Article

Automating the Clinical Interpretation of <i>LDLR, APOB</i> , and <i>PCSK9</i> Variants: A Web-Based Platform for FH Diagnosis

2026-01-13

Abstract excerpt

<h4>Background</h4> Clinical 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. <h4>Methods</h4> We developed a web-based platform ( https://fh-interpret.shinyapps.io/beta/ ) to automate the synthesis of multi-dimensional evidence. The tool integrates population frequencies...

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Literature Corpus work: e3aae60d-62fd-5a8b-866c-f6fd2c53b893
DOI: 10.64898/2026.01.10.26343831

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