Long-read Sequencing for Germline Pharmacogenomic Testing

Pharmacogenomic testing is increasingly available from clinical laboratories, and commonly employed technologies include multiplexed targeted genotyping for variants and genes with available clinical practice guidelines and short-read sequencing pharmacogenomic panels. However, the limitations of targeted genotyping and short-read sequencing include difficulty with interrogating homologous genes, characterizing structural variants, and the inability to phase identified variants into star (∗) alleles and diplotypes. These limitations have recently been overcome by the use of long-read sequencing platforms, which allow for full-gene characterization and comprehensive haplotype and diplotype calling for actionable genes implicated in interindividual drug response variability.