Design and performance of a long-read sequencing panel for pharmacogenomics

Authors: Maaike van der Lee, Loes Busscher, Roberta Menafra, Qinglian Zhai, Redmar R. van den Berg, Sarah B Kingan, Nina Gonzaludo, Ting Hon, Ting Han, Leonardo Arbiza, Ibrahim Numanagić, Susan L. Kloet, Jesse J. Swen

Pharmacogenomics (PGx)-guided drug treatment is one of the cornerstones of personalized medicine. However, the genes involved in drug response are highly complex and known to carry many (rare) variants. Current technologies (short-read sequencing and SNP panels) are limited in their ability to resolve these genes and characterize all variants. Moreover, these technologies cannot always phase variants to their allele of origin. Recent advance in long-read sequencing technologies have shown promise in resolving these problems. Here we present a long-read sequencing panel-based approach for PGx using PacBio HiFi sequencing.

Journal: Biorxiv
DOI: 10.1101/2022.10.25.513646
Year: 2022

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