TrinityCTAT / ctat-mutations

Mutation detection using GATK4 best practices and latest RNA editing filters resources. Works with both Hg38 and Hg19
https://github.com/TrinityCTAT/ctat-mutations
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repeat element and exon splice adjacency annotation utilities added #25

Closed brianjohnhaas closed 5 years ago

brianjohnhaas commented 5 years ago

annotations are added to vcf for repeat element overlap (ex. alu elements) and for splice site adjacency.