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Automating the Clinical Interpretation of LDLR, APOB, and PCSK9 Variants: A Web-Based Platform for FH Diagnosis
2026-01-13
genetic and genomic medicine
Title + abstract only
View on medRxiv
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BackgroundClinical interpretation of LDLR, APOB, and PCSK9 variants is essential for diagnosing familial hypercholesterolemia (FH), yet manual evidence curation is labor-intensive and prone to variability. MethodsWe developed a web-based platform (https://fh-interpret.shinyapps.io/beta/) to automate the synthesis of multi-dimensional evidence. The tool integrates population frequencies (gnomAD), phenotype associations (UK Biobank), AI-based pathogenicity scores (AlphaMissense), high-throughput ...
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