PGScatalog / pgscatalog_utils

(superseded by pygscatalog) Utilities for working with PGS Catalog API and scoring files
Apache License 2.0
4 stars 3 forks source link

Handling complex scoring files #82

Open smlmbrt opened 5 months ago

smlmbrt commented 5 months ago

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:

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.