Article
Long-read HiFi sequencing of NUDT15: Phased full-gene haplotyping and pharmacogenomic allele discovery.
Human mutation - 1 Nov 2022
Scott Erick R, Yang Yao, Botton Mariana R, Seki Yoshinori, Hoshitsuki Keito, Harting John, Baybayan Primo, Cody Neal, Nicoletti Paola, Moriyama Takaya, Chakraborty Shreyasee, Yang Jun J, Edelmann Lisa, Schadt Eric E, Korlach Jonas, Scott Stuart A
Abstract excerpt
To determine the phase of NUDT15 sequence variants for more comprehensive star (*) allele diplotyping, we developed a novel long-read single-molecule real-time HiFi amplicon sequencing method. A 10.5 kb NUDT15 amplicon assay was validated using reference material positive controls and additional samples for specimen type and blinded accuracy assessment. Triplicate NUDT15 HiFi sequencing of two reference material...
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