Mercurial > repos > iuc > sniffles
changeset 5:ceff2f6a5368 draft default tip
planemo upload for repository https://github.com/galaxyproject/tools-iuc commit a2dd716a67d60533534269faef8e87e30496bce0
author | iuc |
---|---|
date | Thu, 14 Nov 2024 07:25:22 +0000 |
parents | 43fffeed243f |
children | |
files | sniffles.xml test-data/expected_outcome3.vcf test-data/expected_outcome4.vcf test-data/expected_outcome5.vcf test-data/expected_outcome6.vcf test-data/expected_output.vcf test-data/expected_output2.vcf |
diffstat | 7 files changed, 55 insertions(+), 49 deletions(-) [+] |
line wrap: on
line diff
--- a/sniffles.xml Sun Sep 29 10:23:36 2024 +0000 +++ b/sniffles.xml Thu Nov 14 07:25:22 2024 +0000 @@ -1,7 +1,7 @@ -<tool id="sniffles" name="sniffles" version="@TOOL_VERSION@+galaxy1" profile="23.0"> +<tool id="sniffles" name="sniffles" version="@TOOL_VERSION@+galaxy0" profile="23.0"> <description>Structural variation caller using third generation sequencing</description> <macros> - <token name="@TOOL_VERSION@">2.4</token> + <token name="@TOOL_VERSION@">2.5.2</token> </macros> <xrefs> <xref type="bio.tools">sniffles</xref>
--- a/test-data/expected_outcome3.vcf Sun Sep 29 10:23:36 2024 +0000 +++ b/test-data/expected_outcome3.vcf Thu Nov 14 07:25:22 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/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" +##source=Sniffles2_2.5 +##command="/home/ross/miniconda3/envs/__sniffles@2.5.2/bin/sniffles -t 1 -i input.bam -v /tmp/tmpqwecq14c/job_working_directory/000/6/outputs/dataset_c8216b3d-5cba-4681-a3da-03306ae2e22a.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="2024/11/13 10:03:40" ##contig=<ID=1,length=249250621> ##contig=<ID=2,length=243199373> ##contig=<ID=3,length=198022430> @@ -106,14 +106,15 @@ ##FILTER=<ID=STDEV_LEN,Description="SV length standard deviation filter"> ##FILTER=<ID=COV_MIN,Description="Minimum coverage filter"> ##FILTER=<ID=COV_MIN_GT,Description="Minimum coverage filter (missing genotype)"> -##FILTER=<ID=COV_CHANGE,Description="Coverage change filter"> +##FILTER=<ID=COV_CHANGE_DEL,Description="Coverage change filter for DEL"> +##FILTER=<ID=COV_CHANGE_DUP,Description="Coverage change filter for DUP"> ##FILTER=<ID=COV_CHANGE_INS,Description="Coverage change filter for INS"> ##FILTER=<ID=COV_CHANGE_FRAC_US,Description="Coverage fractional change filter: upstream-start"> ##FILTER=<ID=COV_CHANGE_FRAC_SC,Description="Coverage fractional change filter: start-center"> ##FILTER=<ID=COV_CHANGE_FRAC_CE,Description="Coverage fractional change filter: center-end"> ##FILTER=<ID=COV_CHANGE_FRAC_ED,Description="Coverage fractional change filter: end-downstream"> -##FILTER=<ID=MOSAIC_AF,Description="Mosaic variant allele frequency filter"> -##FILTER=<ID=NOT_MOSAIC_AF,Description="Variant allele frequency filter for non-mosaic"> +##FILTER=<ID=MOSAIC_VAF,Description="Mosaic variant allele fraction filter"> +##FILTER=<ID=NOT_MOSAIC_VAF,Description="Variant allele fraction filter for non-mosaic"> ##FILTER=<ID=ALN_NM,Description="Length adjusted mismatch filter"> ##FILTER=<ID=STRAND_BND,Description="Strand support filter for BNDs"> ##FILTER=<ID=STRAND,Description="Strand support filter for germline SVs"> @@ -138,8 +139,8 @@ ##INFO=<ID=SUPP_VEC,Number=1,Type=String,Description="List of read support for all samples"> ##INFO=<ID=CONSENSUS_SUPPORT,Number=1,Type=Integer,Description="Number of reads that support the generated