PapenfussLab / gridss

GRIDSS: the Genomic Rearrangement IDentification Software Suite
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Asymmetrical CASQ for fold-back inversions #362

Open d-cameron opened 4 years ago

d-cameron commented 4 years ago

Since scoring is taken from the anchoring position on the other side, we're taking different locations in the contig to score from. We should always take the same position.

d-cameron commented 4 years ago

Bug: CASQ is asymetrical for foldback inversions. Example: COLO829 hg38 chr3:440315

chr3    440315  gridss49ff_411h A       A]chr3:440315]  2951.02 PASS    AS=1;ASC=82M1X5N1X;ASQ=329.39;ASRP=0;ASSR=145;BA=0;BANRP=0;BANRPQ=0.00;BANSR=1;BANSRQ=18.00;BAQ=0.00;BASRP=0;BASSR=0;BEID=asm49-14709,asm49-14710,asm49-57602,asm49-57602;BEIDH=0,38,0,89;BEIDL=146,0,89,0;BQ=0.00;BSC=0;BSCQ=0.00;BUM=0;BUMQ=0.00;BVF=0;CAS=2;CASQ=1956.59;CIPOS=-3,3;CIRPOS=-3,3;CQ=3945.45;EVENT=gridss49ff_411;HOMLEN=6;HOMSEQ=ATATAT;IC=0;IHOMPOS=0,0;IQ=0.00;MATEID=gridss49ff_411o;MQ=42.17;MQN=25.00;MQX=60.00;RAS=1;RASQ=628.76;REF=70;REFPAIR=19;RP=0;RPQ=0.00;SB=0.44927537;SC=113M1X5N1X;SR=2;SRQ=36.28;SVTYPE=BND;VF=58 GT:ASQ:ASRP:ASSR:BANRP:BANRPQ:BANSR:BANSRQ:BAQ:BASRP:BASSR:BQ:BSC:BSCQ:BUM:BUMQ:BVF:CASQ:IC:IQ:QUAL:RASQ:REF:REFPAIR:RP:RPQ:SR:SRQ:VF  .:122.73:0:39:0:0.00:0:0.00:0.00:0:0:0.00:0:0.00:0:0.00:0:505.80:0:0.00:798.31:151.50:19:2:0:0.00:1:18.27:16    .:206.66:0:106:0:0.00:1:18.00:0.00:0:0:0.00:0:0.00:0:0.00:0:1450.79:0:0.00:2152.71:477.26:51:17:0:0.00:1:18.00:42
chr3    440315  gridss49ff_411o A       A]chr3:440315]  994.43  PASS    AS=1;ASC=113M1X5N1X;ASQ=628.76;ASRP=0;ASSR=51;BA=0;BANRP=0;BANRPQ=0.00;BANSR=1;BANSRQ=18.00;BAQ=0.00;BASRP=0;BASSR=0;BEID=asm49-14709,asm49-14710;BEIDH=146,0;BEIDL=0,38;BMQ=58.53;BMQN=37.00;BMQX=60.00;BQ=516.66;BSC=30;BSCQ=516.66;BUM=0;BUMQ=0.00;BVF=0;CAS=0;CASQ=0.00;CIPOS=-3,3;CIRPOS=-3,3;CQ=3945.45;EVENT=gridss49ff_411;HOMLEN=6;HOMSEQ=ATATAT;IC=0;IHOMPOS=0,0;IQ=0.00;MATEID=gridss49ff_411h;MQ=42.25;MQN=25.00;MQX=60.00;RAS=1;RASQ=329.39;REF=70;REFPAIR=19;RP=0;RPQ=0.00;SB=0.45783132;SC=113M1X5N1X;SR=2;SRQ=36.28;SVTYPE=BND;VF=47 