrite" +##fileDate="2024/09/14 14:16:19" ##contig= ##contig= ##contig= @@ -87,36 +88,58 @@ ##contig= ##contig= ##contig= +##ALT= ##ALT= ##ALT= ##ALT= -##ALT= -##ALT= -##ALT= -##FILTER= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= +##ALT= ##FORMAT= -##FORMAT= -##FORMAT= -#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT input.bam -21 21492143 0 AAAATATGTTTTAAATTGTTGATGATTTCAAATATTACAGGAATAGAAACTTTAACTTAACACAGAATGATTATCTGGCTTCCTTCTGTAAAATATCTTAAAGGTTAATGTGGATTTGAATTGCACAACATTCCAAATGCTTCTCCCCCTTTAAAAAGAATAGTCTTATCTTTTAAAAAGAATACTCATATCTTTTATTTTTCTTATGCAAGAGCAAAAATAAGGAAAAAATATATTATTCAGGAGAATCATGGCAACAATTTAAGGAAGACAAAACCAGTCTTTAGCAACCAGTATACATATATATCATCTTTTTTTCTGCTTTAGGGTAGGTTGCTTCTATCACCAACCTGTTCCAAATCCTCCTCTTACATGCACCATTAAAACATACTCTTTCAAAAACGAGGTGATAAAATCACAAATATCAATCTATCGTTCAGAAGAAGGTACCTTTATTTTACCTTAAAGGAATTTGATATATAATGGAGAAAAGAAAATTACTTTCT N . PASS PRECISE;SVMETHOD=Snifflesv1.0.12;CHR2=21;END=21492649;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=+-;STRANDS2=22,26,22,26;RE=48;REF_strand=19,24;Strandbias_pval=1;AF=0.527473 GT:DR:DV 0/1:43:48 +##FORMAT= +##FORMAT= +##FORMAT= +##FORMAT= +##FORMAT= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT SAMPLE +21 21492142 Sniffles2.DEL.0S14 N 52 PASS PRECISE;SVTYPE=DEL;SVLEN=-506;END=21492648;SUPPORT=48;COVERAGE=46,43,43,43,48;STRAND=+-;AF=1.000;STDEV_LEN=0.509;STDEV_POS=1.404 GT:GQ:DR:DV 1/1:60:0:48 diff -r 93c4b04a0769 -r 3f6f028f418f test-data/expected_outcome4.vcf --- a/test-data/expected_outcome4.vcf Mon Sep 14 07:39:07 2020 +0000 +++ b/test-data/expected_outcome4.vcf Tue Sep 24 19:30:03 2024 +0000 @@ -1,6 +1,7 @@ -##fileformat=VCFv4.1 -##source=Sniffles -##fileDate=20200901:51:57 AMef_minus +##fileformat=VCFv4.2 +##source=Sniffles2_2.4 +##command="/home/ross/miniconda3/envs/__sniffles@2.4/bin/sniffles -t 1 -i input.bam -v /tmp/tmpxu4n4sep/job_working_directory/000/8/outputs/dataset_b4585ddd-d52d-4087-9461-cb14a87c00d4.dat --minsupport auto --max-splits-kb 0.1 --minsvlen 50 --mapq 20 --min-alignment-length 100 --cluster-binsize 5 --cluster-r 2.5 --allow-overwrite" +##fileDate="2024/09/14 14:16:58" ##contig= ##contig= ##contig= @@ -87,36 +88,58 @@ ##contig= ##contig= ##contig= +##ALT= ##ALT= ##ALT= ##ALT= -##ALT= -##ALT= -##ALT= -##FILTER= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= +##ALT= ##FORMAT= -##FORMAT= -##FORMAT= -#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT input.bam -21 21492143 0 