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pb-StarPhase v0.9.0
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@holtjma holtjma released this 04 Apr 20:47
· 37 commits to main since this release
v0.9.0
131d0e7
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Learn about vigilant mode.

This release primarily releases a beta version of the CYP2D6 caller for whole genome sequence datasets (targeted data support is planned for a future release). CYP2D6 is the most complicated gene in the pb-StarPhase call set. If you encounter any complicated diplotypes that you think pb-StarPhase is calling incorrect, please open an issue so we can resolve it!

Changes

  • Added the ability to store CYP2D6 variant information from PharmVar in our database
  • Released an updated database with CYP2D6 information
  • Added the ability to call CYP2D6 using the updated database and an aligned BAM file for WGS datasets
  • Added a CLI option to output realigned CYP2D6 segments to a small BAM file for IGV viewing and debugging
  • The version of pb-StarPhase is now recorded as the pbstarphase_version in the output JSON

Contributors

Special thanks to @jrharting, @xiao-chen-xc, and @PB-DB for assisting in formulating the CYP2D6 caller!

Contributors

jrharting, xiao-chen-xc, and PB-DB
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