Test-drive the GATK tools and Best Practices pipelines on Terra

Check out this blog post to learn how you can get started with GATK and try out the pipelines in preconfigured workspaces (with a user-friendly interface!) without having to install anything.

Variant with great support not called.

This SNP has 30 reads supporting it with most of them being mapq60 and good fred scores.

using version 3.4-46-gbc02625
and my command was
java -jar ~/GenomeAnalysisTK.jar -R /mnt/opt/refdata/fasta/hg19/hg19.fa -I /mnt/park/gemcode/haynes/rfa/RFA_phaser5/_SNPINDEL_PHASER_BAM/ATTACH_SERAFIM/fork0/files/output.bam -T HaplotypeCaller --genotyping_mode DISCOVERY -L chr3:33100000-33300000 -stand_emit_conf 10 -stand_call_conf 30

Let me know if you want more info or want me to submit a detailed bug report with relevant files.


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