AAAATATGTTTTAAATTGTTGATGATTTCAAATATTACAGGAATAGAAACTTTAACTTAACACAGAATGATTATCTGGCTTCCTTCTGTAAAATATCTTAAAGGTTAATGTGGATTTGAATTGCACAACATTCCAAATGCTTCTCCCCCTTTAAAAAGAATAGTCTTATCTTTTAAAAAGAATACTCATATCTTTTATTTTTCTTATGCAAGAGCAAAAATAAGGAAAAAATATATTATTCAGGAGAATCATGGCAACAATTTAAGGAAGACAAAACCAGTCTTTAGCAACCAGTATACATATATATCATCTTTTTTTCTGCTTTAGGGTAGGTTGCTTCTATCACCAACCTGTTCCAAATCCTCCTCTTACATGCACCATTAAAACATACTCTTTCAAAAACGAGGTGATAAAATCACAAATATCAATCTATCGTTCAGAAGAAGGTACCTTTATTTTACCTTAAAGGAATTTGATATATAATGGAGAAAAGAAAATTACTTTCT N . PASS PRECISE;SVMETHOD=Snifflesv1.0.12;CHR2=21;END=21492649;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=+-;STRANDS2=22,26,22,26;RE=48;REF_strand=19,24;Strandbias_pval=1;AF=0.527473 GT:DR:DV 0/1:43:48 +##FORMAT= +##FORMAT= +##FORMAT= +##FORMAT= +##FORMAT= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT SAMPLE +21 21492142 Sniffles2.DEL.1S14 N 52 PASS PRECISE;SVTYPE=DEL;SVLEN=-506;END=21492648;SUPPORT=47;COVERAGE=48,43,43,43,51;STRAND=+-;AF=1.000;STDEV_LEN=0.500;STDEV_POS=1.384 GT:GQ:DR:DV 1/1:60:0:47 diff -r 93c4b04a0769 -r 3f6f028f418f test-data/expected_outcome5.vcf --- a/test-data/expected_outcome5.vcf Mon Sep 14 07:39:07 2020 +0000 +++ b/test-data/expected_outcome5.vcf Tue Sep 24 19:30:03 2024 +0000 @@ -1,6 +1,7 @@ -##fileformat=VCFv4.1 -##source=Sniffles -##fileDate=20200901:52:08 AMef_minus +##fileformat=VCFv4.2 +##source=Sniffles2_2.4 +##command="/home/ross/miniconda3/envs/__sniffles@2.4/bin/sniffles -t 1 -i input.bam -v /tmp/tmpxu4n4sep/job_working_directory/000/10/outputs/dataset_a28049ec-d2ca-4690-a3ea-fcb59a747505.dat --minsupport auto --max-splits-kb 0.1 --minsvlen 50 --mapq 20 --min-alignment-length 100 --cluster-binsize 100 --cluster-r 2.5 --mosaic --allow-overwrite" +##fileDate="2024/09/14 14:17:39" ##contig= ##contig= ##contig= @@ -87,36 +88,57 @@ ##contig= ##contig= ##contig= +##ALT= ##ALT= ##ALT= ##ALT= -##ALT= -##ALT= -##ALT= -##FILTER= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= +##ALT= ##FORMAT= -##FORMAT= -##FORMAT= -#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT input.bam -21 21492143 0 AAAATATGTTTTAAATTGTTGATGATTTCAAATATTACAGGAATAGAAACTTTAACTTAACACAGAATGATTATCTGGCTTCCTTCTGTAAAATATCTTAAAGGTTAATGTGGATTTGAATTGCACAACATTCCAAATGCTTCTCCCCCTTTAAAAAGAATAGTCTTATCTTTTAAAAAGAATACTCATATCTTTTATTTTTCTTATGCAAGAGCAAAAATAAGGAAAAAATATATTATTCAGGAGAATCATGGCAACAATTTAAGGAAGACAAAACCAGTCTTTAGCAACCAGTATACATATATATCATCTTTTTTTCTGCTTTAGGGTAGGTTGCTTCTATCACCAACCTGTTCCAAATCCTCCTCTTACATGCACCATTAAAACATACTCTTTCAAAAACGAGGTGATAAAATCACAAATATCAATCTATCGTTCAGAAGAAGGTACCTTTATTTTACCTTAAAGGAATTTGATATATAATGGAGAAAAGAAAATTACTTTCT N . PASS PRECISE;SVMETHOD=Snifflesv1.0.12;CHR2=21;END=21492649;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=+-;STRANDS2=22,26,22,26;RE=48;REF_strand=19,24;Strandbias_pval=1;AF=0.527473 