Unconfigured Ad

Collapse
X
 
  • Time
  • Show
Clear All
new posts
  • AmitChaurasia
    Member
    • Jan 2013
    • 13

    #1

    Allele Frequency Reproducibility: An interesting observation

    Hi All,

    I have got an very interesting observation during troubleshooting of an experiment with patient sample as described below (I would like to have your opinion at each point before moving ahead to next point):

    The experiment is as follows:

    One FFPE and One Germline Sample (In duplicate) total 3 samples libraries have been prepared for targeted BRCA region. Duplicate Germline libraries have been started with same DNA input sample but processed simultaneously for library prep.

    The Observation:
    Say: FFPE as F1 library and
    Germline as G1 and G2 libraries

    FFPE Sample got two unique mutations reported:
    M1 and M2 for example with allele frequencies (34@ and 17%) respectively

    These M1 got 7% Allele frequency in G1 library;
    Query1: What do you thing this could be because of? (Please choose your answer before moving ahead to next sentence).

    Is it from cfDNA that frequency come into G1 library?

    Query2: If YES, but there is no mutation in G2 library although the input DNA was same? How...?

    Is there a contamination of G1 from F1 during library processing?

    Query3: If Yes, But there is no mutation M2 was found in G1 library. They why it is only M1 mutation is there in G1...?


    Guys, please suggest any idea on the hypothesis, what could have gone wrong...? Interesting...!
  • chenyudr
    Junior Member
    • Feb 2016
    • 9

    #2
    Are these three libraries captured by probes? If yes, they captured in one reaction or individually?

    Comment

    • AmitChaurasia
      Member
      • Jan 2013
      • 13

      #3
      Hi Chenyudr,

      These libraries are PCR based target amplification but UMI based.

      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, 10-15-2026, 10:52 AM
      0 responses
      16 views
      0 reactions
      Last Post SEQadmin2  
      Started by SEQadmin2, 10-14-2026, 05:39 AM
      0 responses
      21 views
      0 reactions
      Last Post SEQadmin2  
      Started by SEQadmin2, 10-13-2026, 09:56 AM
      0 responses
      22 views
      0 reactions
      Last Post SEQadmin2  
      Started by SEQadmin2, 10-09-2026, 11:14 AM
      0 responses
      27 views
      0 reactions
      Last Post SEQadmin2  
      Working...