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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

DRAGEN-GATK short variant calling

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    Pamela Bretscher

    Hi Heba B abusamra,

    I am going to move your post into our Community Discussions -> General Discussion topic, as the germline topic is for reporting bugs and issues with GATK.

    You can read more about our forum guidelines and the topics here: Forum Guidelines.

    Best,

    Pamela

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    Genevieve Brandt (she/her)

    Hi Heba B abusamra,

    Thanks for writing in about DRAGEN-GATK! We will releasing more documentation about how to use it within the next month. 

    We recommend that you use the Dragmap aligner when using the dragen parameters. It can be found here: https://github.com/Illumina/DRAGMAP

    You'll first want to build a hash table from your reference then run the alignment step. In GATK, you'll run the commands you wrote above with one change: in HaplotypeCaller, make sure to specify --dragen-mode true. Hope this helps!

    Best,

    Genevieve

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