Added first iteration of PhasedPanelEvaluation with PanGeniePanelCreation and refactored phasing pipeline. #20
Add this suggestion to a batch that can be applied as a single commit.
This suggestion is invalid because no changes were made to the code.
Suggestions cannot be applied while the pull request is closed.
Suggestions cannot be applied while viewing a subset of changes.
Only one suggestion per line can be applied in a batch.
Add this suggestion to a batch that can be applied as a single commit.
Applying suggestions on deleted lines is not supported.
You must change the existing code in this line in order to create a valid suggestion.
Outdated suggestions cannot be applied.
This suggestion has been applied or marked resolved.
Suggestions cannot be applied from pending reviews.
Suggestions cannot be applied on multi-line comments.
Suggestions cannot be applied while the pull request is queued to merge.
Suggestion cannot be applied right now. Please check back later.
Closes #4.
Closes #5.
This gets us most of the way through #1. See TODOs added there.
See a complete HPRC-only run evaluating over HG002 here: https://app.terra.bio/#workspaces/broad-firecloud-dsde/lrma-aou1-panel-creation-hprc-only/job_history/8c9cd513-ce20-479b-9fde-7e48adf5c374
This roughly automatically replicates the last slide of this deck (which was run manually for AoU+HPRC): https://docs.google.com/presentation/d/1jwCQCQo8_Nrwre-dQASmeSmsyhD9DjMASe4LMgfQ3uQ/edit?usp=sharing We see pretty much all of the same patterns, although the numbers slightly differ.
Note that the drop in recall in the last VCF (produced by PanGeniePanelCreation) is a good enough indicator of remaining overlap issues now (since the PanGenie script removes an entire allele if it is found to overlap in any one sample).
Both vcfdist and phasing pipelines were cleaned up (mostly for style) and renamed/moved. Probably could do with another round or two.