Skip to content
New issue

Have a question about this project? Sign up for a free GitHub account to open an issue and contact its maintainers and the community.

By clicking “Sign up for GitHub”, you agree to our terms of service and privacy statement. We’ll occasionally send you account related emails.

Already on GitHub? Sign in to your account

Stochastic behaviour of GRIDSS #687

Open
gseryogin opened this issue Dec 13, 2024 · 5 comments
Open

Stochastic behaviour of GRIDSS #687

gseryogin opened this issue Dec 13, 2024 · 5 comments

Comments

@gseryogin
Copy link

gseryogin commented Dec 13, 2024

Hi!

GRIDSS clearly has non-deterministic behaviour:

  1. it produces different number of rows in vcf file ater each rerun on the same set of bam files (which means variant can be accidentially lost after rerun)
  2. it may assign different values to QUAL or VF for the same variant after rerun

Here is my example: I ran 6 times completely the same job (8cpu and 32gb) with gridss for the same set of bam files (1 normal samples + 2 tumor samples) and each time got different results for the event of interest:

chr10   32016769        gridss170bb_33o C       [chr10:43111683[C       514.58  SINGLE_ASSEMBLY ANRP=0;ANRPQ=0;ANSR=0;ANSRQ=0;AS=0;ASC=2X107M;ASQ=0;ASRP=0;ASSR=21;BA=0;BAQ=0;BASRP=0;BASSR=0;BEID=asm172-3974;BEIDH=108;BEIDL=0;BQ=0;BSC=0;BSCQ=0;BUM=0;BUMQ=0;BVF=0;CAS=0;CASQ=0;CIPOS=0,1;CIRPOS=-1,0;CQ=514.58;EVENT=gridss170bb_33;HOMLEN=1;HOMSEQ=C;IC=0;IHOMPOS=0,1;IQ=0;MATEID=gridss170bb_33h;MQ=60;MQN=60;MQX=60;RAS=1;RASQ=465.22;REF=26;REFPAIR=0;RP=0;RPQ=0;SB=0.521739;SC=2X107M;SR=2;SRQ=49.37;SVTYPE=BND;VF=15;SIMPLE_SVTYPE=INV;SIMPLE_SVLEN=11094913  GT:AF:ANRP:ANRPQ:ANSR:ANSRQ:ASQ:ASRP:ASSR:BAQ:BASRP:BASSR:BQ:BSC:BSCQ:BUM:BUMQ:BVF:CASQ:IC:IQ:QUAL:RASQ:REF:REFPAIR:RP:RPQ:SR:SRQ:VF        .:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:3:0:0:0:0:0:0 .:0.333:0:0:0:0:0:0:9:0:0:0:0:0:0:0:0:0:0:0:0:256.41:207.04:12:0:0:0:2:49.37:6  .:0.45:0:0:0:0:0:0:12:0:0:0:0:0:0:0:0:0:0:0:0:258.17:258.17:11:0:0:0:0:0:9
chr10   43111683        gridss170bb_33h C       [chr10:32016769[C       514.58  SINGLE_ASSEMBLY ANRP=0;ANRPQ=0;ANSR=0;ANSRQ=0;AS=1;ASC=2X;ASQ=465.22;ASRP=0;ASSR=21;BA=0;BAQ=0;BASRP=0;BASSR=0;BEID=asm172-3974;BEIDH=0;BEIDL=108;BMQ=60;BMQN=60;BMQX=60;BQ=771.15;BSC=27;BSCQ=591.15;BUM=3;BUMQ=180;BVF=4;CAS=0;CASQ=0;CIPOS=-1,0;CIRPOS=0,1;CQ=514.58;EVENT=gridss170bb_33;HOMLEN=1;HOMSEQ=G;IC=0;IHOMPOS=-1,0;IQ=0;MATEID=gridss170bb_33o;MQ=60;MQN=60;MQX=60;RAS=0;RASQ=0;REF=10249;REFPAIR=0;RP=0;RPQ=0;SB=0.54;SC=2X60M;SR=2;SRQ=49.37;SVTYPE=BND;VF=15;SIMPLE_SVTYPE=INV;SIMPLE_SVLEN=11094913   