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@AnnaGreenOrebro, I saw your recent post asking whether Cyrius is planning to support targeted sequencing data. Have you tried PyPGx? I'm asking here because I didn't want to hijack the discussion :) |
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The main purpose of this discussion is to let people know that PyPGx supports targeted sequencing data (in addition to data from WGS, WES, SNP array, and long-read sequencing) for PGx genotyping including structural variation detection. For example, I recently published a paper where I applied PyPGx to the ClinPharmSeq data (ClinPharmSeq: A targeted sequencing panel for clinical pharmacogenetics implementation).
Relevant resources:
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