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Description
Dear bcftools maintainer,
I have a quick question about using bcftools merge. It turns out the bcftools could not recognize the ALT as '' in the gvcf file (yielded by Octopus) after merging. Those lines with '' was treated as missing (./.........) in the merged file. Please find an example here:
By looking at the merged gvcf, at location 55, the sample 13T1500006 was treated as missing, however if you check this individual below, it actually suggests from 53 to 71 are all homozygous 0/0 with DP = 8 , but bcftools treat it as missing. Here I used blocked gvcf due to the size efficiency, how to let bcftools not treat those blocked gvcf region as missing if DP (coverage) is high. I also tried -gvcf to vcf, it wound help a lot.
Melup_Chr1 53 . A * 10.47 AD;ADP AC=0;AN=2;DP=8;END=71;MQ=27;NS=1 GT
:GQ:DP:MQ:FT 0|0:15:8:27:AD,ADP
Will thank for your time looking into this.
this is merged vcf file (13T1500003, 13T1500006, 13T1500009)
#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT 13T1500003 13T1500006
13T1500009
Melup_Chr1 1 . T * 3 q10;MQ;AD;DP;ADP END=54;MQ=0;NS=0;DP=8;
AN=6;AC=0 GT:GQ:DP:MQ:FT 0|0:3:0:0:q10,MQ,AD,DP,ADP 0|0:3:4:27:q10,AD,ADP 0|0:3:4:27:q10
,AD,ADP
Melup_Chr1 53 . A * 10.47 AD;ADP END=71;MQ=27;NS=1;DP=8;AN=2;AC=0
GT:GQ:DP:MQ:FT ./.:.:.:.:. 0|0:15:8:27:AD,ADP ./.:.:.:.:.
Melup_Chr1 55 . G * 6.67 q10;AD;ADP END=93;MQ=42;NS=1;DP=11;AN=2;A
C=0 GT:GQ:DP:MQ:FT 0|0:15:11:42:q10,AD,ADP ./.:.:.:.:. ./.:.:.:.:.
Melup_Chr1 67 . G * 14.02 AD;ADP END=162;MQ=27;NS=1;DP=7;AN=2;AC=0
GT:GQ:DP:MQ:FT ./.:.:.:.:. ./.:.:.:.:. 0|0:15:7:27:AD,ADP
this is an individual gvcf file (13T1500003)
#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT 13T1500003
Melup_Chr1 1 . T * 3 q10;MQ;AD;DP;ADP AC=0;AN=2;DP=0;END=54;
MQ=0;NS=0 GT:GQ:DP:MQ:FT 0|0:3:0:0:q10,MQ,AD,DP,ADP
Melup_Chr1 55 . G * 6.67 q10;AD;ADP AC=0;AN=2;DP=11;END=93;MQ=42;N
S=1 GT:GQ:DP:MQ:FT 0|0:15:11:42:q10,AD,ADP
Melup_Chr1 94 . C * 0.85 q10;AD;ADP AC=0;AN=2;DP=14;END=205;MQ=39;
NS=1 GT:GQ:DP:MQ:FT 0|0:3:14:39:q10,AD,ADP
Melup_Chr1 206 . C * 15.17 AD;ADP AC=0;AN=2;DP=7;END=233;MQ=39;NS=1
GT:GQ:DP:MQ:FT 0|0:21:7:39:AD,ADP
Melup_Chr1 234 . T * 3 q10;AD;ADP AC=0;AN=2;DP=10;END=1910;MQ=45
;NS=1 GT:GQ:DP:MQ:FT 0|0:9:10:45:q10,AD,ADP
this is an individual gvcf file (13T1500006)
#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT 13T1500006
Melup_Chr1 1 . T * 3 q10;AD;ADP AC=0;AN=2;DP=4;END=52;MQ=27;NS=1
GT:GQ:DP:MQ:FT 0|0:3:4:27:q10,AD,ADP
Melup_Chr1 53 . A * 10.47 AD;ADP AC=0;AN=2;DP=8;END=71;MQ=27;NS=1 GT
:GQ:DP:MQ:FT 0|0:15:8:27:AD,ADP
Melup_Chr1 72 . G * 22.13 AD;ADP AC=0;AN=2;DP=11;END=88;MQ=27;NS=1 GT
:GQ:DP:MQ:FT 0|0:27:11:27:AD,ADP
Melup_Chr1 89 . A * 1.38 q10 AC=0;AN=2;DP=11;MQ=27;NS=1 GT:GQ:DP:M
Q:FT 0|0:1:11:27:q10