Somatic Mutation Results on Seven Bridges Genomics
Data and jobs on Seven Bridge Genomics
somaticCaller code:
MuTect2 (M), SomaticSniper (S), VarDict (D), MuSE (U), Strelka (K), TNscope (T)
VarDict seems to have problem with SOAP-generated BAM files. A miniTest has 8 simultaneous thread on a pair of mini BAM for over an hour, and none has finished.
Somatic Mutation Output from 21 WGS Replicates (63 pair of BAM files)
IL_T_1 vs. IL_N_1:
BWA
CallableLoci complete: gatk callableloci job ($1.43)
MuTect2 complete: mutect2-workflow job ($5.81) and mutect2 vcf file.
SomaticSniper complete: somaticsniper job ($1.68) and somaticsniper vcf file.
VarDict complete: vardict-workflow job ($4.17). Needed to sort the vcf file. This is the sorted vardict vcf file.
MuSE complete: parallel-muse-workflow job ($5.60) and muse vcf file.
Strelka complete: parallel-strelka-workflow job ($1.89). Needed to sort the two vcf files: snv and indel. These are the sorted strelka snv and indel vcf files.
SomaticSeq complete (fallback mode, no machine learning): single threaded somaticseq job ($3.99)
Output files copied to SNV project:
Novoalign
CallableLoci complete: gatk callableloci job ($1.40)
MuTect2 complete: parallel-mutect2-workflow job ($7.44) and mutect2 vcf file.
SomaticSniper complete: somaticsniper job ($1.63) and somaticsniper vcf file.
VarDict complete: parallel-vardict-workflow job ($4.21) and vardict vcf file.
MuSE complete: parallel-muse-workflow job ($5.59) and muse vcf file.
Strelka complete: parallel-strelka-workflow job ($1.78) and strelka's snv and indel vcf file
SomaticSeq complete (fallback mode, no machine learning): single-threaded somaticseq job ($3.24)
Output files copied to SNV project:
Bowtie2
CallableLoci complete: gatk callableloci job ($1.42)
somaticCallers-MSDUK (MuTect2/SomaticSniper/VarDict/MuSE/Strelka) complete: somaticCallers-MSDUK job ($21.07)
SomaticSeq job (consensus mode, no machine learning) complete: workflow job
Output files copied to SNV project:
SOAP
CallableLoci complete: gatk callableloci job ($1.44)
somaticCallers-MSUK (MuTect2/SomaticSniper/MuSE/Strelka) complete: somaticCallers-MSUK job
job output: mutect2 vcf file, somaticsniper vcf file (lost the header), muse vcf file, strelka snv vcf file, strelka indel vcf file
Output files copied to SNV project:
IL_T_2 vs. IL_N_2:
BWA
CallableLoci job complete: https://cgc.sbgenomics.com/u/xiaowen/fda-seqc2-wg-1/tasks/12f6e58a-15a8-4a67-8c3e-93ac41b87917/
parallel-somaticseq-workflow-MSDUK complete: workflow job
parallel-scalpel-workflow submitted: https://cgc.sbgenomics.com/u/xiaowen/fda-seqc2-wg-1/tasks/ce14b693-f4bf-4bd8-946a-d9ce86f6998d
Output files copied to SNV projects:
Novoalign
parallel-somaticseq-workflow-MSDUK complete: workflow job
Output files copied to SNV project:
Bowtie2
parallel-somaticseq-workflow-MSDUK complete: workflow job
Output files copied to SNV project:
IL_T_3 vs. IL_N_3
CallableLoci: https://cgc.sbgenomics.com/u/xiaowen/fda-seqc2-wg-1/tasks/0da47426-9aeb-466b-a426-71f7c7ef266b
BWA
parallel-somaticseq-workflow complete: workflow job
Output files copied to SNV project:
Novoalign
parallel-somaticseq-workflow complete: workflow job
Output files copied to SNV project:
Bowtie:
parallel-somaticseq-workflow complete: workflow job
Output files copied to SNV project:
NS_T_1 vs. NS_N_1:
BWA
CallableLoci for each aligner complete: callableloci_4x job
parallel-somaticseq-workflow-MSDUK complete: workflow job
Output files copied to SNV project:
Novoalign
parallel-somaticseq-workflow-MSDUK submitted: workflow job
Output files copied to SNV project:
Bowtie2
parallel-somaticseq-workflow-MSDUK complete: workflow job
Output files copied to SNV project:
NS_T_2 vs. NS_N_2:
BWA
CallableLoci for each aligner submitted: callableloci_4x job
parallel-somaticseq-workflow-MSDUK:
This is a failed job due to VarDict spitting out non-GCGAN character in VCF file.
