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

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 de...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10003201/
https://www.ncbi.nlm.nih.gov/pubmed/36901902
http://dx.doi.org/10.3390/ijms24054471

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10003201/
https://www.ncbi.nlm.nih.gov/pubmed/36901902
http://dx.doi.org/10.3390/ijms24054471

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