GT:DR:DV 0/1:43:48 +##FORMAT= +##FORMAT= +##FORMAT= +##FORMAT= +##FORMAT= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT SAMPLE diff -r 93c4b04a0769 -r 3f6f028f418f test-data/expected_output.vcf --- a/test-data/expected_output.vcf Mon Sep 14 07:39:07 2020 +0000 +++ b/test-data/expected_output.vcf Tue Sep 24 19:30:03 2024 +0000 @@ -1,6 +1,7 @@ -##fileformat=VCFv4.1 -##source=Sniffles -##fileDate=20200901:51:22 AMef_minus +##fileformat=VCFv4.2 +##source=Sniffles2_2.4 +##command="/home/ross/miniconda3/envs/__sniffles@2.4/bin/sniffles -t 1 -i input.bam -v /tmp/tmpxu4n4sep/job_working_directory/000/2/outputs/dataset_5190dadb-3f7f-474a-a5d2-d0abcdc81344.dat --minsupport auto --max-splits-kb 0.1 --minsvlen 50 --mapq 20 --min-alignment-length 100 --cluster-binsize 100 --cluster-r 2.5 --allow-overwrite" +##fileDate="2024/09/14 14:15:00" ##contig= ##contig= ##contig= @@ -87,36 +88,58 @@ ##contig= ##contig= ##contig= +##ALT= ##ALT= ##ALT= ##ALT= -##ALT= -##ALT= -##ALT= -##FILTER= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= +##ALT= ##FORMAT= -##FORMAT= -##FORMAT= -#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT input.bam -21 21492143 0 AAAATATGTTTTAAATTGTTGATGATTTCAAATATTACAGGAATAGAAACTTTAACTTAACACAGAATGATTATCTGGCTTCCTTCTGTAAAATATCTTAAAGGTTAATGTGGATTTGAATTGCACAACATTCCAAATGCTTCTCCCCCTTTAAAAAGAATAGTCTTATCTTTTAAAAAGAATACTCATATCTTTTATTTTTCTTATGCAAGAGCAAAAATAAGGAAAAAATATATTATTCAGGAGAATCATGGCAACAATTTAAGGAAGACAAAACCAGTCTTTAGCAACCAGTATACATATATATCATCTTTTTTTCTGCTTTAGGGTAGGTTGCTTCTATCACCAACCTGTTCCAAATCCTCCTCTTACATGCACCATTAAAACATACTCTTTCAAAAACGAGGTGATAAAATCACAAATATCAATCTATCGTTCAGAAGAAGGTACCTTTATTTTACCTTAAAGGAATTTGATATATAATGGAGAAAAGAAAATTACTTTCT N . PASS PRECISE;SVMETHOD=Snifflesv1.0.12;CHR2=21;END=21492649;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=+-;STRANDS2=22,26,22,26;RE=48;REF_strand=19,24;Strandbias_pval=1;AF=0.527473 GT:DR:DV 0/1:43:48 +##FORMAT= +##FORMAT= +##FORMAT= +##FORMAT= +##FORMAT= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT SAMPLE +21 21492142 Sniffles2.DEL.0S14 N 52 PASS PRECISE;SVTYPE=DEL;SVLEN=-506;END=21492648;SUPPORT=48;COVERAGE=46,43,43,43,48;STRAND=+-;AF=1.000;STDEV_LEN=0.509;STDEV_POS=1.404 GT:GQ:DR:DV 1/1:60:0:48 diff -r 93c4b04a0769 -r 3f6f028f418f test-data/expected_output2.vcf --- a/test-data/expected_output2.vcf Mon Sep 14 07:39:07 2020 +0000 +++ b/test-data/expected_output2.vcf Tue Sep 24 19:30:03 2024 +0000 @@ -1,6 +1,7 @@ -##fileformat=VCFv4.1 -##source=Sniffles -##fileDate=20200901:51:36 