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Article

Systematic evaluation of mobile element insertions in autosomal dominant hypercholesterolemia genes using short-read sequencing.

Atherosclerosis - 1 Jul 2026

Jeanpetit Lisa, Molitor Corentin, Janin Alexandre, Fonteille Annie, Bertoin Florence, Borel Anne Laure, Divry Eléonore, Chanavat Valérie, Nony Séverine, Simonet Thomas, Testard Quentin, Chatron Nicolas, Moulin Philippe, Charrière Sybil, Cariou Bertrand, Jourdy Yohann, Bardel Claire, Marmontel Oriane, Di Filippo Mathilde

Abstract excerpt

BACKGROUND AND AIMS: Autosomal dominant hypercholesterolemia (ADH) is a common monogenic disorder conferring markedly increased cardiovascular risk. While short-read next-generation sequencing (NGS) efficiently detects small nucleotide variants, it often misses mobile element insertions (MEIs), recently recognized as an additional pathogenic mechanism in LDLR-related ADH. This study aimed to systematically...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 42275762
DOI: 10.1016/j.atherosclerosis.2026.120809

Genes

LDLR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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