Seqanswers Leaderboard Ad

Collapse

Announcement

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

  • Reading a vcf - genotypes

    Hi, I am trying to understand the genotype calls in my vcf, a trio.
    Looking at one variant of interest, the calls are:
    Dad Mum Kid
    0/2 2/1 1/1

    How can the kid be 1/1?
    The full information is:

    FORMAT
    GT:ADP:GQ:PL

    Dad
    0/2:9,3,0:16:19.63:134,0,98,27,20,47

    Mum
    145 2/1:8,4,0:20:15.38:197,15,52,44,0,41

    Child
    1/1:7,2,0:11:1.37:113,31,61,9,1,0


    Thanks for any help.

  • #2
    Note the GQ value, which is quite low for the child. You might consider filtering by quality.

    You will run into this sort of thing on occasion. The general causes are (1) sequencing error (2) genotype call error (3) sample swap (this should be pretty obvious though) (4) non-paternity. The last one is more common than you would think (1-3% of cases where there's otherwise no dispute of paternity), though you'll again end up with a lot of sites like this.

    Comment

    Latest Articles

    Collapse

    • seqadmin
      Understanding Genetic Influence on Infectious Disease
      by seqadmin




      During the COVID-19 pandemic, scientists observed that while some individuals experienced severe illness when infected with SARS-CoV-2, others were barely affected. These disparities left researchers and clinicians wondering what causes the wide variations in response to viral infections and what role genetics plays.

      Jean-Laurent Casanova, M.D., Ph.D., Professor at Rockefeller University, is a leading expert in this crossover between genetics and infectious...
      Today, 10:59 AM
    • seqadmin
      Addressing Off-Target Effects in CRISPR Technologies
      by seqadmin






      The first FDA-approved CRISPR-based therapy marked the transition of therapeutic gene editing from a dream to reality1. CRISPR technologies have streamlined gene editing, and CRISPR screens have become an important approach for identifying genes involved in disease processes2. This technique introduces targeted mutations across numerous genes, enabling large-scale identification of gene functions, interactions, and pathways3. Identifying the full range...
      08-27-2024, 04:44 AM

    ad_right_rmr

    Collapse

    News

    Collapse

    Topics Statistics Last Post
    Started by seqadmin, 09-06-2024, 08:02 AM
    0 responses
    13 views
    0 likes
    Last Post seqadmin  
    Started by seqadmin, 09-03-2024, 08:30 AM
    0 responses
    18 views
    0 likes
    Last Post seqadmin  
    Started by seqadmin, 08-27-2024, 04:40 AM
    0 responses
    25 views
    0 likes
    Last Post seqadmin  
    Started by seqadmin, 08-22-2024, 05:00 AM
    0 responses
    387 views
    0 likes
    Last Post seqadmin  
    Working...
    X