insertion (INS) consensus sequence"> ##INFO=<ID=RNAMES,Number=.,Type=String,Description="Names of supporting reads (if enabled with --output-rnames)"> -##INFO=<ID=AF,Number=1,Type=Float,Description="Allele Frequency"> +##INFO=<ID=VAF,Number=1,Type=Float,Description="Variant Allele Fraction"> ##INFO=<ID=NM,Number=.,Type=Float,Description="Mean number of query alignment length adjusted mismatches of supporting reads"> ##INFO=<ID=PHASE,Number=.,Type=String,Description="Phasing information derived from supporting reads, represented as list of: HAPLOTYPE,PHASESET,HAPLOTYPE_SUPPORT,PHASESET_SUPPORT,HAPLOTYPE_FILTER,PHASESET_FILTER"> #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT SAMPLE -21 21492142 Sniffles2.DEL.0S14 N <DEL> 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 +21 21492142 Sniffles2.DEL.0S14 N <DEL> 52 PASS PRECISE;SVTYPE=DEL;SVLEN=-506;END=21492647;SUPPORT=48;COVERAGE=46,43,43,43,48;STRAND=+-;STDEV_LEN=0.509;STDEV_POS=1.404;VAF=0.527 GT:GQ:DR:DV 0/1:60:43:48
--- a/test-data/expected_outcome4.vcf Sun Sep 29 10:23:36 2024 +0000 +++ b/test-data/expected_outcome4.vcf Thu Nov 14 07:25:22 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/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" +##source=Sniffles2_2.5 +##command="/home/ross/miniconda3/envs/__sniffles@2.5.2/bin/sniffles -t 1 -i input.bam -v /tmp/tmpqwecq14c/job_working_directory/000/8/outputs/dataset_04542ae5-5626-433d-b23d-a820097bb524.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="2024/11/13 10:04:19" ##contig=<ID=1,length=249250621> ##contig=<ID=2,length=243199373> ##contig=<ID=3,length=198022430> @@ -106,14 +106,15 @@ ##FILTER=<ID=STDEV_LEN,Description="SV length standard deviation filter"> ##FILTER=<ID=COV_MIN,Description="Minimum coverage filter"> ##FILTER=<ID=COV_MIN_GT,Description="Minimum coverage filter (missing genotype)"> -##FILTER=<ID=COV_CHANGE,Description="Coverage change filter"> +##FILTER=<ID=COV_CHANGE_DEL,Description="Coverage change filter for DEL"> +##FILTER=<ID=COV_CHANGE_DUP,Description="Coverage change filter for DUP"> ##FILTER=<ID=COV_CHANGE_INS,Description="Coverage change filter for INS"> ##FILTER=<ID=COV_CHANGE_FRAC_US,Description="Coverage fractional change filter: upstream-start"> ##FILTER=<ID=COV_CHANGE_FRAC_SC,Description="Coverage fractional change filter: start-center"> ##FILTER=<ID=COV_CHANGE_FRAC_CE,Description="Coverage fractional change filter: center-end"> ##FILTER=<ID=COV_CHANGE_FRAC_ED,Description="Coverage fractional change filter: end-downstream"> -##FILTER=<ID=MOSAIC_AF,Description="Mosaic variant allele frequency filter"> -##FILTER=<ID=NOT_MOSAIC_AF,Description="Variant allele frequency filter for non-mosaic"> +##FILTER=<ID=MOSAIC_VAF,Description="Mosaic variant allele fraction filter"> +##FILTER=<ID=NOT_MOSAIC_VAF,Description="Variant allele fraction filter for non-mosaic"> ##FILTER=<ID=ALN_NM,Description="Length adjusted mismatch filter"> ##FILTER=<ID=STRAND_BND,Description="Strand support filter for BNDs"> ##FILTER=<ID=STRAND,Description="Strand support filter for germline SVs"> @@ -138,8 +139,8 @@ ##INFO=<ID=SUPP_VEC,Number=1,Type=String,Description="List of read support for all samples"> ##INFO=<ID=CONSENSUS_SUPPORT,Number=1,Type=Integer,Description="Number of reads that support the generated insertion (INS) consensus sequence"> ##INFO=<ID=RNAMES,Number=.,Type=String,Description="Names of supporting reads (if enabled with --output-rnames)"> -##INFO=<ID=AF,Number=1,Type=Float,Description="Allele Frequency"> +##INFO=<ID=VAF,Number=1,Type=Float,Description="Variant Allele Fraction"> ##INFO=<ID=NM,Number=.,Type=Float,Description="Mean number of query alignment length adjusted mismatches of supporting reads"> ##INFO=<ID=PHASE,Number=.,Type=String,Description="Phasing information derived from supporting reads, represented as list of: HAPLOTYPE,PHASESET,HAPLOTYPE_SUPPORT,PHASESET_SUPPORT,HAPLOTYPE_FILTER,PHASESET_FILTER"> #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT SAMPLE -21 21492142 Sniffles2.DEL.1S14 N <DEL> 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 +21 21492142 Sniffles2.DEL.1S14 N <DEL> 52 PASS PRECISE;SVTYPE=DEL;SVLEN=-506;END=21492647;SUPPORT=47;COVERAGE=48,43,43,43,51;STRAND=+-;STDEV_LEN=0.500;STDEV_POS=1.384;VAF=0.522 GT:GQ:DR:DV 0/1:60:43:47
--- a/test-data/expected_outcome5.vcf Sun Sep 29 10:23:36 2024 +0000 +++ b/test-data/expected_outcome5.vcf Thu Nov 14 07:25:22 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/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" +##source=Sniffles2_2.5 +##command="/home/ross/miniconda3/envs/__sniffles@2.5.2/bin/sniffles -t 1 -i input.bam -v /tmp/tmpqwecq14c/job_working_directory/000/10/outputs/dataset_0e92fd8e-42f6-4ba5-a5f3-5ec578798305.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="2024/11/13 10:05:00" ##contig=<ID=1,length=249250621> ##contig=<ID=2,length=243199373> ##contig=<ID=3,length=198022430> @@ -106,14 +106,15 @@ ##FILTER=<ID=STDEV_LEN,Description="SV length standard deviation filter"> ##FILTER=<ID=COV_MIN,Description="Minimum coverage filter"> ##FILTER=<ID=COV_MIN_GT,Description="Minimum coverage filter (missing genotype)"> -##FILTER=<ID=COV_CHANGE,Description="Coverage change filter"> +##FILTER=<ID=COV_CHANGE_DEL,Description="Coverage change filter for DEL"> +##FILTER=<ID=COV_CHANGE_DUP,Description="Coverage change filter for DUP"> ##FILTER=<ID=COV_CHANGE_INS,Description="Coverage change filter for INS"> ##FILTER=<ID=COV_CHANGE_FRAC_US,Description="Coverage fractional change filter: upstream-start"> ##FILTER=<ID=COV_CHANGE_FRAC_SC,Description="Coverage fractional change filter: start-center"> ##FILTER=<ID=COV_CHANGE_FRAC_CE,Description="Coverage fractional change filter: center-end"> ##FILTER=<ID=COV_CHANGE_FRAC_ED,Description="Coverage fractional change filter: end-downstream"> -##FILTER=<ID=MOSAIC_AF,Description="Mosaic variant allele frequency filter"> -##FILTER=<ID=NOT_MOSAIC_AF,Description="Variant allele frequency filter for non-mosaic"> +##FILTER=<ID=MOSAIC_VAF,Description="Mosaic variant allele fraction filter"> +##FILTER=<ID=NOT_MOSAIC_VAF,Description="Variant allele fraction filter for non-mosaic"> ##FILTER=<ID=ALN_NM,Description="Length adjusted mismatch filter"> ##FILTER=<ID=STRAND_BND,Description="Strand support filter for BNDs"> ##FILTER=<ID=STRAND,Description="Strand support filter for germline SVs"> @@ -138,7 +139,7 @@ ##INFO=<ID=SUPP_VEC,Number=1,Type=String,Description="List of read support for all samples"> ##INFO=<ID=CONSENSUS_SUPPORT,Number=1,Type=Integer,Description="Number of reads that support the generated insertion (INS) consensus sequence"> ##INFO=<ID=RNAMES,Number=.,Type=String,Description="Names of supporting reads (if enabled with --output-rnames)"> -##INFO=<ID=AF,Number=1,Type=Float,Description="Allele Frequency"> +##INFO=<ID=VAF,Number=1,Type=Float,Description="Variant Allele Fraction"> ##INFO=<ID=NM,Number=.,Type=Float,Description="Mean number of query alignment length adjusted mismatches of supporting reads"> ##INFO=<ID=PHASE,Number=.,Type=String,Description="Phasing information derived from supporting reads, represented as list of: HAPLOTYPE,PHASESET,HAPLOTYPE_SUPPORT,PHASESET_SUPPORT,HAPLOTYPE_FILTER,PHASESET_FILTER"> #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT SAMPLE
