Unconfigured Ad

Collapse
X
 
  • Time
  • Show
Clear All
new posts
  • Ghani
    Junior Member
    • Jul 2017
    • 2

    #1

    Hetrozygous / Homozygous variant ratio humans

    Hi everyone,

    Does anyone have an idea what the het/hom variant ratio is for humans?

    Is 0.7-1 reasonable depending on population for WGS

    For example, here is what I got with my GATK pipeline:

    Sample 1 (E European)

    1- After BQSR- 1.03
    2- After HaplotypeCaller- 0.73
    3- After VQSR- 0.72


    Sample 2 (Siberian):

    1- After BQSR- 1.32
    2- After HaplotypeCaller- 1.0
    3- After VQSR - 0.99


    Just trying to gauge whether my filtering is too aggressive and that I am filtering out too many true positive SNPs.

    With regards to novel SNPs:

    Sample 1:
    1- After BQSR- 10%
    2- After VQSR- 1%

    Sample 2:

    Same as sample 1

Latest Articles

Collapse

  • SEQadmin2
    16S/ITS Profiling vs. Shotgun Metagenomics: What Changes in Your Workflow?
    by SEQadmin2




    NGS has revolutionized clinical microbiology by offering new ways to identify and surveil pathogens without prior knowledge of the target. One popular approach is 16S rRNA and ITS amplicon sequencing, which targets specific microbial markers. But studies are increasingly incorporating shotgun metagenomics, a technique that sequences all DNA from a sample without targeting specific microbial markers. This approach allows more detailed taxonomic classification, detection...
    Today, 06:46 AM
  • 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

ad_right_rmr

Collapse

News

Collapse

Topics Statistics Last Post
Started by SEQadmin2, 10-28-2026, 09:57 AM
0 responses
24 views
0 reactions
Last Post SEQadmin2  
Started by SEQadmin2, 10-28-2026, 09:51 AM
0 responses
15 views
0 reactions
Last Post SEQadmin2  
Started by SEQadmin2, 10-22-2026, 11:13 AM
0 responses
68 views
0 reactions
Last Post SEQadmin2  
Started by SEQadmin2, 10-22-2026, 10:48 AM
0 responses
48 views
0 reactions
Last Post SEQadmin2  
Working...