Unconfigured Ad

Collapse
X
 
  • Filter
  • Time
  • Show
Clear All
new posts
  • Pinko
    Junior Member
    • Feb 2012
    • 1

    Asymmetric variant score quality distribution

    I've called WGS Drosophila variants using GATK UnifiedGenotyper.

    My problem is that the distribution of the quality scores is very asymmetrical, effectively with one very high peak of comparatively low quality and one secondary peak of greater quality.

    I don't strictly know if this a cause for concern but it really doesn't look right to me.

    My read mapping pipeline includes removal of adaptors and low-quality bases, and local re-alignment. The variant call quality scores are from four individuals with an average of 30X coverage.

    Any advice on whether I should be concerned and what I might be able to do to correct this would be much appreiciated.
    Attached Files
  • aeonsim
    Member
    • Jun 2011
    • 46

    #2
    I believe that's normal, it's similar to what we usually see when sequencing. I've never pull investigated the cause of it but I suspect it may be due to score differences between Heterozygous and Homozygous variants with possible some impact with read depth & structural duplications.

    Remember QUAL score is simply an indicator of the probability that there is a Variant at that position (not if the variant is correct) and thus it is affected by Read Depth and a Homozygous variant will usually have 2x the number of Variant support reads at the same coverage as a Heterozygous Variant.

    Comment

    Latest Articles

    Collapse

    • SEQadmin2
      Advanced Sequencing Platforms Tackle Neuroscience’s Toughest Genomics Problems
      by SEQadmin2



      Genomics studies in neuroscience face a special challenge due to the brain’s complexity and scarcity of samples. Mapping changes in cell type and state using conventional next-generation sequencing methods remains challenging. Advances in technologies like single-cell sequencing, spatial transcriptomics, and long-read sequencing have opened the door to deeper studies of the brain and diseases like Alzheimer’s, amyotrophic lateral sclerosis (ALS), and schizophrenia.
      ...
      Yesterday, 11:10 AM
    • SEQadmin2
      Cancer Drug Resistance: The Lingering Barrier to Rising Survival
      by SEQadmin2



      Cancer survival rates have significantly increased in the last few decades in the United States, reaching a combined 70% 5-year survival rate by 2021. Behind this number, there are years of research to find new therapies, drug targets, and early detection methods. But there is one core challenge that keeps slowing down these advances, and it’s about drug resistance.

      There is no single reason why many patients don’t respond to treatment as expected. Cancer is...
      07-08-2026, 05:17 AM
    • GATTACAT
      Reply to Nine Things a Sample Prep Scientist Thinks About Before Sequencing
      by GATTACAT
      Love this - good data definitely starts from good input, and poor input can only give relatively poor data. I particularly like the mention of Nanodrop/absorbance based methods for quantification. It's such a toss up if you'll get an accurate reading or what amounts to a randomly generated number, and a lot of library/sequencing related issues can be traced back to poor quant.
      07-01-2026, 11:43 AM

    ad_right_rmr

    Collapse

    News

    Collapse

    Topics Statistics Last Post
    Started by SEQadmin2, Yesterday, 10:04 AM
    0 responses
    10 views
    0 reactions
    Last Post SEQadmin2  
    Started by SEQadmin2, 07-08-2026, 10:08 AM
    0 responses
    7 views
    0 reactions
    Last Post SEQadmin2  
    Started by SEQadmin2, 07-07-2026, 11:05 AM
    0 responses
    15 views
    0 reactions
    Last Post SEQadmin2  
    Started by SEQadmin2, 07-02-2026, 11:08 AM
    0 responses
    31 views
    0 reactions
    Last Post SEQadmin2  
    Working...