--- a/test-data/expected_outcome6.vcf Sun Sep 29 10:23:36 2024 +0000 +++ b/test-data/expected_outcome6.vcf Thu Nov 14 07:25:22 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/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" +##source=Sniffles2_2.5 +##command="/home/ross/miniconda3/envs/__sniffles@2.5.2/bin/sniffles -t 1 -i input.bam -v /tmp/tmpqwecq14c/job_working_directory/000/13/outputs/dataset_46e2d702-73e3-453f-9f8c-fba7467d34a7.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="2024/11/13 10:05:40" ##contig=<ID=1,length=249250621> ##contig=<ID=2,length=243199373> ##contig=<ID=3,length=198022430> @@ -106,14 +106,15 @@ ##FILTER=<ID=STDEV_LEN,Description="SV length standard deviation filter"> ##FILTER=<ID=COV_MIN,Description="Minimum coverage filter"> ##FILTER=<ID=COV_MIN_GT,Description="Minimum coverage filter (missing genotype)"> -##FILTER=<ID=COV_CHANGE,Description="Coverage change filter"> +##FILTER=<ID=COV_CHANGE_DEL,Description="Coverage change filter for DEL"> +##FILTER=<ID=COV_CHANGE_DUP,Description="Coverage change filter for DUP"> ##FILTER=<ID=COV_CHANGE_INS,Description="Coverage change filter for INS"> ##FILTER=<ID=COV_CHANGE_FRAC_US,Description="Coverage fractional change filter: upstream-start"> ##FILTER=<ID=COV_CHANGE_FRAC_SC,Description="Coverage fractional change filter: start-center"> ##FILTER=<ID=COV_CHANGE_FRAC_CE,Description="Coverage fractional change filter: center-end"> ##FILTER=<ID=COV_CHANGE_FRAC_ED,Description="Coverage fractional change filter: end-downstream"> -##FILTER=<ID=MOSAIC_AF,Description="Mosaic variant allele frequency filter"> -##FILTER=<ID=NOT_MOSAIC_AF,Description="Variant allele frequency filter for non-mosaic"> +##FILTER=<ID=MOSAIC_VAF,Description="Mosaic variant allele fraction filter"> +##FILTER=<ID=NOT_MOSAIC_VAF,Description="Variant allele fraction filter for non-mosaic"> ##FILTER=<ID=ALN_NM,Description="Length adjusted mismatch filter"> ##FILTER=<ID=STRAND_BND,Description="Strand support filter for BNDs"> ##FILTER=<ID=STRAND,Description="Strand support filter for germline SVs"> @@ -138,8 +139,8 @@ ##INFO=<ID=SUPP_VEC,Number=1,Type=String,Description="List of read support for all samples"> ##INFO=<ID=CONSENSUS_SUPPORT,Number=1,Type=Integer,Description="Number of reads that support the generated insertion (INS) consensus sequence"> ##INFO=<ID=RNAMES,Number=.,Type=String,Description="Names of supporting reads (if enabled with --output-rnames)"> -##INFO=<ID=AF,Number=1,Type=Float,Description="Allele Frequency"> +##INFO=<ID=VAF,Number=1,Type=Float,Description="Variant Allele Fraction"> ##INFO=<ID=NM,Number=.,Type=Float,Description="Mean number of query alignment length adjusted mismatches of supporting reads"> ##INFO=<ID=PHASE,Number=.,Type=String,Description="Phasing information derived from supporting reads, represented as list of: HAPLOTYPE,PHASESET,HAPLOTYPE_SUPPORT,PHASESET_SUPPORT,HAPLOTYPE_FILTER,PHASESET_FILTER"> #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT SAMPLE -21 21492142 Sniffles2.DEL.0S14 N <DEL> 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 +21 21492142 Sniffles2.DEL.0S14 N <DEL> 52 PASS PRECISE;SVTYPE=DEL;SVLEN=-506;END=21492647;SUPPORT=48;COVERAGE=46,43,43,43,48;STRAND=+-;STDEV_LEN=0.509;STDEV_POS=1.404;VAF=0.527 GT:GQ:DR:DV 0/1:60:43:48
