Showing docs for version 3.6-0 | The latest version is 4.1.4.0


HomopolymerRun

Largest contiguous homopolymer run of the variant allele

Category Annotation Modules

VCF Field INFO (variant-level)

Type ExperimentalAnnotation

Header definition line
  • INFO=<ID=HRun,Number=1,Type=Integer,Description="Largest Contiguous Homopolymer Run of Variant Allele In Either Direction">

  • Overview

    Repetitive sequences such as homopolymers are difficult to map to the reference because they are associated with multiple alignment possibilities. The proximity of a long homopolymer to your variant site increases the chance that reads were mapped incorrectly in the surrounding region and lowers confidence in the call. If there is a homopolymer on either side of a site, this annotation outputs the length of its largest run.

    Caveats

    • This can only be computed for bi-allelic sites.
    • The calculation only looks at direct runs of the alternate allele adjacent to this position, which is not a very accurate method.
    • This is an experimental annotation. As such, it is unsupported; we do not make any guarantees that it will work properly, and you use it at your own risk.

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    GATK version 3.6-0-g89b7209 built at 2017/02/09 12:52:48.