Resubmitted with SomaticSeq v2.7.0 complete: workflow job
Output files copied to SNV project:
Novoalign
parallel-somaticseq-workflow-MSDUK complete: workflow job
Output files copied to SNV project:
Bowtie2
parallel-somaticseq-workflow-MSDUK complete: workflow job
Output files copied to SNV project:
NS_T_3 vs. NS_N_3:
BWA
CallableLoci for each aligner complete: callableloci_4x job
parallel-somaticseq-workflow-MSDUK complete: workflow job
Output files copied to SNV project:
Novoalign
parallel-somaticseq-workflow-MSDUK complete: workflow job
Output files copied to SNV project:
Bowtie2:
parallel-somaticseq-workflow-MSDUK complete: workflow job
Output files copied to SNV project:
NS_T_4 vs. NS_N_4
CallableLoci: https://cgc.sbgenomics.com/u/xiaowen/fda-seqc2-wg-1/tasks/18c68d84-c9d4-4770-95e0-f0c7458cd49b
BWA
parallel-somaticseq-workflow complete: workflow job
Output files copied to SNV project:
Novoalign
parallel-somaticseq-workflow complete: workflow job
Output files copied to SNV project:
Bowtie
parallel-somaticseq-workflow complete: workflow job
Output files copied to SNV project:
NS_T_5 vs. NS_N_5
CallableLoci: https://cgc.sbgenomics.com/u/xiaowen/fda-seqc2-wg-1/tasks/b6bf96f8-e7d5-4adb-bce7-00b7272c9124
BWA
parallel-somaticseq-workflow complete: workflow job
Output files copied to SNV project:
Novoalign
parallel-somaticseq-workflow complete: workflow job
Output files copied to SNV project:
Bowtie
parallel-somaticseq-workflow complete: workflow job
Output files copied to SNV project:
NS_T_6 vs. NS_N_6
CallableLoci: https://cgc.sbgenomics.com/u/xiaowen/fda-seqc2-wg-1/tasks/1df91346-82fd-4e70-bf3d-f2a2f9c4b111
BWA
parallel-somaticseq-workflow complete: workflow job
Output files copied to SNV project:
Novoalign
parallel-somaticseq-workflow complete: workflow job (changed one file name)
Output files copied to SNV project:
Bowtie
parallel-somaticseq-workflow complete: workflow job
Output files copied to SNV project:
NS_T_7 vs. NS_N_7
CallableLoci: https://cgc.sbgenomics.com/u/xiaowen/fda-seqc2-wg-1/tasks/75e89540-8c8a-45ad-ba83-eb5ef23f2f9b
BWA
parallel-somaticseq-workflow complete: workflow job
Output files copied to SNV project:
Novoalign
parallel-somaticseq-workflow complete: workflow job
Output files copied to SNV project:
Bowtie
parallel-somaticseq-workflow complete: workflow job
Output files copied to SNV project:
NS_T_8 vs. NS_N_8
CallableLoci: https://cgc.sbgenomics.com/u/xiaowen/fda-seqc2-wg-1/tasks/ee0d769c-f9e1-4af7-aba7-d4eab7215d3c
BWA
parallel-somaticseq-workflow complete: workflow job (changed one file name)
Output files copied to SNV project:
Novoalign
parallel-somaticseq-workflow complete: workflow job
Output files copied to SNV project:
Bowtie
parallel-somaticseq-workflow complete: workflow job
Output files copied to SNV project:
NS_T_9 vs. NS_N_9
CallableLoci: https://cgc.sbgenomics.com/u/xiaowen/fda-seqc2-wg-1/tasks/015f1899-b583-4e16-bcaf-6703a2da938c
BWA
parallel-somaticseq-workflow complete: workflow job
Output files copied to SNV project:
Novoalign:
parallel-somaticseq-workflow complete: workflow job
Output files copied to SNV project:
Bowtie