GT:ASQ:ASRP:ASSR:BANRP:BANRPQ:BANSR:BANSRQ:BAQ:BASRP:BASSR:BQ:BSC:BSCQ:BUM:BUMQ:BVF:CASQ:IC:IQ:QUAL:RASQ:REF:REFPAIR:RP:RPQ:SR:SRQ:VF  .:151.50:0:15:0:0.00:0:0.00:0.00:0:0:191.69:11:191.69:0:0.00:0:0.00:0:0.00:292.51:122.73:19:2:0:0.00:1:18.27:14 .:477.26:0:36:0:0.00:1:18.00:0.00:0:0:324.96:19:324.96:0:0.00:0:0.00:0:0.00:701.92:206.66:51:17:0:0.00:1:18.00:33
chr10   73007965    gridss174ff_1132h   T       TAAAAATTCCTCACTTAAAAAAATTTCTCATCACTGGTCATCAGAGAAATTTTTCTTAAGTGAGGAATTTTTT]chr10:73007965]       1439.91 SINGLE_ASSEMBLY AS=0;ASC=136M1X;ASQ=0.00;ASRP=41;ASSR=19;BA=0;BANRP=7;BANRPQ=118.04;BANSR=4;BANSRQ=111.11;BAQ=0.00;BASRP=0;BASSR=0;BEID=asm174-44512;BEIDH=0;BEIDL=257;BQ=0.00;BSC=0;BSCQ=0.00;BUM=0;BUMQ=0.00;BVF=0;CAS=0;CASQ=0.00;CQ=4883.04;EVENT=gridss174ff_1132;IC=0;IHOMPOS=0,0;IQ=0.00;MATEID=gridss174ff_1132o;MQ=54.50;MQN=23.00;MQX=60.00;RAS=1;RASQ=1210.76;REF=96;REFPAIR=65;RP=7;RPQ=118.04;SB=0.31343284;SC=226M1X;SR=4;SRQ=111.11;SVTYPE=BND;VF=44  GT:ASQ:ASRP:ASSR:BANRP:BANRPQ:BANSR:BANSRQ:BAQ:BASRP:BASSR:BQ:BSC:BSCQ:BUM:BUMQ:BVF:CASQ:IC:IQ:QUAL:RASQ:REF:REFPAIR:RP:RPQ:SR:SRQ:VF  .:0.00:7:2:0:0.00:0:0.00:0.00:0:0:0.00:0:0.00:0:0.00:0:0.00:0:0.00:183.45:183.45:22:21:0:0.00:0:0.00:9  .:0.00:34:17:7:118.04:4:111.11:0.00:0:0:0.00:0:0.00:0:0.00:0:0.00:0:0.00:1256.46:1027.31:74:44:7:118.04:4:111.11:35
chr10   73007965    gridss174ff_1132o   T       TAAAAAATTCCTCACTTAAGAAAAATTTCTCTGATGACCAGTGATGAGAAATTTTTTTAAGTGAGGAATTTTT]chr10:73007965]       3527.45 SINGLE_ASSEMBLY AS=1;ASC=153M1X;ASQ=1210.76;ASRP=163;ASSR=19;BA=0;BANRP=0;BANRPQ=0.00;BANSR=0;BANSRQ=0.00;BAQ=0.00;BASRP=0;BASSR=0;BEID=asm174-44512,asm252-120109,asm252-120109,asm252-57121,asm252-57121;BEIDH=257,190,0,581,355;BEIDL=0,0,190,355,581;BMQ=59.63;BMQN=54.00;BMQX=60.00;BQ=1233.11;BSC=55;BSCQ=1172.15;BUM=2;BUMQ=60.95;BVF=33;CAS=4;CASQ=2087.54;CQ=4883.04;EVENT=gridss174ff_1132;IC=0;IHOMPOS=0,0;IQ=0.00;MATEID=gridss174ff_1132h;MQ=55.88;MQN=23.00;MQX=60.00;RAS=0;RASQ=0.00;REF=96;REFPAIR=65;RP=7;RPQ=118.04;SB=0.4699248;SC=153M1X;SR=4;SRQ=111.11;SVTYPE=BND;VF=74       GT:ASQ:ASRP:ASSR:BANRP:BANRPQ:BANSR:BANSRQ:BAQ:BASRP:BASSR:BQ:BSC:BSCQ:BUM:BUMQ:BVF:CASQ:IC:IQ:QUAL:RASQ:REF:REFPAIR:RP:RPQ:SR:SRQ:VF   .:183.45:35:2:0:0.00:0:0.00:0.00:0:0:284.97:12:254.59:1:30.38:7:502.47:0:0.00:685.92:0.00:22:21:0:0.00:0:0.00:16       .:1027.31:128:17:0:0.00:0:0.00:0.00:0:0:948.13:43:917.56:1:30.57:26:1585.06:0:0.00:2841.52:0.00:74:44:7:118.04:4:111.11:58
