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We need a set of tumour VCFs with known correct results to use as
regression tests.
This can't keep happening!
Lincoln
…On Fri, Aug 29, 2025 at 5:46 PM Greg Hogue ***@***.***> wrote:
It looks like the liftover logic was actually changed and broken at some
point after Wei's original/website code - and unfortunately that made its
way into the working copy used to start this repo.
Anyhow, the liftover process wasn't properly handling reverse-stranded
lifts, thereby causing a systemic -2 coordinate error, and more
concerningly yielding incorrect bases in these cases.
I've fixed this to the best of my knowledge and added more informative Liftover
warning stderr logs to help diagnose any related issues going forward.
These warnings are expected in cases where a base may have been changed
between hg19 and hg38 - in these situations the ALT most often matches the
hg19 reference.
------------------------------
You can view, comment on, or merge this pull request online at:
#5
Commit Summary
- 0c357c8
<0c357c8>
fix vcf liftover
File Changes
(1 file <https://github.com/LincolnSteinLab/DeepTumour/pull/5/files>)
- *M* src/utils.py
<https://github.com/LincolnSteinLab/DeepTumour/pull/5/files#diff-51246e53255db77c9edad496f074aa1bdbf8dbdc11f89a02040115c9ab4fa7f0>
(39)
Patch Links:
- https://github.com/LincolnSteinLab/DeepTumour/pull/5.patch
- https://github.com/LincolnSteinLab/DeepTumour/pull/5.diff
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Lincoln Stein (he/him/his)
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Ontario Institute for Cancer Research
Faculty Affiliate, Vector Institute
Professor, Molecular Genetics, University of Toronto
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It looks like the liftover logic was actually changed and broken at some point after Wei's original/website code - and unfortunately that made its way into the working copy used to start this repo.
Anyhow, the liftover process wasn't properly handling reverse-stranded lifts, thereby causing a systemic
-2coordinate error, and more concerningly yielding incorrect bases in these cases.I've fixed this to the best of my knowledge and added more informative
Liftover warningstderr logs to help diagnose any related issues going forward.These warnings are expected in cases where a base may have been changed between hg19 and hg38 - in these situations the ALT most often matches the hg19 reference.