Machine-learning triage of LDLR variants of uncertain significance using predictor concordance and ACMG-aligned evidence mapping
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Updated
Apr 15, 2026 - Python
Machine-learning triage of LDLR variants of uncertain significance using predictor concordance and ACMG-aligned evidence mapping
Machine-learning triage of LDLR variants of uncertain significance using predictor concordance and ACMG-aligned evidence mapping
Open-source research prototype for FH variant triage from ClinVar, CSV, and annotated VCF data.
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