GT:AF:ANRP:ANRPQ:ANSR:ANSRQ:ASQ:ASRP:ASSR:BAQ:BASRP:BASSR:BQ:BSC:BSCQ:BUM:BUMQ:BVF:CASQ:IC:IQ:QUAL:RASQ:REF:REFPAIR:RP:RPQ:SR:SRQ:VF        .:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:3328:0:0:0:0:0:0      .:0.001799:0:0:0:0:207.04:0:9:0:0:0:241.32:8:181.32:1:60:1:0:0:0:256.41:0:3329:0:0:0:2:49.37:6      .:0.002499:0:0:0:0:258.17:0:12:0:0:0:529.83:19:409.83:2:120:3:0:0:0:258.17:0:3592:0:0:0:0:0:9
chr10   32016769        gridss170bb_33o C       [chr10:43111683[C       484.62  LOW_QUAL;SINGLE_ASSEMBLY        ANRP=0;ANRPQ=0;ANSR=0;ANSRQ=0;AS=0;ASC=2X107M;ASQ=0;ASRP=0;ASSR=20;BA=0;BAQ=0;BASRP=0;BASSR=0;BEID=asm172-4013;BEIDH=108;BEIDL=0;BQ=0;BSC=0;BSCQ=0;BUM=0;BUMQ=0;BVF=0;CAS=0;CASQ=0;CIPOS=0,1;CIRPOS=-1,0;CQ=484.62;EVENT=gridss170bb_33;HOMLEN=1;HOMSEQ=C;IC=0;IHOMPOS=0,1;IQ=0;MATEID=gridss170bb_33h;MQ=60;MQN=60;MQX=60;RAS=1;RASQ=435.26;REF=26;REFPAIR=0;RP=0;RPQ=0;SB=0.454545;SC=2X107M;SR=2;SRQ=49.37;SVTYPE=BND;VF=16;SIMPLE_SVTYPE=INV;SIMPLE_SVLEN=11094913  GT:AF:ANRP:ANRPQ:ANSR:ANSRQ:ASQ:ASRP:ASSR:BAQ:BASRP:BASSR:BQ:BSC:BSCQ:BUM:BUMQ:BVF:CASQ:IC:IQ:QUAL:RASQ:REF:REFPAIR:RP:RPQ:SR:SRQ:VF        .:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:3:0:0:0:0:0:0     .:0.333:0:0:0:0:0:0:7:0:0:0:0:0:0:0:0:0:0:0:0:208:158.64:12:0:0:0:2:49.37:6 .:0.476:0:0:0:0:0:0:13:0:0:0:0:0:0:0:0:0:0:0:0:276.62:276.62:11:0:0:0:0:0:10
chr10   43111683        gridss170bb_33h C       [chr10:32016769[C       484.62  LOW_QUAL;SINGLE_ASSEMBLY        ANRP=0;ANRPQ=0;ANSR=0;ANSRQ=0;AS=1;ASC=2X;ASQ=435.26;ASRP=0;ASSR=20;BA=0;BAQ=0;BASRP=0;BASSR=0;BEID=asm172-4013;BEIDH=0;BEIDL=108;BMQ=60;BMQN=60;BMQX=60;BQ=771.15;BSC=27;BSCQ=591.15;BUM=3;BUMQ=180;BVF=3;CAS=0;CASQ=0;CIPOS=-1,0;CIRPOS=0,1;CQ=484.62;EVENT=gridss170bb_33;HOMLEN=1;HOMSEQ=G;IC=0;IHOMPOS=-1,0;IQ=0;MATEID=gridss170bb_33o;MQ=60;MQN=60;MQX=60;RAS=0;RASQ=0;REF=10249;REFPAIR=0;RP=0;RPQ=0;SB=0.510204;SC=2X60M;SR=2;SRQ=49.37;SVTYPE=BND;VF=16;SIMPLE_SVTYPE=INV;SIMPLE_SVLEN=11094913       GT:AF:ANRP:ANRPQ:ANSR:ANSRQ:ASQ:ASRP:ASSR:BAQ:BASRP:BASSR:BQ:BSC:BSCQ:BUM:BUMQ:BVF:CASQ:IC:IQ:QUAL:RASQ:REF:REFPAIR:RP:RPQ:SR:SRQ:VF        .:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:3328:0:0:0:0:0:0  .:0.001799:0:0:0:0:158.64:0:7:0:0:0:241.32:8:181.32:1:60:1:0:0:0:208:0:3329:0:0:0:2:49.37:6 .:0.002776:0:0:0:0:276.62:0:13:0:0:0:529.83:19:409.83:2:120:2:0:0:0:276.62:0:3592:0:0:0:0:0:10
