Unconfigured Ad

Collapse
X
 
  • Time
  • Show
Clear All
new posts
  • jeffseq
    Junior Member
    • Mar 2013
    • 9

    #1

    How to write in VCF file for a deletion that occurs at position 1?

    If a deletion happens at position 2, (like T below), in VCF, it is writen:

    POS REF ALT
    1 AT A

    what if at position 1, A is deleted, how to record it in VCF?
    Thanks!

    Jeff
  • jeffseq
    Junior Member
    • Mar 2013
    • 9

    #2
    any clue? who can I refer this to?

    Comment

    • westerman
      Rick Westerman
      • Jun 2008
      • 1104

      #3
      Well, looking at the 1000genomes page on VCF they say [emphasis mine]:

      REF reference base(s): Each base must be one of A,C,G,T,N (case insensitive). Multiple bases are permitted. The value in the POS field refers to the position of the first base in the String. For simple insertions and deletions in which either the REF or one of the ALT alleles would otherwise be null/empty, the REF and ALT Strings must include the base before the event (which must be reflected in the POS field), unless the event occurs at position 1 on the contig in which case it must include the base after the event; this padding base is not required (although it is permitted) for e.g. complex substitutions or other events where all alleles have at least one base represented in their Strings. If any of the ALT alleles is a symbolic allele (an angle-bracketed ID String "<ID>") then the padding base is required and POS denotes the coordinate of the base preceding the polymorphism. Tools processing VCF files are not required to preserve case in the allele Strings. (String, Required).

      Comment

      • jeffseq
        Junior Member
        • Mar 2013
        • 9

        #4
        Thanks!

        Does this mean if A at (poistion 1) is deleted, it should be recorded as

        POS REF ALT
        1 AT T

        ?

        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...
          10-30-2026, 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
        41 views
        0 reactions
        Last Post SEQadmin2  
        Started by SEQadmin2, 10-28-2026, 09:51 AM
        0 responses
        25 views
        0 reactions
        Last Post SEQadmin2  
        Started by SEQadmin2, 10-22-2026, 11:13 AM
        0 responses
        74 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...