Seqanswers Leaderboard Ad

Collapse

Announcement

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

  • Huge differences in variant calling between ExAC and 1000G

    Hi,

    I just performed my first variant calling on a Whole Exome Sequencing on 2 patients.
    I did the pipeline following the recommendations and good practice from GATK, and at the end, with a MAF of ~2-3% (I tried both) on 1000G and an inhouse vcf, I have for some gene a huge difference between 1000G that gives me a frequency of 0.004 for a gene (MUC6) and for the same ExAC in NFE gives me a 0.4. So that's huge.

    How can this difference could be possible?
    I looked for databases in internet and also in databases in txt to look for any errors, but it seems not very relevant.

    It is something sometimes happening?
    What is the credibility of that kind of measures? One database says "rare enough" and the other one says " common" !

    Best,

  • #2

    Comment


    • #3
      Hi Bukowski, thanks, we talked a bit about that in the group and I learned recently that it is highly polymorphic.
      Still though, how can this be possible to have 0.004 in a database and 0.4 on the other one? It's comparing 40% versus 0.4% ! That's more about that part that I have troubles.
      How ExAC and 1000G are built to have such differences in their references?

      best,

      Comment

      Latest Articles

      Collapse

      • seqadmin
        Non-Coding RNA Research and Technologies
        by seqadmin




        Non-coding RNAs (ncRNAs) do not code for proteins but play important roles in numerous cellular processes including gene silencing, developmental pathways, and more. There are numerous types including microRNA (miRNA), long ncRNA (lncRNA), circular RNA (circRNA), and more. In this article, we discuss innovative ncRNA research and explore recent technological advancements that improve the study of ncRNAs.

        Nobel Prize for MicroRNA Discovery
        This week,...
        Yesterday, 08:07 AM
      • 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, 10-02-2024, 04:51 AM
      0 responses
      92 views
      0 likes
      Last Post seqadmin  
      Started by seqadmin, 10-01-2024, 07:10 AM
      0 responses
      100 views
      0 likes
      Last Post seqadmin  
      Started by seqadmin, 09-30-2024, 08:33 AM
      1 response
      102 views
      0 likes
      Last Post EmiTom
      by EmiTom
       
      Started by seqadmin, 09-26-2024, 12:57 PM
      0 responses
      20 views
      0 likes
      Last Post seqadmin  
      Working...
      X