chr10   32016769        gridss170bb_33o C       [chr10:43111683[C       563.27  SINGLE_ASSEMBLY ANRP=0;ANRPQ=0;ANSR=0;ANSRQ=0;AS=0;ASC=2X107M;ASQ=0;ASRP=0;ASSR=23;BA=0;BAQ=0;BASRP=0;BASSR=0;BEID=asm172-3644;BEIDH=108;BEIDL=0;BQ=0;BSC=0;BSCQ=0;BUM=0;BUMQ=0;BVF=0;CAS=0;CASQ=0;CIPOS=0,1;CIRPOS=-1,0;CQ=563.27;EVENT=gridss170bb_33;HOMLEN=1;HOMSEQ=C;IC=0;IHOMPOS=0,1;IQ=0;MATEID=gridss170bb_33h;MQ=60;MQN=60;MQX=60;RAS=1;RASQ=513.9;REF=26;REFPAIR=0;RP=0;RPQ=0;SB=0.6;SC=2X107M;SR=2;SRQ=49.37;SVTYPE=BND;VF=15;SIMPLE_SVTYPE=INV;SIMPLE_SVLEN=11094913        GT:AF:ANRP:ANRPQ:ANSR:ANSRQ:ASQ:ASRP:ASSR:BAQ:BASRP:BASSR:BQ:BSC:BSCQ:BUM:BUMQ:BVF:CASQ:IC:IQ:QUAL:RASQ:REF:REFPAIR:RP:RPQ:SR:SRQ:VF        .:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:3:0:0:0:0:0:0     .:0.333:0:0:0:0:0:0:9:0:0:0:0:0:0:0:0:0:0:0:0:257.39:208.03:12:0:0:0:2:49.37:6      .:0.45:0:0:0:0:0:0:14:0:0:0:0:0:0:0:0:0:0:0:0:305.88:305.88:11:0:0:0:0:0:9
chr10   43111683        gridss170bb_33h C       [chr10:32016769[C       563.27  SINGLE_ASSEMBLY ANRP=0;ANRPQ=0;ANSR=0;ANSRQ=0;AS=1;ASC=2X;ASQ=513.9;ASRP=0;ASSR=23;BA=0;BAQ=0;BASRP=0;BASSR=0;BEID=asm172-3644;BEIDH=0;BEIDL=108;BMQ=60;BMQN=60;BMQX=60;BQ=771.15;BSC=27;BSCQ=591.15;BUM=3;BUMQ=180;BVF=4;CAS=0;CASQ=0;CIPOS=-1,0;CIRPOS=0,1;CQ=563.27;EVENT=gridss170bb_33;HOMLEN=1;HOMSEQ=G;IC=0;IHOMPOS=-1,0;IQ=0;MATEID=gridss170bb_33o;MQ=60;MQN=60;MQX=60;RAS=0;RASQ=0;REF=10249;REFPAIR=0;RP=0;RPQ=0;SB=0.576923;SC=2X60M;SR=2;SRQ=49.37;SVTYPE=BND;VF=15;SIMPLE_SVTYPE=INV;SIMPLE_SVLEN=11094913        GT:AF:ANRP:ANRPQ:ANSR:ANSRQ:ASQ:ASRP:ASSR:BAQ:BASRP:BASSR:BQ:BSC:BSCQ:BUM:BUMQ:BVF:CASQ:IC:IQ:QUAL:RASQ:REF:REFPAIR:RP:RPQ:SR:SRQ:VF        .:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:3328:0:0:0:0:0:0  .:0.001799:0:0:0:0:208.03:0:9:0:0:0:241.32:8:181.32:1:60:1:0:0:0:257.39:0:3329:0:0:0:2:49.37:6      .:0.002499:0:0:0:0:305.88:0:14:0:0:0:529.83:19:409.83:2:120:3:0:0:0:305.88:0:3592:0:0:0:0:0:9
chr10   32016769        gridss170bb_33o C       [chr10:43111683[C       453.65  LOW_QUAL;SINGLE_ASSEMBLY        ANRP=0;ANRPQ=0;ANSR=0;ANSRQ=0;AS=0;ASC=2X107M;ASQ=0;ASRP=0;ASSR=18;BA=0;BAQ=0;BASRP=0;BASSR=0;BEID=asm172-3776;BEIDH=108;BEIDL=0;BQ=0;BSC=0;BSCQ=0;BUM=0;BUMQ=0;BVF=0;CAS=0;CASQ=0;CIPOS=0,1;CIRPOS=-1,0;CQ=453.65;EVENT=gridss170bb_33;HOMLEN=1;HOMSEQ=C;IC=0;IHOMPOS=0,1;IQ=0;MATEID=gridss170bb_33h;MQ=60;MQN=60;MQX=60;RAS=1;RASQ=404.28;REF=26;REFPAIR=0;RP=0;RPQ=0;SB=0.5;SC=2X107M;SR=2;SRQ=49.37;SVTYPE=BND;VF=12;SIMPLE_SVTYPE=INV;SIMPLE_SVLEN=11094913       GT:AF:ANRP:ANRPQ:ANSR:ANSRQ:ASQ:ASRP:ASSR:BAQ:BASRP:BASSR:BQ:BSC:BSCQ:BUM:BUMQ:BVF:CASQ:IC:IQ:QUAL:RASQ:REF:REFPAIR:RP:RPQ:SR:SRQ:VF        .:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:3:0:0:0:0:0:0     .:0.25:0:0:0:0:0:0:7:0:0:0:0:0:0:0:0:0:0:0:0:213.64:164.27:12:0:0:0:2:49.37:4       .:0.421:0:0:0:0:0:0:11:0:0:0:0:0:0:0:0:0:0:0:0:240.01:240.01:11:0:0:0:0:0:8
