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Disparity between bench, phab and ga4gh query vcfs?
A variant shows up in the original fp.vcf.gz, and shows up in phab.output.vcf.gz, but does not show up in phab_bench/tp-comp.vcf.gz or phab_bench/fp.vcf.gz. This variant then does not show up at all in the ga4gh output when using the --with-refine flag.
Truvari v4.2.2.
Commands used (file names simplified)
truvari bench -b truth.vcf.gz -c dysgu.vcf.gz -o dysgu --pctseq 0 --typeignore --passonly --includebed truthbed.bed
truvari refine --threads 4 -R -U -f reference.fasta --align wfa --regions dysgu/candidate.refine.bed dysgu
truvari ga4gh -i dysgu -w -o ga4gh-dysgu
The variant in fp.vcf.gz:
chrX 18868815 498284 C <INS> . PASS SVMETHOD=DYSGUv1.6.2;SVTYPE=INS;END=18868815;CHR2=chrX;GRP=498284;NGRP=1;CT=5to3;CIPOS95=0;CIEND95=0;SVLEN=385;CONTIGA=tgtttttgcccccggagtcttgctctgtcgcccaggctggagtgcggtggcgcCATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGTCTGCCCAGTAGCTGGGACTATAGGCGCCCACCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGATTGGG;LEFT_SVINSSEQ=tgtttttgcccccggagtcttgctctgtcgcccaggctggagtgcggtggcgc;KIND=extra-regional;GC=57.84;NEXP=0;STRIDE=0;EXPSEQ;RPOLY=14;OL=0;SU=13;WR=0;PE=0;SR=0;SC=13;BND=13;LPREC=0;RT=pe;PctSeqSimilarity=0;PctSizeSimilarity=0.3247;PctRecOverlap=0.3247;SizeDiff=-260;StartDistance=-1;EndDistance=-1;GTMatch=0;TruScore=21;MatchId=10211.0,10211.0 GT:GQ:MAPQP:SU:WR:PE:SR:SC:BND:COV:NEIGH10:PS:MS:RMS:RED:BCC:FCC:ICN:OCN:PROB 1/1:91:40.62:13:0:0:0:13:13:29.54:3:7:6:0:0:24:1.192:0.963:1.148:0.614
The variant(s) in phab.output.vcf.gz:
chrX 18868814 . A AAATTCTCTTCTGATTTCTGTTGGTTTATTATTTTGCTGTTTTTTTCCCTAATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCGGTGGCGC . . . GT 1/1 0/0
chrX 18868815 . C <INS> . . . GT 0/0 1/1
The region is also in the candidate bed file chrX 18868803 18868825
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chrX 18868814 is the "expected" position for this variant, and logic tells me that the refined version would be classifying this as a TP. But I can't find it in ga4gh at all. The variant in the GIAB HG002 truth set is:
chrX 18868814 HG3_PB_assemblyticsfalcon_28664 A AAATTCTCTTCTGATTTCTGTTGGTTTATTATTTTGCTGTTTTTTTCCCTAATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCGGTGGCGC 20 PASS BREAKSIMLENGTH=0;CGcalls=0;CGexactcalls=0;ClusterIDs=HG2_PB_pbsv_20069:HG2_PB_HySA_36018:HG4_PB_pbsv_20008:HG4_PB_HySA_28613:HG2_PB_SVrefine2Falcon2Bionano_9967:HG4_Ill_GATKHCSBGrefine_13354:HG3_PB_assemblyticsfalcon_28664:HG3_PB_SVrefine2Falcon1Dovetail_12497:HG2_PB_assemblyticsPBcR_27931:HG2_PB_SVrefine2PBcRplusDovetail_12040:HG2_PB_assemblyticsfalcon_28686:HG2_PB_SVrefine2Falcon1plusDovetail_12867:HG4_PB_assemblyticsfalcon_28135:HG4_PB_SVrefine2Falcon1Dovetail_12510:HG4_PB_SVrefine2PBcRDovetail_10079;ClusterMaxEditDist=0.200772;ClusterMaxShiftDist=0.0705882;ClusterMaxSizeDiff=0.054902;DistBack=11492;DistForward=-1;DistMin=-1;DistMinlt1000=TRUE;DistPASSHG2gt49Minlt1000=FALSE;DistPASSMinlt1000=FALSE;END=18868814;ExactMatchIDs=HG2_PB_SVrefine2PBcRplusDovetail_12040:HG2_PB_assemblyticsPBcR_27931:HG3_PB_SVrefine2Falcon1Dovetail_12497:HG3_PB_assemblyticsfalcon_28664:HG4_Ill_GATKHCSBGrefine_13354;HG003_GT=0/0;HG004_GT=1/1;HG2count=7;HG3count=2;HG4count=6;Illcalls=1;Illexactcalls=1;MendelianError=TRUE;MultiTech=TRUE;MultiTechExact=TRUE;NumClusterSVs=15;NumExactMatchSVs=5;NumTechs=2;NumTechsExact=2;PBcalls=14;PBexactcalls=4;REFWIDENED=X:18886933-18886932;REPTYPE=SIMPLEINS;SVLEN=125;SVTYPE=INS;TRall=FALSE;TRgt100=FALSE;TRgt10k=FALSE;TenXcalls=0;TenXexactcalls=0;segdup=FALSE;sizecat=100to299 GT:GTcons1:PB_GT:PB_REF:PB_ALT:PBHP_GT:PB_REF_HP1:PB_ALT_HP1:PB_REF_HP2:PB_ALT_HP2:TenX_GT:TenX_REF_HP1:TenX_ALT_HP1:TenX_REF_HP2:TenX_ALT_HP2:ILL250bp_GT:ILL250bp_REF:ILL250bp_ALT:ILLMP_GT:ILLMP_REF:ILLMP_ALT:BNG_LEN_DEL:BNG_LEN_INS:nabsys_svm 1/1:1/1:1/1:0:35:./.:0:0:0:0:./.:0:0:0:0:1/1:0:12:./.:.:.:.:.:.
My understanding of the behaviour is that since this variant is being harmonized, it should be making it to either the phab_bench/tp-comp.vcf.gz or the phab_bench/fp.vcf.gz files and into ga4gh's query vcf, so I am confused why this is not the case.