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Issue with Glow liftOver function #97

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habeggel opened this issue Dec 6, 2019 · 0 comments · Fixed by #100
Closed

Issue with Glow liftOver function #97

habeggel opened this issue Dec 6, 2019 · 0 comments · Fixed by #100

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@habeggel
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habeggel commented Dec 6, 2019

Overall, the Glow liftOver function seems to work as expected, but there is an issue when the REF/ALT alleles are swapped. Below is an example:

VCF entry:
22 16849933 . C T . . .

Output from running Picard LiftoverVcf (see details below):
22 16369271 . T C . PASS OriginalContig=22;OriginalStart=16849933;SwappedAlleles

Output after running the Glow liftOver:

val df_liftOver = Glow.transform("lift_over_variants", df_b37, Map("reference_file" -> referencePath, "chain_file" -> chain)).drop("genotypes")

Screen Shot 2019-12-06 at 11 31 33 AM

It appears that the Glow liftOver fails due to a “MismatchedRefAllele”.

However, the desired behavior would be as follows:

  • Liftover the site to the new genomic coordinates (22:16369271)
  • Swap the reference and alternate alleles
  • Set INFO_SwappedAlleles to ‘true’
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