chr10   43111683        gridss170bb_33h C       [chr10:32016769[C       453.65  LOW_QUAL;SINGLE_ASSEMBLY        ANRP=0;ANRPQ=0;ANSR=0;ANSRQ=0;AS=1;ASC=2X;ASQ=404.28;ASRP=0;ASSR=18;BA=0;BAQ=0;BASRP=0;BASSR=0;BEID=asm172-3776;BEIDH=0;BEIDL=108;BMQ=60;BMQN=60;BMQX=60;BQ=771.15;BSC=27;BSCQ=591.15;BUM=3;BUMQ=180;BVF=7;CAS=0;CASQ=0;CIPOS=-1,0;CIRPOS=0,1;CQ=453.65;EVENT=gridss170bb_33;HOMLEN=1;HOMSEQ=G;IC=0;IHOMPOS=-1,0;IQ=0;MATEID=gridss170bb_33o;MQ=60;MQN=60;MQX=60;RAS=0;RASQ=0;REF=10249;REFPAIR=0;RP=0;RPQ=0;SB=0.531915;SC=2X60M;SR=2;SRQ=49.37;SVTYPE=BND;VF=12;SIMPLE_SVTYPE=INV;SIMPLE_SVLEN=11094913       GT:AF:ANRP:ANRPQ:ANSR:ANSRQ:ASQ:ASRP:ASSR:BAQ:BASRP:BASSR:BQ:BSC:BSCQ:BUM:BUMQ:BVF:CASQ:IC:IQ:QUAL:RASQ:REF:REFPAIR:RP:RPQ:SR:SRQ:VF        .:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:3328:0:0:0:0:0:0  .:0.0012:0:0:0:0:164.27:0:7:0:0:0:241.32:8:181.32:1:60:3:0:0:0:213.64:0:3329:0:0:0:2:49.37:4        .:0.002222:0:0:0:0:240.01:0:11:0:0:0:529.83:19:409.83:2:120:4:0:0:0:240.01:0:3592:0:0:0:0:0:8
chr10   32016769        gridss170bb_33o C       [chr10:43111683[C       491.22  LOW_QUAL;SINGLE_ASSEMBLY        ANRP=0;ANRPQ=0;ANSR=0;ANSRQ=0;AS=0;ASC=2X107M;ASQ=0;ASRP=0;ASSR=20;BA=0;BAQ=0;BASRP=0;BASSR=0;BEID=asm172-4005;BEIDH=108;BEIDL=0;BQ=0;BSC=0;BSCQ=0;BUM=0;BUMQ=0;BVF=0;CAS=0;CASQ=0;CIPOS=0,1;CIRPOS=-1,0;CQ=491.22;EVENT=gridss170bb_33;HOMLEN=1;HOMSEQ=C;IC=0;IHOMPOS=0,1;IQ=0;MATEID=gridss170bb_33h;MQ=60;MQN=60;MQX=60;RAS=1;RASQ=441.85;REF=26;REFPAIR=0;RP=0;RPQ=0;SB=0.545455;SC=2X107M;SR=2;SRQ=49.37;SVTYPE=BND;VF=15;SIMPLE_SVTYPE=INV;SIMPLE_SVLEN=11094913  GT:AF:ANRP:ANRPQ:ANSR:ANSRQ:ASQ:ASRP:ASSR:BAQ:BASRP:BASSR:BQ:BSC:BSCQ:BUM:BUMQ:BVF:CASQ:IC:IQ:QUAL:RASQ:REF:REFPAIR:RP:RPQ:SR:SRQ:VF        .:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:3:0:0:0:0:0:0     .:0.333:0:0:0:0:0:0:9:0:0:0:0:0:0:0:0:0:0:0:0:254.34:204.97:12:0:0:0:2:49.37:6      .:0.45:0:0:0:0:0:0:11:0:0:0:0:0:0:0:0:0:0:0:0:236.88:236.88:11:0:0:0:0:0:9