--- a/test-data/expected_output.vcf Sun Sep 29 10:23:36 2024 +0000 +++ b/test-data/expected_output.vcf Thu Nov 14 07:25:22 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/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" +##source=Sniffles2_2.5 +##command="/home/ross/miniconda3/envs/__sniffles@2.5.2/bin/sniffles -t 1 -i input.bam -v /tmp/tmpqwecq14c/job_working_directory/000/2/outputs/dataset_f00803e7-8823-4f78-8533-432f90cf6d14.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="2024/11/13 10:02:22" ##contig=<ID=1,length=249250621> ##contig=<ID=2,length=243199373> ##contig=<ID=3,length=198022430> @@ -106,14 +106,15 @@ ##FILTER=<ID=STDEV_LEN,Description="SV length standard deviation filter"> ##FILTER=<ID=COV_MIN,Description="Minimum coverage filter"> ##FILTER=<ID=COV_MIN_GT,Description="Minimum coverage filter (missing genotype)"> -##FILTER=<ID=COV_CHANGE,Description="Coverage change filter"> +##FILTER=<ID=COV_CHANGE_DEL,Description="Coverage change filter for DEL"> +##FILTER=<ID=COV_CHANGE_DUP,Description="Coverage change filter for DUP"> ##FILTER=<ID=COV_CHANGE_INS,Description="Coverage change filter for INS"> ##FILTER=<ID=COV_CHANGE_FRAC_US,Description="Coverage fractional change filter: upstream-start"> ##FILTER=<ID=COV_CHANGE_FRAC_SC,Description="Coverage fractional change filter: start-center"> ##FILTER=<ID=COV_CHANGE_FRAC_CE,Description="Coverage fractional change filter: center-end"> ##FILTER=<ID=COV_CHANGE_FRAC_ED,Description="Coverage fractional change filter: end-downstream"> -##FILTER=<ID=MOSAIC_AF,Description="Mosaic variant allele frequency filter"> -##FILTER=<ID=NOT_MOSAIC_AF,Description="Variant allele frequency filter for non-mosaic"> +##FILTER=<ID=MOSAIC_VAF,Description="Mosaic variant allele fraction filter"> +##FILTER=<ID=NOT_MOSAIC_VAF,Description="Variant allele fraction filter for non-mosaic"> ##FILTER=<ID=ALN_NM,Description="Length adjusted mismatch filter"> ##FILTER=<ID=STRAND_BND,Description="Strand support filter for BNDs"> ##FILTER=<ID=STRAND,Description="Strand support filter for germline SVs"> @@ -138,8 +139,8 @@ ##INFO=<ID=SUPP_VEC,Number=1,Type=String,Description="List of read support for all samples"> ##INFO=<ID=CONSENSUS_SUPPORT,Number=1,Type=Integer,Description="Number of reads that support the generated insertion (INS) consensus sequence"> ##INFO=<ID=RNAMES,Number=.,Type=String,Description="Names of supporting reads (if enabled with --output-rnames)"> -##INFO=<ID=AF,Number=1,Type=Float,Description="Allele Frequency"> +##INFO=<ID=VAF,Number=1,Type=Float,Description="Variant Allele Fraction"> ##INFO=<ID=NM,Number=.,Type=Float,Description="Mean number of query alignment length adjusted mismatches of supporting reads"> ##INFO=<ID=PHASE,Number=.,Type=String,Description="Phasing information derived from supporting reads, represented as list of: HAPLOTYPE,PHASESET,HAPLOTYPE_SUPPORT,PHASESET_SUPPORT,HAPLOTYPE_FILTER,PHASESET_FILTER"> #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT SAMPLE -21 21492142 Sniffles2.DEL.0S14 N <DEL> 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 +21 21492142 Sniffles2.DEL.0S14 N <DEL> 52 PASS PRECISE;SVTYPE=DEL;SVLEN=-506;END=21492647;SUPPORT=48;COVERAGE=46,43,43,43,48;STRAND=+-;STDEV_LEN=0.509;STDEV_POS=1.404;VAF=0.527 GT:GQ:DR:DV 0/1:60:43:48
