Unconfigured Ad

Collapse
X
 
  • Filter
  • Time
  • Show
Clear All
new posts
  • satishkumar
    Junior Member
    • Nov 2010
    • 8

    GATK Based Variant calling STEPS

    Hello,

    I am working on putting together a workflow for calling variants using Haplotype called in GATK:

    The process follow I currently follow is as below:

    Mapping : BWA- MEM

    Picard :SORT SAM: java -jar /opt/NGSTools/picard-tools-1.118/SortSam.jar INPUT=clean.bam OUTPUT=samsorted.bam SORT_ORDER=coordinate VALIDATION_STRINGENCY=LENIENTAdd/Replace GroupsReOrderSAM

    ++++++++++++++++++

    GATK

    1) RealignerTargetCreator
    2) IndelRealigner
    3) HaplotypeCaller :
    java -jar /opt/NGSTools/GATK-3.2.2/GenomeAnalysisTK.jar -T HaplotypeCaller -R /home/data/GATK_test/gatk/ucsc.hg19.fasta -I realigned.bam -stand_call_conf 30 -stand_emit_conf 10 --min_base_quality_score 15 -o haplotype.raw.snps.indels.vcf

    +++++++++++++++++++++++++++++++++++++++++++++++

    Can any one help me to check if the above process flow looks good to determine variants (gene panel and exome based experiments)?

    Suggestion would be highly appreciated!
    Thanks,
    Satish
  • Elsie
    Member
    • Mar 2011
    • 85

    #2
    Dear Satish

    I think if you follow the guidelines given here (as you are focusing on GATK):

    then you cannot go wrong.
    Good luck.

    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
    44 views
    0 reactions
    Last Post SEQadmin2  
    Started by SEQadmin2, 06-05-2026, 10:09 AM
    0 responses
    51 views
    0 reactions
    Last Post SEQadmin2  
    Started by SEQadmin2, 06-04-2026, 08:59 AM
    0 responses
    51 views
    0 reactions
    Last Post SEQadmin2  
    Working...