chr6    66782677    gridss112ff_1501h   T       T]chr6:66782677]        842.02  SINGLE_ASSEMBLY AS=0;ASC=83M1D2X;ASQ=0.00;ASRP=1;ASSR=36;BA=0;BANRP=0;BANRPQ=0.00;BANSR=8;BANSRQ=149.01;BAQ=0.00;BASRP=0;BASSR=0;BEID=asm112-36216;BEIDH=0;BEIDL=125;BQ=0.00;BSC=0;BSCQ=0.00;BUM=0;BUMQ=0.00;BVF=0;CAS=0;CASQ=0.00;CIPOS=-2,2;CIRPOS=-2,2;CQ=2856.30;EVENT=gridss112ff_1501;HOMLEN=4;HOMSEQ=ATAT;IC=0;IHOMPOS=0,0;IQ=0.00;MATEID=gridss112ff_1501o;MQ=54.45;MQN=28.00;MQX=60.00;RAS=1;RASQ=655.13;REF=49;REFPAIR=0;RP=0;RPQ=0.00;SB=0.32608697;SC=107M2X;SR=10;SRQ=186.89;SVTYPE=BND;VF=28   GT:ASQ:ASRP:ASSR:BANRP:BANRPQ:BANSR:BANSRQ:BAQ:BASRP:BASSR:BQ:BSC:BSCQ:BUM:BUMQ:BVF:CASQ:IC:IQ:QUAL:RASQ:REF:REFPAIR:RP:RPQ:SR:SRQ:VF  .:0.00:0:13:0:0.00:4:75.85:0.00:0:0:0.00:0:0.00:0:0.00:0:0.00:0:0.00:310.33:234.48:15:0:0:0.00:4:75.85:9        .:0.00:1:23:0:0.00:4:73.16:0.00:0:0:0.00:0:0.00:0:0.00:0:0.00:0:0.00:531.69:420.66:34:0:0:0.00:6:111.03:19
chr6    66782677    gridss112ff_1501o   T       T]chr6:66782677]        2052.16 SINGLE_ASSEMBLY AS=1;ASC=43M1X3N1X;ASQ=655.13;ASRP=25;ASSR=76;BA=0;BANRP=0;BANRPQ=0.00;BANSR=0;BANSRQ=0.00;BAQ=0.00;BASRP=0;BASSR=0;BEID=asm112-36216,asm112-76401,asm112-76401;BEIDH=125,2,49;BEIDL=0,49,2;BQ=0.00;BSC=0;BSCQ=0.00;BUM=0;BUMQ=0.00;BVF=0;CAS=2;CASQ=1210.14;CIPOS=-2,2;CIRPOS=-2,2;CQ=2856.30;EVENT=gridss112ff_1501;HOMLEN=4;HOMSEQ=ATAT;IC=0;IHOMPOS=0,0;IQ=0.00;MATEID=gridss112ff_1501h;MQ=54.23;MQN=28.00;MQX=60.00;RAS=0;RASQ=0.00;REF=49;REFPAIR=0;RP=0;RPQ=0.00;SB=0.74615383;SC=110M1X3N1X;SR=10;SRQ=186.89;SVTYPE=BND;VF=34       GT:ASQ:ASRP:ASSR:BANRP:BANRPQ:BANSR:BANSRQ:BAQ:BASRP:BASSR:BQ:BSC:BSCQ:BUM:BUMQ:BVF:CASQ:IC:IQ:QUAL:RASQ:REF:REFPAIR:RP:RPQ:SR:SRQ:VF  .:234.48:10:23:0:0.00:0:0.00:0.00:0:0:0.00:0:0.00:0:0.00:0:373.02:0:0.00:683.35:0.00:15:0:0:0.00:4:75.85:9      .:420.66:15:53:0:0.00:0:0.00:0.00:0:0:0.00:0:0.00:0:0.00:0:837.11:0:0.00:1368.80:0.00:34:0:0:0.00:6:111.03:25