--- a/test-data/expected_output2.vcf Sun Sep 29 10:23:36 2024 +0000 +++ b/test-data/expected_output2.vcf Thu Nov 14 07:25:22 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/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" +##source=Sniffles2_2.5 +##command="/home/ross/miniconda3/envs/__sniffles@2.5.2/bin/sniffles -t 1 -i input.bam -v /tmp/tmpqwecq14c/job_working_directory/000/4/outputs/dataset_d0a9862a-7719-41bc-a0d6-509dc816a92b.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="2024/11/13 10:03:01" ##contig=<ID=1,length=249250621> ##contig=<ID=2,length=243199373> ##contig=<ID=3,length=198022430> @@ -106,14 +106,15 @@ ##FILTER=<ID=STDEV_LEN,Description="SV length standard deviation filter"> ##FILTER=<ID=COV_MIN,Description="Minimum coverage filter"> ##FILTER=<ID=COV_MIN_GT,Description="Minimum coverage filter (missing genotype)"> -##FILTER=<ID=COV_CHANGE,Description="Coverage change filter"> +##FILTER=<ID=COV_CHANGE_DEL,Description="Coverage change filter for DEL"> +##FILTER=<ID=COV_CHANGE_DUP,Description="Coverage change filter for DUP"> ##FILTER=<ID=COV_CHANGE_INS,Description="Coverage change filter for INS"> ##FILTER=<ID=COV_CHANGE_FRAC_US,Description="Coverage fractional change filter: upstream-start"> ##FILTER=<ID=COV_CHANGE_FRAC_SC,Description="Coverage fractional change filter: start-center"> ##FILTER=<ID=COV_CHANGE_FRAC_CE,Description="Coverage fractional change filter: center-end"> ##FILTER=<ID=COV_CHANGE_FRAC_ED,Description="Coverage fractional change filter: end-downstream"> -##FILTER=<ID=MOSAIC_AF,Description="Mosaic variant allele frequency filter"> -##FILTER=<ID=NOT_MOSAIC_AF,Description="Variant allele frequency filter for non-mosaic"> +##FILTER=<ID=MOSAIC_VAF,Description="Mosaic variant allele fraction filter"> +##FILTER=<ID=NOT_MOSAIC_VAF,Description="Variant allele fraction filter for non-mosaic"> ##FILTER=<ID=ALN_NM,Description="Length adjusted mismatch filter"> ##FILTER=<ID=STRAND_BND,Description="Strand support filter for BNDs"> ##FILTER=<ID=STRAND,Description="Strand support filter for germline SVs"> @@ -138,8 +139,8 @@ ##INFO=<ID=SUPP_VEC,Number=1,Type=String,Description="List of read support for all samples"> ##INFO=<ID=CONSENSUS_SUPPORT,Number=1,Type=Integer,Description="Number of reads that support the generated insertion (INS) consensus sequence"> ##INFO=<ID=RNAMES,Number=.,Type=String,Description="Names of supporting reads (if enabled with --output-rnames)"> -##INFO=<ID=AF,Number=1,Type=Float,Description="Allele Frequency"> +##INFO=<ID=VAF,Number=1,Type=Float,Description="Variant Allele Fraction"> ##INFO=<ID=NM,Number=.,Type=Float,Description="Mean number of query alignment length adjusted mismatches of supporting reads"> ##INFO=<ID=PHASE,Number=.,Type=String,Description="Phasing information derived from supporting reads, represented as list of: HAPLOTYPE,PHASESET,HAPLOTYPE_SUPPORT,PHASESET_SUPPORT,HAPLOTYPE_FILTER,PHASESET_FILTER"> #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT SAMPLE -21 21492142 Sniffles2.DEL.0S14 N <DEL> 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 +21 21492142 Sniffles2.DEL.0S14 N <DEL> 52 PASS PRECISE;SVTYPE=DEL;SVLEN=-506;END=21492647;SUPPORT=48;COVERAGE=46,43,43,43,48;STRAND=+-;STDEV_LEN=0.509;STDEV_POS=1.404;VAF=0.527 GT:GQ:DR:DV 0/1:60:43:48