From a2dd716a67d60533534269faef8e87e30496bce0 Mon Sep 17 00:00:00 2001 From: Ross Lazarus Date: Thu, 14 Nov 2024 18:16:24 +1100 Subject: [PATCH] update sniffles to new 2.5.2 release (#6557) * update sniffles to new 2.5.2 release * Update tools/sniffles/sniffles.xml Co-authored-by: M Bernt --------- Co-authored-by: M Bernt --- tools/sniffles/sniffles.xml | 4 ++-- tools/sniffles/test-data/expected_outcome3.vcf | 17 +++++++++-------- tools/sniffles/test-data/expected_outcome4.vcf | 17 +++++++++-------- tools/sniffles/test-data/expected_outcome5.vcf | 15 ++++++++------- tools/sniffles/test-data/expected_outcome6.vcf | 17 +++++++++-------- tools/sniffles/test-data/expected_output.vcf | 17 +++++++++-------- tools/sniffles/test-data/expected_output2.vcf | 17 +++++++++-------- 7 files changed, 55 insertions(+), 49 deletions(-) diff --git a/tools/sniffles/sniffles.xml b/tools/sniffles/sniffles.xml index ba538bca70e..3046f6b686a 100644 --- a/tools/sniffles/sniffles.xml +++ b/tools/sniffles/sniffles.xml @@ -1,7 +1,7 @@ - + Structural variation caller using third generation sequencing - 2.4 + 2.5.2 sniffles diff --git a/tools/sniffles/test-data/expected_outcome3.vcf b/tools/sniffles/test-data/expected_outcome3.vcf index 7e025bfc75a..089184fc5d7 100644 --- a/tools/sniffles/test-data/expected_outcome3.vcf +++ b/tools/sniffles/test-data/expected_outcome3.vcf @@ -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= ##contig= ##contig= @@ -106,14 +106,15 @@ ##FILTER= ##FILTER= ##FILTER= -##FILTER= +##FILTER= +##FILTER= ##FILTER= ##FILTER= ##FILTER= ##FILTER= ##FILTER= -##FILTER= -##FILTER= +##FILTER= +##FILTER= ##FILTER= ##FILTER= ##FILTER= @@ -138,8 +139,8 @@ ##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 +21 21492142 Sniffles2.DEL.0S14 N 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 diff --git a/tools/sniffles/test-data/expected_outcome4.vcf b/tools/sniffles/test-data/expected_outcome4.vcf index fd2cc1d8cc7..146ad613dcd 100644 --- a/tools/sniffles/test-data/expected_outcome4.vcf +++ b/tools/sniffles/test-data/expected_outcome4.vcf @@ -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= ##contig= ##contig= @@ -106,14 +106,15 @@ ##FILTER= ##FILTER= ##FILTER= -##FILTER= +##FILTER= +##FILTER= ##FILTER= ##FILTER= ##FILTER= ##FILTER= ##FILTER= -##FILTER= -##FILTER= +##FILTER= +##FILTER= ##FILTER= ##FILTER= ##FILTER= @@ -138,8 +139,8 @@ ##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 +21 21492142 Sniffles2.DEL.1S14 N 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 diff --git a/tools/sniffles/test-data/expected_outcome5.vcf b/tools/sniffles/test-data/expected_outcome5.vcf index cd2c7e50003..ce3a4d6a100 100644 --- a/tools/sniffles/test-data/expected_outcome5.vcf +++ b/tools/sniffles/test-data/expected_outcome5.vcf @@ -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= ##contig= ##contig= @@ -106,14 +106,15 @@ ##FILTER= ##FILTER= ##FILTER= -##FILTER= +##FILTER= +##FILTER= ##FILTER= ##FILTER= ##FILTER= ##FILTER= ##FILTER= -##FILTER= -##FILTER= +##FILTER= +##FILTER= ##FILTER= ##FILTER= ##FILTER= @@ -138,7 +139,7 @@ ##INFO= ##INFO= ##INFO= -##INFO= +##INFO= ##INFO= ##INFO= #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT SAMPLE diff --git a/tools/sniffles/test-data/expected_outcome6.vcf b/tools/sniffles/test-data/expected_outcome6.vcf index f30fa668b4e..c3bef9e38bd 100644 --- a/tools/sniffles/test-data/expected_outcome6.vcf +++ b/tools/sniffles/test-data/expected_outcome6.vcf @@ -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= ##contig= ##contig= @@ -106,14 +106,15 @@ ##FILTER= ##FILTER= ##FILTER= -##FILTER= +##FILTER= +##FILTER= ##FILTER= ##FILTER= ##FILTER= ##FILTER= ##FILTER= -##FILTER= -##FILTER= +##FILTER= +##FILTER= ##FILTER= ##FILTER= ##FILTER= @@ -138,8 +139,8 @@ ##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 +21 21492142 Sniffles2.DEL.0S14 N 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 diff --git a/tools/sniffles/test-data/expected_output.vcf b/tools/sniffles/test-data/expected_output.vcf index 4248228b629..53a02d6022e 100644 --- a/tools/sniffles/test-data/expected_output.vcf +++ b/tools/sniffles/test-data/expected_output.vcf @@ -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= ##contig= ##contig= @@ -106,14 +106,15 @@ ##FILTER= ##FILTER= ##FILTER= -##FILTER= +##FILTER= +##FILTER= ##FILTER= ##FILTER= ##FILTER= ##FILTER= ##FILTER= -##FILTER= -##FILTER= +##FILTER= +##FILTER= ##FILTER= ##FILTER= ##FILTER= @@ -138,8 +139,8 @@ ##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 +21 21492142 Sniffles2.DEL.0S14 N 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 diff --git a/tools/sniffles/test-data/expected_output2.vcf b/tools/sniffles/test-data/expected_output2.vcf index 912799f5f9d..2088e705f6c 100644 --- a/tools/sniffles/test-data/expected_output2.vcf +++ b/tools/sniffles/test-data/expected_output2.vcf @@ -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= ##contig= ##contig= @@ -106,14 +106,15 @@ ##FILTER= ##FILTER= ##FILTER= -##FILTER= +##FILTER= +##FILTER= ##FILTER= ##FILTER= ##FILTER= ##FILTER= ##FILTER= -##FILTER= -##FILTER= +##FILTER= +##FILTER= ##FILTER= ##FILTER= ##FILTER= @@ -138,8 +139,8 @@ ##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 +21 21492142 Sniffles2.DEL.0S14 N 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