Unconfigured Ad

Collapse
X
 
  • Time
  • Show
Clear All
new posts
  • lethalfang
    Member
    • Aug 2011
    • 95

    #1

    Trying to make use of JointSNVMix2's output

    I am testing JointSNVMix2 and used the joint_snv_mix_two workflow:

    Code:
    python jsm.py classify joint_snv_mix_two \
    /PATH/references/human_g1k_v37_decoy.fasta \
    /PATH/Normal_Sample.bam \
    /PATH/Tumor_Sample.bam \
    /PATH/trained.exome.parameter.cfg \
    /PATH/exome.jointsnvmix2.tsv
    It has an output for every single chromosome coordinate, so I tried to screen for somatic mutation calls:

    Code:
    cat exome.jointsnvmix2.tsv | awk -F "\t" '$10+$11>.99'

    And I get a bunch of things like this:


    Code:
    chrom	position	ref_base	var_base	normal_counts_a	normal_counts_b	tumour_counts_a	tumour_counts_b	p_AA_AA	p_AA_AB	p_AA_BB	p_AB_AA	p_AB_AB	p_AB_BB	p_BB_AA	p_BB_AB	p_BB_BB
    
    1	12907379	T	C	156	12	125	24	0.0000	1.0000	0.0000	0.0000	0.0000	0.0000	0.0000	0.0000	0.0000
    1	12907380	C	A	156	10	128	24	0.0000	1.0000	0.0000	0.0000	0.0000	0.0000	0.0000	0.0000	0.0000
    1	16890771	G	A	237	12	267	25	0.0000	1.0000	0.0000	0.0000	0.0000	0.0000	0.0000	0.0000	0.0000
    1	16890800	A	T	53	2	44	8	0.0000	1.0000	0.0000	0.0000	0.0000	0.0000	0.0000	0.0000	0.0000
    1	16893070	C	T	466	34	457	39	0.0000	1.0000	0.0000	0.0000	0.0000	0.0000	0.0000	0.0000	0.0000
    All those have p_AA_AB (i.e., probability of AA genotype in normal --> AB genotype in tumor) of 1, but when you look at the counts, they hardly look like something with a somatic probability of 1.

    Is there a model in JointSNVMix (there are a few) that works better than this one?
    When you assign probability=1 for a bunch of sites with minimal evidence for somatic mutation, then this model for somatic mutation calling is useless for our sample.
    Last edited by lethalfang; 04-02-2014, 01:30 PM.

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...
    Yesterday, 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
29 views
0 reactions
Last Post SEQadmin2  
Started by SEQadmin2, 10-28-2026, 09:51 AM
0 responses
20 views
0 reactions
Last Post SEQadmin2  
Started by SEQadmin2, 10-22-2026, 11:13 AM
0 responses
71 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...