Calling and Phasing of Single-Nucleotide and Structural Variants of the LDLR Gene Using Oxford Nanopore MinION
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DOI: 10.3390/ijms24054471
Abstract: 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… read more here.
Keywords: oxford nanopore; gene using; calling phasing; structural variants ... See more keywords