Seqanswers Leaderboard Ad

Collapse

Announcement

Collapse
No announcement yet.
X
 
  • Filter
  • Time
  • Show
Clear All
new posts

  • 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

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

    Comment


    • #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


      • #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

        • seqadmin
          Advancing Precision Medicine for Rare Diseases in Children
          by seqadmin




          Many organizations study rare diseases, but few have a mission as impactful as Rady Children’s Institute for Genomic Medicine (RCIGM). “We are all about changing outcomes for children,” explained Dr. Stephen Kingsmore, President and CEO of the group. The institute’s initial goal was to provide rapid diagnoses for critically ill children and shorten their diagnostic odyssey, a term used to describe the long and arduous process it takes patients to obtain an accurate...
          12-16-2024, 07:57 AM
        • seqadmin
          Recent Advances in Sequencing Technologies
          by seqadmin



          Innovations in next-generation sequencing technologies and techniques are driving more precise and comprehensive exploration of complex biological systems. Current advancements include improved accessibility for long-read sequencing and significant progress in single-cell and 3D genomics. This article explores some of the most impactful developments in the field over the past year.

          Long-Read Sequencing
          Long-read sequencing has seen remarkable advancements,...
          12-02-2024, 01:49 PM

        ad_right_rmr

        Collapse

        News

        Collapse

        Topics Statistics Last Post
        Started by seqadmin, 12-17-2024, 10:28 AM
        0 responses
        26 views
        0 likes
        Last Post seqadmin  
        Started by seqadmin, 12-13-2024, 08:24 AM
        0 responses
        42 views
        0 likes
        Last Post seqadmin  
        Started by seqadmin, 12-12-2024, 07:41 AM
        0 responses
        28 views
        0 likes
        Last Post seqadmin  
        Started by seqadmin, 12-11-2024, 07:45 AM
        0 responses
        42 views
        0 likes
        Last Post seqadmin  
        Working...
        X