mskcc / tempo

CCS research pipeline to process WES and WGS TN pairs
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Enhancement/ Annotate and filter merged SV calls #930

Closed anoronh4 closed 2 years ago

anoronh4 commented 2 years ago

1) Add unique ID to each structural variant in the merged VCF 2) Generate annotations using AnnotSV before merging with Bedpe 3) Filter sequence features (currently RepeatMasker and Encode's DAC mappability blacklist) 4) Identify splicing deletions and filter variants if they are believed to be from spliced cDNA.

Updated Docker image includes svtools, AnnotSV, and custom scripts for filtering and cDNA contamination.

To-do:

anoronh4 commented 2 years ago

I am thinking to leave AnnotSV as a separate file until we figure out all it's behaviors and how to extract what we want. For now there are some issues such as TRA/BND events not being annotated as expected.