chr10   43111683        gridss170bb_33h C       [chr10:32016769[C       491.22  LOW_QUAL;SINGLE_ASSEMBLY        ANRP=0;ANRPQ=0;ANSR=0;ANSRQ=0;AS=1;ASC=2X;ASQ=441.85;ASRP=0;ASSR=20;BA=0;BAQ=0;BASRP=0;BASSR=0;BEID=asm172-4005;BEIDH=0;BEIDL=108;BMQ=60;BMQN=60;BMQX=60;BQ=771.15;BSC=27;BSCQ=591.15;BUM=3;BUMQ=180;BVF=4;CAS=0;CASQ=0;CIPOS=-1,0;CIRPOS=0,1;CQ=491.22;EVENT=gridss170bb_33;HOMLEN=1;HOMSEQ=G;IC=0;IHOMPOS=-1,0;IQ=0;MATEID=gridss170bb_33o;MQ=60;MQN=60;MQX=60;RAS=0;RASQ=0;REF=10249;REFPAIR=0;RP=0;RPQ=0;SB=0.55102;SC=2X60M;SR=2;SRQ=49.37;SVTYPE=BND;VF=15;SIMPLE_SVTYPE=INV;SIMPLE_SVLEN=11094913        GT:AF:ANRP:ANRPQ:ANSR:ANSRQ:ASQ:ASRP:ASSR:BAQ:BASRP:BASSR:BQ:BSC:BSCQ:BUM:BUMQ:BVF:CASQ:IC:IQ:QUAL:RASQ:REF:REFPAIR:RP:RPQ:SR:SRQ:VF        .:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:3328:0:0:0:0:0:0  .:0.001799:0:0:0:0:204.97:0:9:0:0:0:241.32:8:181.32:1:60:1:0:0:0:254.34:0:3329:0:0:0:2:49.37:6      .:0.002499:0:0:0:0:236.88:0:11:0:0:0:529.83:19:409.83:2:120:3:0:0:0:236.88:0:3592:0:0:0:0:0:9
chr10	32016769	gridss170bb_33o	C	[chr10:43111683[C	490.06	LOW_QUAL;SINGLE_ASSEMBLY	ANRP=0;ANRPQ=0;ANSR=0;ANSRQ=0;AS=0;ASC=2X107M;ASQ=0;ASRP=0;ASSR=20;BA=0;BAQ=0;BASRP=0;BASSR=0;BEID=asm172-3772;BEIDH=108;BEIDL=0;BQ=0;BSC=0;BSCQ=0;BUM=0;BUMQ=0;BVF=0;CAS=0;CASQ=0;CIPOS=0,1;CIRPOS=-1,0;CQ=490.06;EVENT=gridss170bb_33;HOMLEN=1;HOMSEQ=C;IC=0;IHOMPOS=0,1;IQ=0;MATEID=gridss170bb_33h;MQ=60;MQN=60;MQX=60;RAS=1;RASQ=440.69;REF=26;REFPAIR=0;RP=0;RPQ=0;SB=0.545455;SC=2X107M;SR=2;SRQ=49.37;SVTYPE=BND;VF=13;SIMPLE_SVTYPE=INV;SIMPLE_SVLEN=11094913	GT:AF:ANRP:ANRPQ:ANSR:ANSRQ:ASQ:ASRP:ASSR:BAQ:BASRP:BASSR:BQ:BSC:BSCQ:BUM:BUMQ:BVF:CASQ:IC:IQ:QUAL:RASQ:REF:REFPAIR:RP:RPQ:SR:SRQ:VF	.:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:3:0:0:0:0:0:0	.:0.294:0:0:0:0:0:0:8:0:0:0:0:0:0:0:0:0:0:0:0:233.66:184.29:12:0:0:0:2:49.37:5	.:0.421:0:0:0:0:0:0:12:0:0:0:0:0:0:0:0:0:0:0:0:256.4:256.4:11:0:0:0:0:0:8
chr10	43111683	gridss170bb_33h	C	[chr10:32016769[C	490.06	LOW_QUAL;SINGLE_ASSEMBLY	ANRP=0;ANRPQ=0;ANSR=0;ANSRQ=0;AS=1;ASC=2X;ASQ=440.69;ASRP=0;ASSR=20;BA=0;BAQ=0;BASRP=0;BASSR=0;BEID=asm172-3772;BEIDH=0;BEIDL=108;BMQ=60;BMQN=60;BMQX=60;BQ=771.15;BSC=27;BSCQ=591.15;BUM=3;BUMQ=180;BVF=6;CAS=0;CASQ=0;CIPOS=-1,0;CIRPOS=0,1;CQ=490.06;EVENT=gridss170bb_33;HOMLEN=1;HOMSEQ=G;IC=0;IHOMPOS=-1,0;IQ=0;MATEID=gridss170bb_33o;MQ=60;MQN=60;MQX=60;RAS=0;RASQ=0;REF=10249;REFPAIR=0;RP=0;RPQ=0;SB=0.55102;SC=2X60M;SR=2;SRQ=49.37;SVTYPE=BND;VF=13;SIMPLE_SVTYPE=INV;SIMPLE_SVLEN=11094913	GT:AF:ANRP:ANRPQ:ANSR:ANSRQ:ASQ:ASRP:ASSR:BAQ:BASRP:BASSR:BQ:BSC:BSCQ:BUM:BUMQ:BVF:CASQ:IC:IQ:QUAL:RASQ:REF:REFPAIR:RP:RPQ:SR:SRQ:VF	.:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:3328:0:0:0:0:0:0	.:0.0015:0:0:0:0:184.29:0:8:0:0:0:241.32:8:181.32:1:60:2:0:0:0:233.66:0:3329:0:0:0:2:49.37:5	.:0.002222:0:0:0:0:256.4:0:12:0:0:0:529.83:19:409.83:2:120:4:0:0:0:256.4:0:3592:0:0:0:0:0:8

