Oxford Nanopore sequencing of pharmacogenomic (PGx) loci delivers unambiguous variant calling in a single assay

Overview

Featuring highly complex structural variants (SVs), pseudogene homology, and copy number variants (CNVs), pharmacogenomics (PGx) loci are incredibly challenging to resolve using conventional microarrays or short-read sequencing. Oxford Nanopore sequencing provides the solution to resolve these complexities, by providing any-length reads for calling all variants in a single assay, via an accessible, scalable platform.

In this PGx research focus, discover highlighted publications that show how researchers are taking advantage of this technology, focusing on targeted analysis through either sample prep-based enrichment, or adaptive sampling.