parallel-somaticseq-workflow complete: workflow job
Output files copied to SNV project:
NV_T_1 vs. NV_N_1
BWA
parallel-somaticseq-workflow complete: workflow job
Output files copied to SNV project:
Novoalign
parallel-somaticseq-workflow complete: workflow job
Output files copied to SNV project:
Bowtie
parallel-somaticseq-workflow complete: workflow job
Output files copied to SNV project:
MuTect2, SomaticSniper, VarDict, MuSE, Strelka SNV, Strelka INDEL, SomaticSeq SNV TSV, SomaticSeq INDEL TSV, SomaticSeq Consensus SNV VCF, SomaticSeq Consensus INDEL VCF
NV_T_2 vs. NV_N_2
BWA
parallel-somaticseq-workflow complete: workflow job
Output files copied to SNV project:
MuTect2, SomaticSniper, VarDict, MuSE, Strelka SNV, Strelka INDEL, SomaticSeq SNV TSV, SomaticSeq INDEL TSV, SomaticSeq Consensus SNV VCF, SomaticSeq Consensus INDEL VCF
Novoalign
parallel-somaticseq-workflow complete: workflow job
Output files copied to SNV project:
MuTect2, SomaticSniper, VarDict, MuSE, Strelka SNV, Strelka INDEL, SomaticSeq SNV TSV, SomaticSeq INDEL TSV, SomaticSeq Consensus SNV VCF, SomaticSeq Consensus INDEL VCF
Bowtie
parallel-somaticseq-workflow complete: workflow job
Output files copied to SNV project:
MuTect2, SomaticSniper, VarDict, MuSE, Strelka SNV, Strelka INDEL, SomaticSeq SNV TSV, SomaticSeq INDEL TSV, SomaticSeq Consensus SNV VCF, SomaticSeq Consensus INDEL VCF
NV_T_3 vs. NV_N_3
BWA
parallel-somaticseq-workflow complete: workflow job
Output files copied to SNV project:
MuTect2, SomaticSniper, VarDict, MuSE, Strelka SNV, Strelka INDEL, SomaticSeq SNV TSV, SomaticSeq INDEL TSV, SomaticSeq Consensus SNV VCF, SomaticSeq Consensus INDEL VCF
Novoalign
parallel-somaticseq-workflow complete: workflow job
Output files copied to SNV project:
MuTect2, SomaticSniper, VarDict, MuSE, Strelka SNV, Strelka INDEL, SomaticSeq SNV TSV, SomaticSeq INDEL TSV, SomaticSeq Consensus SNV VCF, SomaticSeq Consensus INDEL VCF
Bowtie2
parallel-somaticseq-workflow complete: workflow job
Output files copied to SNV project:
MuTect2, SomaticSniper, VarDict, MuSE, Strelka SNV, Strelka INDEL, SomaticSeq SNV TSV, SomaticSeq INDEL TSV, SomaticSeq Consensus SNV VCF, SomaticSeq Consensus INDEL VCF
FD_T_1 vs. FD_N_1
BWA
parallel-somaticseq-workflow complete: workflow job
Output files copied to SNV project:
MuTect2, SomaticSniper, VarDict, MuSE, Strelka SNV, Strelka INDEL, SomaticSeq SNV TSV, SomaticSeq INDEL TSV, SomaticSeq Consensus SNV VCF, SomaticSeq Consensus INDEL VCF
An demonstration of SomaticSeq.Wrapper.sh with TNscope:
https://cgc.sbgenomics.com/u/xiaowen/fda-seqc2-wg-1/tasks/de34947e-6b6c-4796-8546-d7d2c71259ee/#
Novoalign
parallel-somaticseq-workflow complete: workflow job
Output files copied to SNV project:
MuTect2, SomaticSniper, VarDict, MuSE, Strelka SNV, Strelka INDEL, SomaticSeq SNV TSV, SomaticSeq INDEL TSV, SomaticSeq Consensus SNV VCF, SomaticSeq Consensus INDEL VCF
Bowtie2
parallel-somaticseq-workflow complete: workflow job
Output files copied to SNV project:
MuTect2, SomaticSniper, VarDict, MuSE, Strelka SNV, Strelka INDEL, SomaticSeq SNV TSV, SomaticSeq INDEL TSV, SomaticSeq Consensus SNV VCF, SomaticSeq Consensus INDEL VCF
