Automating the Clinical Interpretation of LDLR, APOB, and PCSK9 Variants: A Web-Based Platform for FH Diagnosis
Helene Gellert‐Kristensen, Tim Møller Eyrich, Stefan Stender
A Shiny web platform pulls together gnomAD frequencies, UK Biobank LDL-C associations, AlphaMissense, LDLR deep mutational scanning and ClinVar/HGMD to draft ACMG/AMP evidence for familial hypercholesterolemia variants.
medRxiv · Jan 13, 2026 · PreprintGenetic & Genomic Medicine✦ In-depth digest