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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information about SNV annotation #97

Open ConcettaDe4 opened 3 years ago

ConcettaDe4 commented 3 years ago

Hi!

I have run the CTAT pipeline on my samples. I have a couple of questions about the filtering and annotation steps:

  1. Considering the boosting method=none (hard filtering) why you did not consider indels? In addition, why did you consider only variants annotated in chromosomes? Why did you not include scaffolds?

  2. I was wondering why you did not include the gatk variantRecalibration step in the pipeline. I was wondering if it is because there is not yet available for RNA-seq the truth of data necessary for training and to obtain the VQSR and CNNScoreVariants.

  3. In addition I ran the pipeline giving as input files the vcf file and the bam file obtained from the gatk ApplyBQSR step with clipped overlapping read. I was wondering if during the step "PASS read annotations" all variants that are less than 6 bases from the ends of the reads are filtered out with the script annotate_PASS_reads.py.

Thank you for your help!

Concetta