What is more concserning, is that on the 7th time this paired breakpoint converted to sigle breakend:

chr10	43111682	gridss172b_309b	G	.CCTGTAATCCCAACACTTTGGGAGGTCGAGGCGGGTGGATCACCTG	1100.22	LOW_QUAL	ANRP=0;ANRPQ=0;ANSR=0;ANSRQ=0;AS=0;ASC=1X;ASQ=0;ASRP=0;ASSR=0;BA=1;BAQ=329.06;BASRP=0;BASSR=15;BEALN=chr7:6967118|+|45M|0;BEID=asm172-3936;BEIDH=-1;BEIDL=45;BMQ=60;BMQN=60;BMQX=60;BQ=1100.22;BSC=27;BSCQ=591.15;BUM=3;BUMQ=180;BVF=18;CAS=0;CASQ=0;CQ=1100.22;EVENT=gridss172b_309;IC=0;INSRM=AluSp#SINE/Alu|22|+|45M|389|3;INSRMP=1;INSRMRC=SINE/Alu;INSRMRO=+;INSRMRT=AluSp;IQ=0;RAS=0;RASQ=0;REF=10249;REFPAIR=0;RP=0;RPQ=0;SB=0.547619;SC=1X;SR=0;SRQ=0;SVTYPE=BND;VF=0;SIMPLE_SVTYPE=BND	GT:AF:ANRP:ANRPQ:ANSR:ANSRQ:ASQ:ASRP:ASSR:BAQ:BASRP:BASSR:BQ:BSC:BSCQ:BUM:BUMQ:BVF:CASQ:IC:IQ:QUAL:RASQ:REF:REFPAIR:RP:RPQ:SR:SRQ:VF	.:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:3328:0:0:0:0:0:0	.:0.001799:0:0:0:0:0:0:0:91.04:0:4:332.37:8:181.32:1:60:6:0:0:0:0:0:3329:0:0:0:0:0:0	.:0.00333:0:0:0:0:0:0:0:238.02:0:11:767.85:19:409.83:2:120:12:0:0:0:0:0:3592:0:0:0:0:0:0

