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TRUTH.TOTAL differs despite having used the same TRUTH SET #165

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robertzeibich opened this issue Oct 20, 2022 · 2 comments
Open

TRUTH.TOTAL differs despite having used the same TRUTH SET #165

robertzeibich opened this issue Oct 20, 2022 · 2 comments

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@robertzeibich
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robertzeibich commented Oct 20, 2022 •
edited

Do you know why the TRUTH.TOTAL differs despite having used the same TRUTH SET?

hap py output
@shinlin77
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Yes, I have that same question.

@opplatek
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opplatek commented Mar 13, 2024 •
edited

Same here. I tried:

  1. Run full GiaB HG002 (AshkenazimTrio/HG002_NA24385_son/NISTv4.2.1/GRCh38) as both the truth and the sample
  2. Run full GiaB HG002 (AshkenazimTrio/HG002_NA24385_son/NISTv4.2.1/GRCh38) as the truth and HG002 subset (1000 variants) as the sample.

I got a different TRUTH.TOTAL counts in the summary. However, the number of annotated variants in hap.py annotated output VCF is the same and is equal to the second test (full sample as the truth and subset as the sample).

However, it seems to apply only for vcfeval engine. With xcmp it seems to report the same numbers.

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@opplatek @shinlin77 @robertzeibich