Unconfigured Ad

Collapse
X
 
  • Time
  • Show
Clear All
new posts
  • lait
    Junior Member
    • Oct 2017
    • 1

    #1

    What is the best way to find denovo mutations in trios?

    I have around 100 trios for which WES was done.
    My goal is to find denovo mutations in the child associated with each trios.
    So first I will do the following steps:
    1 -Alignment to reference genome
    2 - marking duplicates
    3 - base recalibration
    4 - realigning indels
    5 - Haplotype caller per sample with the -ERC GVCF option (this will call the ReadBackedPhasing, correct?)
    6 - Joint genotyping
    7 - Varinat recalibration
    8 - Genotype refinement workflow, where pedegree information is used and de novos are annotated using VariantAnnotator.A

    1- Do you think thins workflow is efficient and best to find denovos ?
    2- Are the variants in the output vcf file produced after step 8 already phased ? (because ReadBackedPhasing was already used in step 5)
    3- Do I need to use PhaseByTransmission afterwards after step 8 ?

    Many thanks
  • lindenb
    Senior Member
    • Apr 2010
    • 143

    #2
    cross posted: https://www.biostars.org/p/279970/

    Comment

    Latest Articles

    Collapse

    • SEQadmin2
      Multiomic Liquid Biopsy: What DNA/RNA Panels Reveal That DNA Alone Can’t
      by SEQadmin2



      Tumors contain complex mixtures of cell populations that evolve in response to treatment and host-specific factors. Tissue biopsies provide only static snapshots of a tumor’s state. But what if we could follow that evolution over time using a minimally invasive technique?

      Liquid biopsies can detect tumor-derived material circulating in the bloodstream, providing a way to study treatment response, detect emerging resistance, and discover new biomarkers. Circulating
      ...
      10-14-2026, 09:55 AM
    • SEQadmin2
      New Genomics Technologies Take Aim at Long-Standing Limits
      by SEQadmin2


      Researchers using sequencing and genomics tools often have to make trade-offs. They can choose between speed or scale, short reads or long-range information, or targeted panels or a view of the whole transcriptome. New technologies that have been released this year are built to address those tough choices.

      We asked six companies the same four questions to learn about their latest products. The new technologies bring a lot to the table, including rethinking sequencing
      ...
      09-28-2026, 10:25 AM

    ad_right_rmr

    Collapse

    News

    Collapse

    Topics Statistics Last Post
    Started by SEQadmin2, 10-22-2026, 11:13 AM
    0 responses
    42 views
    0 reactions
    Last Post SEQadmin2  
    Started by SEQadmin2, 10-22-2026, 10:48 AM
    0 responses
    32 views
    0 reactions
    Last Post SEQadmin2  
    Started by SEQadmin2, 10-15-2026, 10:52 AM
    0 responses
    44 views
    0 reactions
    Last Post SEQadmin2  
    Started by SEQadmin2, 10-14-2026, 05:39 AM
    0 responses
    45 views
    0 reactions
    Last Post SEQadmin2  
    Working...