FD_T_2 vs. FD_N_2
BWA
parallel-somaticseq-workflow complete: workflow job
Output files copied to SNV project:
MuTect2, SomaticSniper, VarDict, MuSE, Strelka SNV, Strelka INDEL, SomaticSeq SNV TSV, SomaticSeq INDEL TSV, SomaticSeq Consensus SNV VCF, SomaticSeq Consensus INDEL VCF
Novoalign
parallel-somaticseq-workflow complete: workflow job
Output files copied to SNV project:
MuTect2, SomaticSniper, VarDict, MuSE, Strelka SNV, Strelka INDEL, SomaticSeq SNV TSV, SomaticSeq INDEL TSV, SomaticSeq Consensus SNV VCF, SomaticSeq Consensus INDEL VCF
Bowtie2
parallel-somaticseq-workflow complete: workflow job
Output files copied to SNV project:
MuTect2, SomaticSniper, VarDict, MuSE, Strelka SNV, Strelka INDEL, SomaticSeq SNV TSV, SomaticSeq INDEL TSV, SomaticSeq Consensus SNV VCF, SomaticSeq Consensus INDEL VCF
FD_T_3 vs. FD_N_3
BWA
parallel-somaticseq-workflow complete: workflow job
Output files copied to SNV project:
MuTect2, SomaticSniper, VarDict, MuSE, Strelka SNV, Strelka INDEL, SomaticSeq SNV TSV, SomaticSeq INDEL TSV, SomaticSeq Consensus SNV VCF, SomaticSeq Consensus INDEL VCF
Novoalign
parallel-somaticseq-workflow complete: workflow job
Output files copied to SNV project:
MuTect2, SomaticSniper, VarDict, MuSE, Strelka SNV, Strelka INDEL, SomaticSeq SNV TSV, SomaticSeq INDEL TSV, SomaticSeq Consensus SNV VCF, SomaticSeq Consensus INDEL VCF
Bowtie2
parallel-somaticseq-workflow complete: workflow job
Output files copied to SNV project:
MuTect2, SomaticSniper, VarDict, MuSE, Strelka SNV, Strelka INDEL, SomaticSeq SNV TSV, SomaticSeq INDEL TSV, SomaticSeq Consensus SNV VCF, SomaticSeq Consensus INDEL VCF
EA_T_1 vs EA_N_1:
BWA
CallableLoci for each aligner complete: callableloci_4x job
somaticCallers-MSDUK complete: workflow job ($19.58)
SomaticSeq complete: workflow job
Output files copied to SNV project:
CallableLoci, Callable Summary, MuTect2, SomaticSniper, VarDict, MuSE, Strelka SNV, Strelka INDEL, SomaticSeq SNV TSV, SomaticSeq INDEL TSV, SomaticSeq Consensus SNV VCF, SomaticSeq Consensus INDEL VCF
Novoalign
somaticCallers-MSDUK complete: workflow job ($21.37)
SomaticSeq complete: workflow job
Output files copied to SNV project:
CallableLoci, Callable Summary, MuTect2, SomaticSniper, VarDict, MuSE, Strelka SNV, Strelka INDEL, SomaticSeq SNV TSV, SomaticSeq INDEL TSV, SomaticSeq Consensus SNV VCF, SomaticSeq Consensus INDEL VCF
Bowtie2
somaticCallers-MSDUK complete: workflow job ($20.42)
SomaticSeq complete: somaticseq job
Output files copied to SNV project:
CallableLoci, Callable Summary, MuTect2, SomaticSniper, VarDict, MuSE, Strelka SNV, Strelka INDEL, SomaticSeq SNV TSV, SomaticSeq INDEL TSV, SomaticSeq Consensus SNV VCF, SomaticSeq Consensus INDEL VCF
SOAP
somaticCallers-MSUK complete: workflow job ($19.57)
Output files copied to SNV project:
CallableLoci, Callable Summary, MuTect2, SomaticSniper, VarDict, MuSE, Strelka SNV, Strelka INDEL, SomaticSeq SNV TSV, SomaticSeq INDEL TSV, SomaticSeq Consensus SNV VCF, SomaticSeq Consensus INDEL VCF
NC_T_1 vs NC_N_1
BWA
CallableLoci for each aligner submitted:
FAILED job. FAIL log indicate multiple SMs are present in the soap.bam's header.
