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Modify DGV annotations to more general tab format to support complex SVs

Open zhemingfan opened this issue 3 years ago • 0 comments

Overview

Currently, the Summary module takes in a tab delimited file (similar to a .bed file) as the input. For future iterations, we want to change it to a MAVIS .tab file format so that more information is included.

  • [ ] Change support in summary from tab delimited file to MAVIS file format, rename DGV to "known_sv" as SVs from more databases will be added
  • [ ] Add column for support for frequency of which a variant is observed
  • [ ] Add unit tests for data that pulls from external and internal Nanpore databases (decide on TSV or VCF file formats to support)
  • [ ] Add unique ID support to delineate which dataset a call is from

zhemingfan avatar Feb 09 '22 20:02 zhemingfan