Genome Analysis Toolkit

Variant Discovery in High-Throughput Sequencing Data

GATK process banner

Need Help?

Search our documentation

Community Forum

Hi, How can we help?

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

has gatk consider Duke regions and CRG36mer

0

2 comments

  • Avatar
    that girl

    any response, thanks 

    0
    Comment actions Permalink
  • Avatar
    David Benjamin

    GATK tools account for mapping error.  There are many definitions of mappability, most of which are reasonable.  I'm not familiar with the Duke regions but I can guess that the CRG36mer mappability of a region is related to the uniqueness (or the extent of non-uniqueness) of its 36-mers.  Given that sequencing reads these days are hardly ever smaller than 75 bases, this would not be an appropriate mappability to use.  Furthermore, paired-end reads are much more mappable than single-end reads so one much be careful about kmer mappability scores.

    0
    Comment actions Permalink

Please sign in to leave a comment.

Powered by Zendesk