Unconfigured Ad

Collapse
X
 
  • Time
  • Show
Clear All
new posts
  • ksw9
    Member
    • May 2013
    • 32

    #1

    MarkDuplicates for heterozygous variant calling

    Hi,
    My goal is to conduct variant calling and phase variants using samtools v 1.0 and HAPCUT.

    I was wondering what is the appropriate way to deal with PCR/optical duplicates if the goal is variant calling in a heterozygous sample? I was using Picard Suite's MarkDuplicates and removing duplicates, but does this identify duplicates as those read pairs with identical external coordinates? Because this would then preclude calling heterozygous variants, correct? Is there a better approach for removing only reads which have identical external coordinates AND have exactly the same sequence?

    Thank you!

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, Yesterday, 11:13 AM
0 responses
17 views
0 reactions
Last Post SEQadmin2  
Started by SEQadmin2, Yesterday, 10:48 AM
0 responses
18 views
0 reactions
Last Post SEQadmin2  
Started by SEQadmin2, 10-15-2026, 10:52 AM
0 responses
36 views
0 reactions
Last Post SEQadmin2  
Started by SEQadmin2, 10-14-2026, 05:39 AM
0 responses
42 views
0 reactions
Last Post SEQadmin2  
Working...