# HG changeset patch # User iuc # Date 1727605416 0 # Node ID 43fffeed243f673191e4f5bca31737de277394c8 # Parent 09f5c6f3088a156c2632cf5fef8210eebdc24a7b planemo upload for repository https://github.com/galaxyproject/tools-iuc commit 03fbb13717809f9198ab113192d241599705ef7b diff -r 09f5c6f3088a -r 43fffeed243f sniffles.xml --- a/sniffles.xml Thu Sep 26 11:44:13 2024 +0000 +++ b/sniffles.xml Sun Sep 29 10:23:36 2024 +0000 @@ -1,4 +1,4 @@ - + Structural variation caller using third generation sequencing 2.4 @@ -16,8 +16,8 @@ Use a genome fasta file from the current history - +
- - - - + + + + +
- +
@@ -90,6 +95,7 @@ + @@ -130,103 +136,136 @@ What is Sniffles? ***************** + 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). +---- + Inputs ****** Known to work with Minimap2 bam as input +Optional reference fasta with matching contig names will allow deletions to be determined. + +---- Parameters ********** + General ------- -+---------------------------+-----------------------------------------------------------------------+ -| Parameter | Description | -+===========================+=======================================================================+ -| Minimum Support | Minimum number of reads supporting a SV to be reported. Default:auto | -+---------------------------+-----------------------------------------------------------------------+ -| Maximum Number of Splits | Maximum number of split segments per kb a read is aligned at before | -| | it is ignored. Default: 7 | -+---------------------------+-----------------------------------------------------------------------+ -| 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 | -+---------------------------+-----------------------------------------------------------------------+ -| Minimum alignment length | Reads with less length aligned will be ignored. Default 100 | -+---------------------------+-----------------------------------------------------------------------+ ++----------------------------+-------------------------------------------------------------------------+ +| Parameter | Description | ++============================+=========================================================================+ +| Minimum Support | Minimum number of reads supporting a SV to be reported. Default:auto | ++----------------------------+-------------------------------------------------------------------------+ +| Maximum Number of Splits | Maximum number of split segments per kb a read is aligned at before | +| | it is ignored. Default: 7 | ++----------------------------+-------------------------------------------------------------------------+ +| 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 | ++----------------------------+-------------------------------------------------------------------------+ +| Minimum alignment length | Reads with less length aligned will be ignored. Default 100 | ++----------------------------+-------------------------------------------------------------------------+ + + Clustering Options ------------------ -+----------------------------------------+-----------------------------------------------------------------------+ -| Parameter | Description | -+========================================+=======================================================================+ -| Cluster bin size | Initial cluster bin size. Default 100 | -+----------------------------------------+-----------------------------------------------------------------------+ -| Cluster Multiplier | Multiplier for SV start position standard deviation criterion in | -| | cluster merging [2.5] | -+----------------------------------------+-----------------------------------------------------------------------+ ++---------------------+------------------------------------------------------------------------+ +| Parameter | Description | ++=====================+========================================================================+ +| Cluster bin size | Initial cluster bin size. Default 100 | ++---------------------+------------------------------------------------------------------------+ +| Cluster Multiplier | Multiplier for SV start position standard deviation criterion in | +| | cluster merging [2.5] | ++---------------------+------------------------------------------------------------------------+ + + Advanced Options ---------------- -+----------------------------------------+------------------------------------------------------------------------------+ -| Parameter | Description | -+========================================+==============================================================================+ -| Mosaic | Set Sniffles run mode to detect rare, somatic and mosaic SVs (default: False)| -+----------------------------------------+------------------------------------------------------------------------------+ ++-------------+--------------------------------------------------------------------------------+ +| Parameter | Description | ++=============+================================================================================+ +| Mosaic | Set Sniffles run mode to detect rare, somatic and mosaic SVs (default: False)| ++-------------+--------------------------------------------------------------------------------+ -Output +---- + +VCF information fields from the VCF header +****************************************** + ++------------------+-----------+-----------------------------------------------------------------------------------------------+ +| Field | Type | Description | ++==================+===========+===============================================================================================+ +| PRECISE | Flag | Structural variation with precise breakpoints | ++------------------+-----------+-----------------------------------------------------------------------------------------------+ +| IMPRECISE | Flag | Structural variation with imprecise breakpoints | ++------------------+-----------+-----------------------------------------------------------------------------------------------+ +| MOSAIC | Flag | Structural variation classified as putative mosaic | ++------------------+-----------+-----------------------------------------------------------------------------------------------+ +| SVLEN | Integer | Length of structural variation | ++------------------+-----------+-----------------------------------------------------------------------------------------------+ +| SVTYPE | String | Type of structural variation | ++------------------+-----------+-----------------------------------------------------------------------------------------------+ +| CHR2 | String | Mate chromsome for BND SVs | ++------------------+-----------+-----------------------------------------------------------------------------------------------+ +| SUPPORT | Integer| Number of reads supporting the structural variation | ++------------------+-----------+-----------------------------------------------------------------------------------------------+ +| SUPPORT_INLINE | Integer| Number of reads supporting an INS/DEL SV (non-split events only) | ++------------------+-----------+-----------------------------------------------------------------------------------------------+ +| SUPPORT_LONG | Integer| Number of soft-clipped reads putatively supporting the long insertion SV | ++------------------+-----------+-----------------------------------------------------------------------------------------------+ +| END | Integer| End position of structural variation | ++------------------+-----------+-----------------------------------------------------------------------------------------------+ +| STDEV_POS | Float | Standard deviation of structural variation start position | ++------------------+-----------+-----------------------------------------------------------------------------------------------+ +| STDEV_LEN | Float | Standard deviation of structural variation length | ++------------------+-----------+-----------------------------------------------------------------------------------------------+ +| COVERAGE | Float | Coverage near upstream start, center, end, downstream of structural variation | ++------------------+-----------+-----------------------------------------------------------------------------------------------+ +| STRAND | String | Strands of supporting reads for structural variant | ++------------------+-----------+-----------------------------------------------------------------------------------------------+ +| AC | Integer| Allele count summed up over all samples | ++------------------+-----------+-----------------------------------------------------------------------------------------------+ +| SUPP_VEC | String | List of read support for all samples | ++------------------+-----------+-----------------------------------------------------------------------------------------------+ +| CONSENSUS_SUP | Integer| Number of reads that support the generated insertion (INS) consensus sequence | ++------------------+-----------+-----------------------------------------------------------------------------------------------+ +| RNAMES | String | Names of supporting reads (if enabled with --output-rnames) | ++------------------+-----------+-----------------------------------------------------------------------------------------------+ +| AF | Float | Allele Frequency | ++------------------+-----------+-----------------------------------------------------------------------------------------------+ +| NM | Float | Mean number of query alignment length adjusted mismatches of supporting reads | ++------------------+-----------+-----------------------------------------------------------------------------------------------+ +| PHASE | String | Phasing information derived from supporting reads | ++------------------+-----------+-----------------------------------------------------------------------------------------------+ + + +---- + + +Source ****** -VCF Info field description - -Sniffles report multiple information in the Info field. The entries are delimited by: +https://github.com/fritzsedlazeck/Sniffles -+-------------------+------------------------------------------------------------------------------------------------------+ -| IMPRECISE/PRECISE | Indicates the confidence of the exact breakpoint positions (bp). | -+-------------------+------------------------------------------------------------------------------------------------------+ -| CHR2= | The chromosome of the second breakpoint of the SV reported. | -+-------------------+------------------------------------------------------------------------------------------------------+ -| END= | The position (bp) of the second breakpoint of the SV reported. | -+-------------------+------------------------------------------------------------------------------------------------------+ -| ZMW= | For PacBio based reads, shows the number of ZMW that support the SV. | -+-------------------+------------------------------------------------------------------------------------------------------+ -| SVTYPE= | The type of the SV. (see Alt field above) | -+-------------------+------------------------------------------------------------------------------------------------------+ -| SUPTYPE= | Indicates what evidence supports the SVs (SR: Split Reads, AL: Alignment, NR: Noisy Region). | -+-------------------+------------------------------------------------------------------------------------------------------+ -| STD_quant_start= | The standard deviation of the start breakpoints. | -+-------------------+------------------------------------------------------------------------------------------------------+ -| STD_quant_stop= | The standard deviation of the stop breakpoints. | -+-------------------+------------------------------------------------------------------------------------------------------+ -| RNAMES= | A comma separated list of read names that support the SV event. Controlled by -n Parameter. | -+-------------------+------------------------------------------------------------------------------------------------------+ -| SVLEN= | Indicates the length of SVs. | -+-------------------+------------------------------------------------------------------------------------------------------+ -| STRANDS= | Strand information at both breakpoints. | -+-------------------+------------------------------------------------------------------------------------------------------+ -| SEQ= | If reportable shows the sequence of the indels. | -+-------------------+------------------------------------------------------------------------------------------------------+ -| RE= | Number of reads supporting the variance. | -+-------------------+------------------------------------------------------------------------------------------------------+ -| AF= | Allele frequency (only if run with –genotype) | -+-------------------+------------------------------------------------------------------------------------------------------+ - -Source: https://github.com/fritzsedlazeck/Sniffles ]]> diff -r 09f5c6f3088a -r 43fffeed243f test-data/expected_outcome3.vcf --- a/test-data/expected_outcome3.vcf Thu Sep 26 11:44:13 2024 +0000 +++ b/test-data/expected_outcome3.vcf Sun Sep 29 10:23:36 2024 +0000 @@ -1,7 +1,7 @@ ##fileformat=VCFv4.2 ##source=Sniffles2_2.4 -##command="/home/ross/miniconda3/envs/__sniffles@2.4/bin/sniffles -t 1 -i input.bam -v /tmp/tmpy46o57ly/job_working_directory/000/6/outputs/dataset_e1aae210-b20c-453b-91cd-8b3e215c9cbf.dat --allow-overwrite --minsupport 1 --max-splits-kb 0.1 --minsvlen 50 --mapq 20 --min-alignment-length 100 --cluster-binsize 100 --cluster-r 2.5" -##fileDate="2024/09/26 18:22:15" +##command="/home/ross/miniconda3/envs/__sniffles@2.4/bin/sniffles -t 1 -i input.bam -v /tmp/tmpbu008nw6/job_working_directory/000/6/outputs/dataset_85e708bb-74e2-4686-8dca-f0e9404b4e44.dat --allow-overwrite --minsupport 1 --max-splits-kb 0.1 --minsvlen 50 --mapq 20 --min-alignment-length 100 --cluster-binsize 100 --cluster-r 2.5" +##fileDate="2024/09/28 23:19:48" ##contig= ##contig= ##contig= diff -r 09f5c6f3088a -r 43fffeed243f test-data/expected_outcome4.vcf --- a/test-data/expected_outcome4.vcf Thu Sep 26 11:44:13 2024 +0000 +++ b/test-data/expected_outcome4.vcf Sun Sep 29 10:23:36 2024 +0000 @@ -1,7 +1,7 @@ ##fileformat=VCFv4.2 ##source=Sniffles2_2.4 -##command="/home/ross/miniconda3/envs/__sniffles@2.4/bin/sniffles -t 1 -i input.bam -v /tmp/tmpy46o57ly/job_working_directory/000/8/outputs/dataset_ffe443bd-f07b-4644-a417-8bd2aec4cfab.dat --allow-overwrite --minsupport auto --max-splits-kb 0.1 --minsvlen 50 --mapq 20 --min-alignment-length 100 --cluster-binsize 5 --cluster-r 2.5" -##fileDate="2024/09/26 18:22:53" +##command="/home/ross/miniconda3/envs/__sniffles@2.4/bin/sniffles -t 1 -i input.bam -v /tmp/tmpbu008nw6/job_working_directory/000/8/outputs/dataset_76b2ed7a-d091-4613-bda7-505cd86d4277.dat --allow-overwrite --minsupport auto --max-splits-kb 0.1 --minsvlen 50 --mapq 20 --min-alignment-length 100 --cluster-binsize 5 --cluster-r 2.5" +##fileDate="2024/09/28 23:20:28" ##contig= ##contig= ##contig= diff -r 09f5c6f3088a -r 43fffeed243f test-data/expected_outcome5.vcf --- a/test-data/expected_outcome5.vcf Thu Sep 26 11:44:13 2024 +0000 +++ b/test-data/expected_outcome5.vcf Sun Sep 29 10:23:36 2024 +0000 @@ -1,7 +1,7 @@ ##fileformat=VCFv4.2 ##source=Sniffles2_2.4 -##command="/home/ross/miniconda3/envs/__sniffles@2.4/bin/sniffles -t 1 -i input.bam -v /tmp/tmpy46o57ly/job_working_directory/000/10/outputs/dataset_8b1d2d1f-49f4-47d9-8390-b933099f1342.dat --allow-overwrite --minsupport auto --max-splits-kb 0.1 --minsvlen 50 --mapq 20 --min-alignment-length 100 --cluster-binsize 100 --cluster-r 2.5 --mosaic" -##fileDate="2024/09/26 18:23:34" +##command="/home/ross/miniconda3/envs/__sniffles@2.4/bin/sniffles -t 1 -i input.bam -v /tmp/tmpbu008nw6/job_working_directory/000/10/outputs/dataset_a9aaaabe-54e2-4f60-9a73-0454076bd7c5.dat --allow-overwrite --minsupport auto --max-splits-kb 0.1 --minsvlen 50 --mapq 20 --min-alignment-length 100 --cluster-binsize 100 --cluster-r 2.5 --mosaic" +##fileDate="2024/09/28 23:21:10" ##contig= ##contig= ##contig= diff -r 09f5c6f3088a -r 43fffeed243f test-data/expected_outcome6.vcf --- a/test-data/expected_outcome6.vcf Thu Sep 26 11:44:13 2024 +0000 +++ b/test-data/expected_outcome6.vcf Sun Sep 29 10:23:36 2024 +0000 @@ -1,7 +1,7 @@ ##fileformat=VCFv4.2 ##source=Sniffles2_2.4 -##command="/home/ross/miniconda3/envs/__sniffles@2.4/bin/sniffles -t 1 -i input.bam -v /tmp/tmpy46o57ly/job_working_directory/000/13/outputs/dataset_43c28376-bced-457b-9bc3-79b482047f0a.dat --allow-overwrite --reference /tmp/tmpy46o57ly/files/d/8/7/dataset_d879002d-9f55-45f7-a278-e6c9b6881fe8.dat --minsupport auto --max-splits-kb 0.1 --minsvlen 50 --mapq 20 --min-alignment-length 100 --cluster-binsize 100 --cluster-r 2.5" -##fileDate="2024/09/26 18:24:13" +##command="/home/ross/miniconda3/envs/__sniffles@2.4/bin/sniffles -t 1 -i input.bam -v /tmp/tmpbu008nw6/job_working_directory/000/13/outputs/dataset_93c07e69-9ce4-4394-84c8-8a51cb2e2c89.dat --allow-overwrite --reference reference.fa --minsupport auto --max-splits-kb 0.1 --minsvlen 50 --mapq 20 --min-alignment-length 100 --cluster-binsize 100 --cluster-r 2.5" +##fileDate="2024/09/28 23:21:51" ##contig= ##contig= ##contig= diff -r 09f5c6f3088a -r 43fffeed243f test-data/expected_output.vcf --- a/test-data/expected_output.vcf Thu Sep 26 11:44:13 2024 +0000 +++ b/test-data/expected_output.vcf Sun Sep 29 10:23:36 2024 +0000 @@ -1,7 +1,7 @@ ##fileformat=VCFv4.2 ##source=Sniffles2_2.4 -##command="/home/ross/miniconda3/envs/__sniffles@2.4/bin/sniffles -t 1 -i input.bam -v /tmp/tmpy46o57ly/job_working_directory/000/2/outputs/dataset_b3c7245e-3129-45a7-9a94-f6e837049557.dat --allow-overwrite --minsupport auto --max-splits-kb 0.1 --minsvlen 50 --mapq 20 --min-alignment-length 100 --cluster-binsize 100 --cluster-r 2.5" -##fileDate="2024/09/26 18:20:57" +##command="/home/ross/miniconda3/envs/__sniffles@2.4/bin/sniffles -t 1 -i input.bam -v /tmp/tmpbu008nw6/job_working_directory/000/2/outputs/dataset_c3cc0dff-254a-4e6b-837f-fa8a4db7f051.dat --allow-overwrite --minsupport auto --max-splits-kb 0.1 --minsvlen 50 --mapq 20 --min-alignment-length 100 --detect-large-ins 0 --cluster-binsize 100 --cluster-r 2.5" +##fileDate="2024/09/28 23:18:28" ##contig= ##contig= ##contig= diff -r 09f5c6f3088a -r 43fffeed243f test-data/expected_output2.vcf --- a/test-data/expected_output2.vcf Thu Sep 26 11:44:13 2024 +0000 +++ b/test-data/expected_output2.vcf Sun Sep 29 10:23:36 2024 +0000 @@ -1,7 +1,7 @@ ##fileformat=VCFv4.2 ##source=Sniffles2_2.4 -##command="/home/ross/miniconda3/envs/__sniffles@2.4/bin/sniffles -t 1 -i input.bam -v /tmp/tmpy46o57ly/job_working_directory/000/4/outputs/dataset_f76d3b7c-c912-4135-91ca-b3ca11aa77f2.dat --allow-overwrite --minsupport auto --max-splits-kb 0.1 --minsvlen 50 --mapq 0 --min-alignment-length 100 --cluster-binsize 100 --cluster-r 2.5" -##fileDate="2024/09/26 18:21:36" +##command="/home/ross/miniconda3/envs/__sniffles@2.4/bin/sniffles -t 1 -i input.bam -v /tmp/tmpbu008nw6/job_working_directory/000/4/outputs/dataset_02006b89-2710-4fcc-9ac1-52a711eebee9.dat --allow-overwrite --minsupport auto --max-splits-kb 0.1 --minsvlen 50 --mapq 0 --min-alignment-length 100 --cluster-binsize 100 --cluster-r 2.5" +##fileDate="2024/09/28 23:19:08" ##contig= ##contig= ##contig=