SURVIVOR: SURVIVOR merging to wrong svtypes.
Hi Again,
I running lattes version (1.0.7) of SURVIVOR and found strange behavior of merging, though i am using svtype into consideration.
list: BreakDancerSortVCF.vcf dellySort.vcf lumpySort.vcf MantaCandidateSV…vcf.gz
##OPTIONS Caller = 3 Type No minimum sv length No strand info
SURVIVOR merge list 1000 3 1 0 0 30 MergeOut.vcf
chr15 78630477 MantaINS~364025~1~2~0~0~0 TG TTTGGTGTACCACCCAGAGACCACAGAGACAGTTGGATGCCATTCTTCACTCACTGAAGTAGAGAAATGTATGTATA . PASS SUPP=3;SUPP_VEC=0111;SVLEN=585;SVTYPE=DUP;SVMETHOD=SURVIVOR1.0.7;CHR2=chr15;END=78631125;CIPOS=0,621;CIEND=-27,0;STRANDS=+- GT:PSV:LN:DR:ST:QV:TY:ID:RAL:AAL:CO ./.:NaN:0:0,0:--:NaN:NaN:NaN:NAN:NAN:NAN 0/1:NA:554:18,0:-+:.:DUP:DUP00014037:NA:NA:chr15_78630545-chr15_78631099 ./.:NA:554:0,32:+-:.,.:DUP,DEL:27945:NA:NA:chr15_78630544-chr15_78631098,chr15_78630605-chr15_78631099 ./.:NA:648:0,0:+-:.,.,.:DUP,INS,INS:MantaINS~364025~1~2~0~0~0:TG:TTTGGTGTACCACCCAGAGACCACAGAGACAGTTGGATGCCATTCTTCACTCACTGAAGTAGAGAAATGTATGTATA:chr15_78630477-chr15_78631125,chr15_78631098-chr15_78631099,chr15_78631098-chr15_78631099
You may see SURVIVOR took call of DUP and DEL from “delly” as well as “DUP”, “INS”, “INS”, “INS” from Manta.
I really dont get it, since INS in both case have either one base difference or none (start and end is same in case of manta). It should NOT merge INS.
Example of DEL in all four vcf (random not the above example):
MantaCandidateSV.vcf
chr1 3009350 MantaDEL:7:0:0:0:0:0 TTGTGTGTGTGTG T . . END=3009362;SVTYPE=DEL;SVLEN=-12;CIGAR=1M12D;CIPOS=0,41;HOMLEN=41;HOMSEQ=TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT;UPSTREAM_PAIR_COUNT=0;DOWNSTREAM_PAIR_COUNT=0;PAIR_COUNT=0
GT190533_FKDL190729564-1a_H225YCCX2_cat_L2_1.fq.gz_dedupe_BreakDancerSortVCF.vcf
chr1 3499556 . . . . PASS PROGRAM=breakdancer;SVTYPE=DEL;SVLEN=2855;SVEND=3502300 GT:DP 1/.:16
GT190533_FKDL190729564-1a_H225YCCX2_cat_L2_1.fq.gz_dedupe_dellySort.vcf
chr1 3031359 DEL00000000 T <DEL> 0 PASS PRECISE;SVTYPE=DEL;SVMETHOD=EMBL.DELLYv0.8.1;CHR2=chr1;END=3031717;PE=0;MAPQ=0;CT=3to5;CIPOS=-8,8;CIEND=-8,8;SRMAPQ=60;INSLEN=0;HOMLEN=7;SR=16;SRQ=0.994845;CONSENSUS=CATGCTCTATACCTAATACCCACTTATCAGTGAGTATACACCATGTGTGATATTTTGTGATGGAGTTACCTCACTCAGGATATTATTTTGTAGATCCATTCATTTGCCTGTGAGTTTCATGAAGTCACTATTTTTAATAGCTGAGTAATACTCCATTTTGTAAATATATCAGATTTTCTGTATCTATTCCTCT;CE=1.89153 GT:GL:GQ:FT:RCL:RC:RCR:CN:DR:DV:RR:RV 1/1:-103.199,-7.82553,0:78:PASS:5534:22:5773:0:0:0:0:26
GT190533_FKDL190729564-1a_H225YCCX2_cat_L2_1.fq.gz_dedupe_lumpySort.vcf
chr1 3031359 1 N <DEL> . . SVTYPE=DEL;STRANDS=+-:19;SVLEN=-359;END=3031718;CIPOS=0,0;CIEND=0,0;CIPOS95=0,0;CIEND95=0,0;SU=19;PE=0;SR=19 GT:SU:PE:SR ./.:19:0:19
You may notice that there is no SVLEN for Delly whereas lumpy and manta have negative SVLEN while breakdancer have +ve SVLEN. is that make confusion to SURVIVOR ?
Regards, Rupesh
About this issue
- Original URL
- State: closed
- Created 5 years ago
- Comments: 16 (8 by maintainers)
Ok, but i concern about DEL. So what i think is better and safe to do is to split the vcf by svtype and then use SURVIVOR to merge it.
Rupesh