I presume, that is a side effect of parallelism on assembly step (since all these variants has different asm ids). Is there any way to fix it, providing any parameter like seed or anything similar?

@gseryogin
Copy link
Author

Even running gridss with --threads 1 does not help, number of rows still differ and all the values fluctuate the same way...

@d-cameron
Copy link
Member

Do *_metrics differ? -> input files are different between runs?
Do the input.bam.sv.bam file differ? -> introduced by the call to bwa mem for soft clip realignment
Do the assembly.bam files differ? -> introduced by the GRIDSS assembler
Do the assembly.bam.sv.bam files differ? -> introduced by the call to bwa mem for assembly realignment
Do the output.breakpoint.vcf files differ? -> introduced by max-clique candidate identification
Do the output.vcf files differ? -> introduced by final evidence allocation

@d-cameron
Copy link
Member

May need to run with --keepTempFiles to check each stage.

@gseryogin
Copy link
Author

Do *_metrics differ? -> No
Do the input.bam.sv.bam file differ? -> No
Do the assembly.bam files differ? -> Yes
Do the assembly.bam.sv.bam files differ? -> Yes
Do the output.breakpoint.vcf files differ? -> Yes
Do the output.vcf files differ? -> Yes

So it looks like everything starts to diverge right after the GRIDSS assembler step

@gseryogin
Copy link
Author

@d-cameron Hi!
Could please help to debug the GRIDSS assembler and localize the irreproducible step within it?

Sign up for free to join this conversation on GitHub. Already have an account? Sign in to comment
Labels
None yet
Projects
None yet
Development

No branches or pull requests

2 participants