Genome Analysis Toolkit

Variant Discovery in High-Throughput Sequencing Data

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Developed in the Data Sciences Platform at the Broad Institute, the toolkit offers a wide variety of tools with a primary focus on variant discovery and genotyping. Its powerful processing engine and high-performance computing features make it capable of taking on projects of any size. Learn more

Base Quality Score Recalibration (BQSR) Follow

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    Nickier

    How to set a COMPRESSION_LEVEL of ApplyBQSR, I found that the output  bam file is twice the size of the original bam file while the the original bam is COMPRESSION_LEVEL=2

     
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    cali

    gatk ApplyBQSR \
    --java-options "-Xmx6G -Dsamjdk.compression_level=5" \
    -R $ref \
    -I $bam_in \
    --bqsr-recal-file $table \
    -L $contig \
    -O $bam_out

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    Yiguan Wang

    Currently working on Drosophila genomes, there isn't a known list of variants. Just wondering how to perform bootstrap to generate a set of known variants, is there a pipeline about that? Thanks in advance!

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    Adrián Segura

    Hi I have a question. In the description of this process, the BaseRecalibrator tool requires databases of known polymorphisms to recalibrate the quality of the bases. As explained in this document, any changes with respect to these references (dbSNP, gnomAD, ...) are considered an error, is this not counterproductive for the detection of somatic variants in tumor samples? Shouldn't I then provide in BaseRecalibrator also data from COSMIC or some other specialized databases on somatic mutations?

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    Joanna

    Hi all, 

    I have a question if in the case of Canis lupus familiaris (DOG) the BQSR is needed?

    Thanks in advance!

    Joanna

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