Seqanswers Leaderboard Ad

Collapse

Announcement

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

  • dpryan
    replied
    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.

    Leave a comment:


  • Elsie
    started a topic Reading a vcf - genotypes

    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.

Latest Articles

Collapse

  • seqadmin
    Recent Developments in Metagenomics
    by seqadmin





    Metagenomics has improved the way researchers study microorganisms across diverse environments. Historically, studying microorganisms relied on culturing them in the lab, a method that limits the investigation of many species since most are unculturable1. Metagenomics overcomes these issues by allowing the study of microorganisms regardless of their ability to be cultured or the environments they inhabit. Over time, the field has evolved, especially with the advent...
    09-23-2024, 06:35 AM
  • 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...
    09-09-2024, 10:59 AM

ad_right_rmr

Collapse

News

Collapse

Topics Statistics Last Post
Started by seqadmin, Yesterday, 04:51 AM
0 responses
8 views
0 likes
Last Post seqadmin  
Started by seqadmin, 10-01-2024, 07:10 AM
0 responses
13 views
0 likes
Last Post seqadmin  
Started by seqadmin, 09-30-2024, 08:33 AM
0 responses
18 views
0 likes
Last Post seqadmin  
Started by seqadmin, 09-26-2024, 12:57 PM
0 responses
16 views
0 likes
Last Post seqadmin  
Working...
X