Seqanswers Leaderboard Ad

Collapse

Announcement

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

  • GATK variant calling statistics...

    Hi all,
    We are calling variants on partial exome data using GATK. We want to see what fraction of our samples have a particular variant. As constituted, GATK will give us the set of samples containing the particular variant. Any sample that doesn't will simply exclude it from the VCF. My question is whether or not there is a way to distinguish the samples that have a true wild-type phenotype (and thus no variant call) from those that aren't called due to poor quality score (and thus should be excluded from our percentages since the phenotype cannot be determined). Thank you very much in advance for your help.

  • #2
    There are two ways to deal with this. One is to use the EMIT_ALL_SITES option of UnifiedGenotyper and enable calculation of reference PLs. The other, which is better, is to call variants with HalpotypeCaller (GATK's newer variant caller) and use the -ERC option to generate a gVCF.

    For more details, see the online GATK documentation and please post any follow-up questions on the GATK support forum.


    Comment

    Latest Articles

    Collapse

    • seqadmin
      Essential Discoveries and Tools in Epitranscriptomics
      by seqadmin


      The field of epigenetics has traditionally concentrated more on DNA and how changes like methylation and phosphorylation of histones impact gene expression and regulation. However, our increased understanding of RNA modifications and their importance in cellular processes has led to a rise in epitranscriptomics research. “Epitranscriptomics brings together the concepts of epigenetics and gene expression,” explained Adrien Leger, PhD, Principal Research Scientist on Modified Bases...
      Today, 07:01 AM
    • seqadmin
      Current Approaches to Protein Sequencing
      by seqadmin


      Proteins are often described as the workhorses of the cell, and identifying their sequences is key to understanding their role in biological processes and disease. Currently, the most common technique used to determine protein sequences is mass spectrometry. While still a valuable tool, mass spectrometry faces several limitations and requires a highly experienced scientist familiar with the equipment to operate it. Additionally, other proteomic methods, like affinity assays, are constrained...
      04-04-2024, 04:25 PM

    ad_right_rmr

    Collapse

    News

    Collapse

    Topics Statistics Last Post
    Started by seqadmin, 04-11-2024, 12:08 PM
    0 responses
    37 views
    0 likes
    Last Post seqadmin  
    Started by seqadmin, 04-10-2024, 10:19 PM
    0 responses
    41 views
    0 likes
    Last Post seqadmin  
    Started by seqadmin, 04-10-2024, 09:21 AM
    0 responses
    35 views
    0 likes
    Last Post seqadmin  
    Started by seqadmin, 04-04-2024, 09:00 AM
    0 responses
    54 views
    0 likes
    Last Post seqadmin  
    Working...
    X