Resubmit substitute the soap bam with bwa normal bam complete: callableloci_4x job
parallel-somaticseq-workflow-MSDUK complete: workflow job
Output files copied to SNV project:
Novoalign
parallel-somaticseq-workflow-MSDUK complete: workflow job
Output files copied to SNV project:
Bowtie2
parallel-somaticseq-workflow-MSDUK complete: workflow job
Output files copied to SNV project:
LL_T_1 vs. LL_N_1
BWA
parallel-somaticseq-workflow complete: workflow job
Output files copied to SNV project:
MuTect2, SomaticSniper, VarDict, MuSE, Strelka SNV, Strelka INDEL, SomaticSeq SNV TSV, SomaticSeq INDEL TSV, SomaticSeq Consensus SNV VCF, SomaticSeq Consensus INDEL VCF
Novoalign
parallel-somaticseq-workflow complete: workflow job
Output files copied to SNV project:
MuTect2, SomaticSniper, VarDict, MuSE, Strelka SNV, Strelka INDEL, SomaticSeq SNV TSV, SomaticSeq INDEL TSV, SomaticSeq Consensus SNV VCF, SomaticSeq Consensus INDEL VCF
Bowtie2
parallel-somaticseq-workflow complete: workflow job
Output files copied to SNV project:
MuTect2, SomaticSniper, VarDict, MuSE, Strelka SNV, Strelka INDEL, SomaticSeq SNV TSV, SomaticSeq INDEL TSV, SomaticSeq Consensus SNV VCF, SomaticSeq Consensus INDEL VCF
TNScope 201711.02:
IL: https://cgc.sbgenomics.com/u/xiaowen/fda-seqc2-wg-1/tasks/88b24541-3771-4052-b2e1-3ad2fef34ad3/
NS: https://cgc.sbgenomics.com/u/xiaowen/fda-seqc2-wg-1/tasks/f860d264-a608-473f-80f1-2aa8b15b8041/
FD: https://cgc.sbgenomics.com/u/xiaowen/fda-seqc2-wg-1/tasks/21e80e20-e0dd-4f7f-b55f-2900931416fd/
NV: https://cgc.sbgenomics.com/u/xiaowen/fda-seqc2-wg-1/tasks/d125f4b9-1398-4d15-ad5d-b7beec0eac4f/
LL/EA/NC: https://cgc.sbgenomics.com/u/xiaowen/fda-seqc2-wg-1/tasks/c60f1780-bba2-4000-aa3c-a3407cdd7597/
A few of those runs above produced truncated VCF files, so their results are incomplete.
The following 13 pairs were run as a batch job: Batch Job.
