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Article

Calling and Phasing of Single-Nucleotide and Structural Variants of the LDLR Gene Using Oxford Nanopore MinION.

International journal of molecular sciences - 24 Feb 2023

Nazarenko Maria S, Sleptcov Aleksei A, Zarubin Aleksei A, Salakhov Ramil R, Shevchenko Alexander I, Tmoyan Narek A, Elisaphenko Eugeny A, Zubkova Ekaterina S, Zheltysheva Nina V, Ezhov Marat V, Kukharchuk Valery V, Parfyonova Yelena V, Zakian Suren M, Zakharova Irina S

Abstract excerpt

The LDLR locus has clinical significance for lipid metabolism, Mendelian familial hypercholesterolemia (FH), and common lipid metabolism-related diseases (coronary artery disease and Alzheimer's disease), but its intronic and structural variants are underinvestigated. The aim of this study was to design and validate a method for nearly complete sequencing of the LDLR gene using long-read Oxford Nanopore...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36901902
DOI: 10.3390/ijms24054471
PMCID: PMC10003201

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