AMef_minus +##fileformat=VCFv4.2 +##source=Sniffles2_2.4 +##command="/home/ross/miniconda3/envs/__sniffles@2.4/bin/sniffles -t 1 -i input.bam -v /tmp/tmpxu4n4sep/job_working_directory/000/4/outputs/dataset_5ee6e57f-c129-4b42-81b4-52428800dbe4.dat --minsupport auto --max-splits-kb 0.1 --minsvlen 50 --mapq 0 --min-alignment-length 100 --cluster-binsize 100 --cluster-r 2.5 --allow-overwrite" +##fileDate="2024/09/14 14:15:39" ##contig= ##contig= ##contig= @@ -87,37 +88,58 @@ ##contig= ##contig= ##contig= +##ALT= ##ALT= ##ALT= ##ALT= -##ALT= -##ALT= -##ALT= -##FILTER= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= +##ALT= ##FORMAT= -##FORMAT= -##FORMAT= -#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT input.bam -21 21492143 0 AAAATATGTTTTAAATTGTTGATGATTTCAAATATTACAGGAATAGAAACTTTAACTTAACACAGAATGATTATCTGGCTTCCTTCTGTAAAATATCTTAAAGGTTAATGTGGATTTGAATTGCACAACATTCCAAATGCTTCTCCCCCTTTAAAAAGAATAGTCTTATCTTTTAAAAAGAATACTCATATCTTTTATTTTTCTTATGCAAGAGCAAAAATAAGGAAAAAATATATTATTCAGGAGAATCATGGCAACAATTTAAGGAAGACAAAACCAGTCTTTAGCAACCAGTATACATATATATCATCTTTTTTTCTGCTTTAGGGTAGGTTGCTTCTATCACCAACCTGTTCCAAATCCTCCTCTTACATGCACCATTAAAACATACTCTTTCAAAAACGAGGTGATAAAATCACAAATATCAATCTATCGTTCAGAAGAAGGTACCTTTATTTTACCTTAAAGGAATTTGATATATAATGGAGAAAAGAAAATTACTTTCT N . PASS PRECISE;SVMETHOD=Snifflesv1.0.12;CHR2=21;END=21492649;STD_quant_start=0.000000;STD_quant_stop=0.000000;Kurtosis_quant_start=0.572582;Kurtosis_quant_stop=1.417662;SVTYPE=DEL;RNAMES=21_21470395_-,21_21478921_-,21_21480008_-,21_21480363_-,21_21481423_-,21_21481887_+,21_21482167_+,21_21482571_-,21_21483235_+,21_21484045_+,21_21484064_-,21_21484222_+,21_21484629_-,21_21485143_+,21_21485316_+,21_21486018_+,21_21486410_+,21_21486549_+,21_21486783_-,21_21487049_+,21_21487332_-,21_21487543_-,21_21487743_+,21_21487803_-,21_21487987_-,21_21488230_-,21_21488258_-,21_21488405_+,21_21488511_-,21_21488850_-,21_21489305_+,21_21489335_-,21_21489385_-,21_21489559_-,21_21489628_+,21_21490045_+,21_21490154_+,21_21490154_-,21_21490705_+,21_21491059_-,21_21491140_-,21_21491170_+,21_21491195_-,21_21491512_-,21_21491645_-,21_21491660_+,21_21491808_+,21_21491999_+;SUPTYPE=AL,SR;SVLEN=-506;STRANDS=+-;STRANDS2=22,26,22,26;RE=48;REF_strand=19,24;Strandbias_pval=1;AF=0.527473 GT:DR:DV 0/1:43:48 +##FORMAT= +##FORMAT= +##FORMAT= +##FORMAT= +##FORMAT= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT SAMPLE +21 21492142 Sniffles2.DEL.0S14 N 52 PASS PRECISE;SVTYPE=DEL;SVLEN=-506;END=21492648;SUPPORT=48;COVERAGE=46,43,43,43,48;STRAND=+-;AF=1.000;STDEV_LEN=0.509;STDEV_POS=1.404 GT:GQ:DR:DV 1/1:60:0:48