Design and performance of a long-read sequencing panel for pharmacogenomics
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 Joachim Swen
The paper presents a long-read sequencing panel for pharmacogenomics, achieving high accuracy and phasing for SNVs and clinical star(*)-alleles.
bioRxiv · Oct 25, 2022 · PreprintGenetics