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Handling complex scoring files #82

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smlmbrt opened this issue Feb 27, 2024 · 0 comments
Open

Handling complex scoring files #82

smlmbrt opened this issue Feb 27, 2024 · 0 comments
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enhancement New feature or request

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@smlmbrt
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smlmbrt commented Feb 27, 2024

Currently combine_scorefiles will include complex variants (CNVs, HLA, APOE, etc) but they will fail matching. We should perhaps add a flag to this script that drops scores with:

  • variants that can't be represented in matching (e.g. is_haplotype is_diplotype)
  • variants that have an non-null inclusion_criteria columns

as these scores are unlikely to be faithfully calculated within pgsc_calc. Perhaps we should also tabulate variant missingness as a % of sum(weights) missing in addition to % of variants.

@smlmbrt smlmbrt added the enhancement New feature or request label Feb 27, 2024
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