Unconfigured Ad

Collapse
X
 
  • Time
  • Show
Clear All
new posts
  • idaios
    Junior Member
    • Feb 2016
    • 2

    #1

    merge vcf's (or gvcfs ?) from IonTorrent (v. 5.0.2)

    Dear Seqanswers Community,

    First, I have to apologize because I have sent a similar question to biostars. However, I haven't received yet a satisfying answers.

    My task is to merge many (about 200) vcf files produced by IonTorrent. The suite version our lab uses is the 5.0.2. The version 5.0.2 produces both vcf and genome.vcf.

    question 1: should I try to merge the vcf files or try to merge the genome.vcf (gvcf?). It seems to me that merging vcf files will not be correct because vcf files report only the polymorphic information per individual. Thus, if the reference is A, ind1 is A/A and ind2: A/C, I will not get any information for ind1 at the specific position. I'll not know then if this is because of low coverage/unavailable information or homozygosity for the reference. Therefore, in my opinion, gvcf's are the only appropriate files. Is it correct?

    question 2: I tried to merge the gvcf files produced by v5.0.2 of Torrent Suite, using the bcftools. However, I got an error message from bcftools reporting the the REFERENCE nucleotide is different in two files that I'm trying to merge.... very weird. I then checked the files produced by Torrent Suite and I see the following weird thing:

    Code:
    chr1	32052145    	.   	G   	A   	183.764 PASS  AF=0.571429;AO=36;DP=63;FAO=36;FDP=63;FR=.;FRO=27;FSAF=16;FSAR=20;FSRF=19;FSRR=8 ;FWDB=-0.0607612;FXX=0;HRUN=1;LEN=1;MLLD=77.9064;OALT=A;OID=.;OMAPALT=A;OPOS=320 52145;OREF=G;PB=0.5;PBP=1;QD=11.6676;RBI=0.0674491;REFB=-0.0729453;REVB=0.029282 4;RO=27;SAF=16;SAR=20;SRF=19;SRR=8;SSEN=0;SSEP=0;SSSB=-0.19967;STB=0.609697;STBP =0.053;TYPE=snp;VARB=0.0471623 GT:GQ:DP:FDP:RO:FRO:AO:FAO:AF:SAR:SAF:SRF:SRR:FSAR:FSAF:FSRF:FSRR    0/1:103:63:63:27:27:36:36:0.571429:20:16:19:8:20:16:19:8
    
     
    chr1	32052145    	.   	T   	.   	0   	PASS	DP=185;END=32052348;MAX_DP=206;MIN_DP=173   	GT:DP:MIN_DP:MAX_DP 	0/0:185:173:206
    Obviously, Torrent Suite is buggy.

    The question is: what should I use to merge either vcf or gvcf files when I'm working with torrent data?

    P.S. people suggest that I should not use gatk for SNP calling with torrent, because of the torrent technology. They advice to use only the Torrent Suite for SNP calling... (but how do I merge them then?).

    thanks a lot
    pavlos
    Last edited by GenoMax; 02-05-2016, 09:33 AM. Reason: added CODE tags to improve readability
  • amklicon
    Junior Member
    • Feb 2015
    • 1

    #2
    I'm having the same issues, and am also wondering what the best route is for doing joint genotyping with torrent data. Hoping someone has a good solution!

    Comment

    • idaios
      Junior Member
      • Feb 2016
      • 2

      #3
      No solution yet... It's really amazing that it seems that there is no solution when torrent data are used

      Comment

      Latest Articles

      Collapse

      • SEQadmin2
        16S/ITS Profiling vs. Shotgun Metagenomics: What Changes in Your Workflow?
        by SEQadmin2




        NGS has revolutionized clinical microbiology by offering new ways to identify and surveil pathogens without prior knowledge of the target. One popular approach is 16S rRNA and ITS amplicon sequencing, which targets specific microbial markers. But studies are increasingly incorporating shotgun metagenomics, a technique that sequences all DNA from a sample without targeting specific microbial markers. This approach allows more detailed taxonomic classification, detection...
        Today, 06:46 AM
      • SEQadmin2
        Multiomic Liquid Biopsy: What DNA/RNA Panels Reveal That DNA Alone Can’t
        by SEQadmin2



        Tumors contain complex mixtures of cell populations that evolve in response to treatment and host-specific factors. Tissue biopsies provide only static snapshots of a tumor’s state. But what if we could follow that evolution over time using a minimally invasive technique?

        Liquid biopsies can detect tumor-derived material circulating in the bloodstream, providing a way to study treatment response, detect emerging resistance, and discover new biomarkers. Circulating
        ...
        10-14-2026, 09:55 AM

      ad_right_rmr

      Collapse

      News

      Collapse

      Topics Statistics Last Post
      Started by SEQadmin2, 10-28-2026, 09:57 AM
      0 responses
      24 views
      0 reactions
      Last Post SEQadmin2  
      Started by SEQadmin2, 10-28-2026, 09:51 AM
      0 responses
      15 views
      0 reactions
      Last Post SEQadmin2  
      Started by SEQadmin2, 10-22-2026, 11:13 AM
      0 responses
      68 views
      0 reactions
      Last Post SEQadmin2  
      Started by SEQadmin2, 10-22-2026, 10:48 AM
      0 responses
      48 views
      0 reactions
      Last Post SEQadmin2  
      Working...