Unconfigured Ad

Collapse
X
 
  • Filter
  • Time
  • Show
Clear All
new posts
  • mschizas
    Junior Member
    • Jan 2012
    • 1

    Problem with GATK ReadBackedPhasing

    Hello,

    I want to use ReadBackedPhasing module of GATK on my data, but I have a problem which I think is beacuse in my bam file I have both records from BWA aligner and Novoalign. Just as a reminder, this is the command to run ReadBackedPhasing:

    java
    -jar GenomeAnalysisTK.jar
    -T ReadBackedPhasing
    -R reference.fasta
    -I reads.bam <--- Input seq BAM file
    --variant SNPs.vcf <--- SNP VCF file
    -L Chr.list
    -o phased_SNPs.vcf
    --phaseQualityThresh 20.0

    So when I try to run ReadBackedPhasing the output contains very few results because it crashed. I assume that happens when it hits a novoalign record in the bam file. An example of two records(one from BWA and the other from Novoalign) in the same bam file is shown below:

    1)HWI-ST395_B80MA2ABXX_1:6:6:3197:146608#0 99 chrM 4874 60 104M = 5329 559 AACTAGCCCCCATCTCAATCATATACCAAATCTCTCCCTCACTAAACGTAAGCCTTCTCCTCACTCTCTCAATCTTATCCATCATAGCAGGCAGT
    TGAGGTGGA
    ..fastq seq...
    X0:i:1 X1:i:0 MD:Z:104 RG:Z:2_2-600-1st XG:i:0 AM:i:37 NM:i:0 SM:i:37 XM:i:0 XO:i:0 XT:A:U

    2)HWI-ST395_B81AMYABXX_0:1:65:18036:20406#0 99 chrM 4874 150 2S93M9S = 2384 -2430 NNAACTAGCCCCCATCTCAATCATATACCAAATCTCTCCCTCACTAAACGTAAGCCTTCTCCTCACTCTCTCAATCTTATCCATCATAGCAGGCA
    GTTGAGGTG
    ..fastq seq..
    MD:Z:93 PG:Z:novoalign.23 RG:Z:2_2-MP-novoalign AM:i:150 NM:i:0 SM:i:150 ZO:Z:-+ PQ:i:245 UQ:i:66 AS:i:66

    The difference is that even though both are in SAM format, Novoalign uses different flags which might cause this problem. If you could please help me, I would greatly appreciate it. Also would you suggest a way to convert Novoalign's SAM file into a regular SAM file with the proper flags?

    Thanks a lot,
    Mike
  • ymc
    Senior Member
    • Mar 2010
    • 496

    #2
    My experience with ReadBackedPhasing is to run it without --variant SNPs.vcf

    I find that when I ran with it, it took forever and then crashed at the end.

    Without --variant SNPs.vcf, it can run to completion and it seems to me the result is ok.

    Comment

    Latest Articles

    Collapse

    • SEQadmin2
      Nine Things a Sample Prep Scientist Thinks About Before Sequencing
      by SEQadmin2


      I’m not a sequencing expert. I’m a purification scientist who uses NGS to evaluate workflows my group develops. With this perspective, we think about the sample first and the NGS workflow second. The sequencer is an exceptionally honest reporter, but it can only report on what you give it, so whether you get clean, interpretable data from an NGS workflow is largely determined before you begin.


      Here are nine questions we think about, in roughly the order they matter, before...
      06-18-2026, 07:11 AM
    • SEQadmin2
      From Collection to Sequencing: Why Sample Preparation and Preservation Define Sequencing Data
      by SEQadmin2


      Data variability is still an issue in sequencing technologies despite the advances in reproducibility and accuracy of these platforms. But the problem does not originate in the sequencing itself, but in the previous steps, before the sample reaches the sequencer.


      The first step is collection, followed by preservation and sample preparation for analysis. Most scientists overlook those steps, but not being careful might just be skewing the experiment’s results.
      ...
      06-02-2026, 10:05 AM

    ad_right_rmr

    Collapse

    News

    Collapse

    Topics Statistics Last Post
    Started by SEQadmin2, 06-17-2026, 06:09 AM
    0 responses
    30 views
    0 reactions
    Last Post SEQadmin2  
    Started by SEQadmin2, 06-09-2026, 11:58 AM
    0 responses
    79 views
    0 reactions
    Last Post SEQadmin2  
    Started by SEQadmin2, 06-05-2026, 10:09 AM
    0 responses
    90 views
    0 reactions
    Last Post SEQadmin2  
    Started by SEQadmin2, 06-04-2026, 08:59 AM
    0 responses
    88 views
    0 reactions
    Last Post SEQadmin2  
    Working...