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fixes in criteria for inclusion and annotation#49

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Redmar-van-den-Berg merged 10 commits intoLUMC:mainfrom
AnnevdGrinten:main
Feb 10, 2026
Merged

fixes in criteria for inclusion and annotation#49
Redmar-van-den-Berg merged 10 commits intoLUMC:mainfrom
AnnevdGrinten:main

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@AnnevdGrinten
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  • include gene MPL in inclusion and annotation criteria
  • delete duplicate or deprecated rows in inclusion and annotation criteria
  • add protein_altering_variant in annotation criteria, this VEP consequence is given to some delins variants
  • change the annotation discard to likely benign for better understandabilty
  • ensure for each gene that criteria for (likely) pathogenic variants are included as well as how to annotate other variants (possible pathogenic or likely benign) (where appropriate)
  • for clarity, order the annotation criteria for a gene by pathogenicity (from pathogenic to likely benign) (where appropriate)

@Redmar-van-den-Berg Redmar-van-den-Berg merged commit d22f0cc into LUMC:main Feb 10, 2026
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2 participants