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Familial hypercholesterolemia – Targeted whole gene sequencing as a diagnostic approach

11 Dec 2024

Abstract excerpt

Familial hypercholesterolemia (FH) and other disorders with similar features are common genetic disorders that remain underdiagnosed and undertreated, due in part to the cost of screening. The aim of this study was to design and implement a whole gene targeted NGS panel for the molecular diagnosis of FH and statin intolerance with an emphasis on high quality variant calling, including copy number analysis. A...

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PMID: 39802654
DOI: 10.1016/j.athplu.2024.12.001

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