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vardict -3 parameter : get a new confused variant #183

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jiangldu opened this issue Mar 23, 2023 · 1 comment
Open

vardict -3 parameter : get a new confused variant #183

jiangldu opened this issue Mar 23, 2023 · 1 comment

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@jiangldu
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hi, when using -3 parameter, i got some confused variants.
reference genome: hg38
vardict-java with -3 parameter , i got this mutation :
chr17 39724742 . A AGCATACGTGATG 188 PASS SAMPLE=028032_gDNA;TYPE=Insertion;DP=2012;VD=32;AF=0.0159;BIAS=2:2;REFBIAS=1015:960;VARBIAS=18:14;PMEAN=37.2;PSTD=1;QUAL=37.7;QSTD=1;SBF=0.59883;ODDRATIO=1.2159237372632;MQ=60;SN=64;HIAF=0.0164;ADJAF=0;SHIFT3=14;MSI=2;MSILEN=1;NM=0.1;HICNT=32;HICOV=1946;LSEQ=CCAGGAAGCATACGTGATGG;RSEQ=TGGTGTGGGCTCCCCATATG;DUPRATE=0;SPLITREAD=0;SPANPAIR=0 GT:DP:VD:AD:AF:RD:ALD 0/1:2012:32:1975,32:0.0159:1015,960:18,14

without -3 parameter:
chr17 39724728 . A AGCATACGTGATG 188 PASS SAMPLE=028032_gDNA;TYPE=Insertion;DP=2012;VD=32;AF=0.0159;BIAS=2:2;REFBIAS=1015:960;VARBIAS=18:14;PMEAN=37.2;PSTD=1;QUAL=37.7;QSTD=1;SBF=0.59883;ODDRATIO=1.2159237372632;MQ=60;SN=64;HIAF=0.0164;ADJAF=0;SHIFT3=14;MSI=2;MSILEN=1;NM=0.1;HICNT=32;HICOV=1946;LSEQ=GCGTACCCTTGTCCCCAGGA;RSEQ=GCATACGTGATGGCTGGTGT;DUPRATE=0;SPLITREAD=0;SPANPAIR=0 GT:DP:VD:AD:AF:RD:ALD 0/1:2012:32:1975,32:0.0159:1015,960:18,14

the insert sequence "GCATACGTGATG" is a duplication of chr17:39724728 - 39724740. Thus I think the genomic location shoud be chr17: 39724740 not chr17: 39724742 with -3 parameter.

cmd: with -3
/Data/userhome/miniconda3/bin/vardict-java
-3 \ ##the only difference
-Q 15
-q 20
-th 10
-k 0
-G $ref
-f 0.01
-N $sample
-b ${sample}.rmdup.sort.bam
-c 1
-S 2
-E 3
-g 4
-z 1
$bed
|tee ${sample}.vardict.tbl
|/Data/userhome/Biosoftware/VarDict/VarDictJava/VarDict/teststrandbias.R
|/Data/userhome/Biosoftware/VarDict/VarDictJava/VarDict/var2vcf_valid.pl
-S
-N $sample -E
-f 0.01
> ${sample}.vardict_all.vcf

waiting for reply, thanks

@jammywwh
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chr17 39724742 is right, but here is another problem, why "chr17 39724728 . A AGCATACGTGATG" and "chr17 39724742 . A AGCATACGTGATG" have same ref and alt? In my opinion, vardict-java with -3 parameter, it should be "chr17 39724742 . C CATACGTGATGGC", because chr17:39724742 ref is C.
anyone else can help me?

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