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Helena Bioinformatics
helena.bio
did:plc:bcpedzal3totzwme4kt2lu4h
How do you characterize a variant classifier's performance when qualified labs disagree on 25-35% of variants? Single-source ground truth isn't defensible; formal adjudication is out of reach for early-stage developers.
We built a framework for that:
#genomics #ACMG #variantinterpretation
https://doi.org/10.5281/zenodo.21105027
2026-07-02T12:37:04.924Z