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feat: adding GERP conservation score to variant annotation #933

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merged 5 commits into from
Nov 27, 2024

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DSuveges
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✨ Context

GERP conservation scores are easy to add as annotation to the variant set. We already have GERP bw file for the loftee prediction, so just one more line in the VEP command was necessary.

This PR contains:

  • updated VEP schema that captures conservation.
  • updated parser extract conservation score.
  • updated in silico score normalisation logic to scale GERP scores between -1 to +1

) -> Column:
"""Normalise GERP scores.

# Score interpration from here:
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@project-defiant project-defiant Nov 27, 2024

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interpretation

@project-defiant project-defiant merged commit 19219dd into dev Nov 27, 2024
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@DSuveges DSuveges deleted the ds_vep_conservation branch November 28, 2024 11:37
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2 participants