WGS.bwa.dedup-EA_T_1_vs_EA_N_1
WGS.novo.dedup-EA_T_1_vs_EA_N_1
WGS.novo.dedup-FD_T_3_vs_FD_N_3
WGS.bwa.dedup-NS_T_1_vs_NS_N_1
WGS.bwa.dedup-NS_T_4_vs_NS_N_4
WGS.bwa.dedup-NS_T_9_vs_NS_N_9
WGS.novo.dedup-IL_T_2_vs_IL_N_2
WGS.novo.dedup-IL_T_3_vs_IL_N_3
WGS.novo.dedup-NS_T_3_vs_NS_N_3
WGS.novo.dedup-NS_T_8_vs_NS_N_8
WGS.novo.dedup-NC_T_1_vs_NC_N_1
WGS.novo.dedup-NV_T_1_vs_NV_N_1
WGS.novo.dedup-NV_T_2_vs_NV_N_2
The two Deep Sequencing WGS Data
Combined nine NovaSeq replicates and use one single "sample name" (380X)
Somatic Mutation Calling Results
BWA
Somatic Mutation Calling
TNscope: TNscope 201711.02 - Combine 9 NovaSeq BWA (Rerun)
Bowtie
Somatic Mutation Calling
NovoAlign
Somatic Mutation Calling
Use the Genentech 300X SPP with single "sample name" (300X)
Somatic Mutation Calling Results
BWA
Bowtie
NovoAlign
In silico mutation spike-in using BamSurgeon pipeline
WGS_IL_N_1.bwa.dedup.bam
WGS_IL_N_2.bwa.dedup.bam
WGS_NS_N_1.bwa.dedup.bam
WGS_NS_N_2.bwa.dedup.bam
WGS_FD_N_2.bwa.dedup.bam
WGS_FD_N_3.bwa.dedup.bam
WGS_NV_N_2.bwa.dedup.bam
WGS_NV_N_3.bwa.dedup.bam
WGS_IL_N_1.bowtie.dedup.bam
WGS_IL_N_2.bowtie.dedup.bam
WGS_NS_N_1.bowtie.dedup.bam
WGS_NS_N_2.bowtie.dedup.bam
WGS_FD_N_2.bowtie.dedup.bam
WGS_FD_N_3.bowtie.dedup.bam
WGS_NV_N_2.bowtie.dedup.bam
WGS_NV_N_3.bowtie.dedup.bam
WGS_IL_N_1.novo.dedup.bam
WGS_IL_N_2.novo.dedup.bam
WGS_NS_N_1.novo.dedup.bam
WGS_NS_N_2.novo.dedup.bam
WGS_FD_N_2.novo.dedup.bam
WGS_FD_N_3.novo.dedup.bam
WGS_NV_N_2.novo.dedup.bam
WGS_NV_N_3.novo.dedup.bam
In silico spike in for the two Deep Sequencing Data Sets
NovaSeq
Combine replicates 1-4 as normal, and use combined 5-9 for spike in
TNscope results from this group should be renamed with file extension of .vcf.gz.
BWA
Bowtie
NovoAlign
Combine replicates 6-9 as normal, and use combined 1-5 for spike in
BWA
Bowtie
NovoAlign
Genentech 300X SPP
BWA
In silico tumor: Genentech.SPP.300X.bwa.bamSplit01.syntheticTumor.bam
In silico normal: Genentech.SPP.300X.bwa.bamSplit01.syntheticNormal.bam
ground truth snv: Genentech.SPP.300X.bwa.bamSplit01.synthetic_snvs.vcf
ground truth indel: Genentech.SPP.300X.bwa.bamSplit01.synthetic_indels.leftAlign.vcf
Bowtie
In silico tumor: Genentech.SPP.300X.bowtie.bamSplit01.syntheticTumor.bam
In silico normal: Genentech.SPP.300X.bowtie.bamSplit01.syntheticNormal.bam
ground truth snv: Genentech.SPP.300X.bowtie.bamSplit01.synthetic_snvs.vcf
ground truth indel: Genentech.SPP.300X.bowtie.bamSplit01.synthetic_indels.leftAlign.vcf
NovoAlign
In silico tumor: Genentech.SPP.300X.novo.bamSplit01.syntheticTumor.bam
In silico normal: Genentech.SPP.300X.novo.bamSplit01.syntheticNormal.bam
ground truth snv: Genentech.SPP.300X.novo.bamSplit01.synthetic_snvs.vcf
ground truth indel: Genentech.SPP.300X.novo.bamSplit01.synthetic_indels.leftAlign.vcf