A phase-aware pharmacogenomic diplotyper for PacBio sequencing data
The pb-StarPhase tool will diplotype pharmacogenomic (PGx) genes from PacBio datasets. Key features include:
- Ability to create a database from latest CPIC and IMGTHLA information
- Ability to diplotype most genes from CPIC and as well as HLA-A, HLA-B, and CYP2D6
- Works on PacBio datasets from targeted and whole genome sequencing
Authors: Matt Holt, John Harting, Zev Kronenberg
Please note that pb-StarPhase is in early development. We are still tweaking the input and output file formats and making changes that can affect the behavior of the program.
If you notice any missing features, bugs, or need assistance with analyzing the output of pb-StarPhase, please don't hesitate to open a GitHub issue.
pb-StarPhase is a pre-release software intended for research use only and not for use in diagnostic procedures. While efforts were made to ensure that pb-StarPhase lives up to the quality that PacBio strives for, we make no warranty regarding this software.
As pb-StarPhase is not covered by any service level agreement or the like, please do not contact a PacBio Field Applications Scientists or PacBio Customer Service for assistance with any pb-StarPhase release. Please report all issues through GitHub instead. We make no warranty that any such issue will be addressed, to any extent or within any time frame.
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