Massive parallel variant characterization identifies NUDT15 alleles associated with thiopurine toxicity
Chase C. Suiter, Takaya Moriyama, Kenneth A. Matreyek, Wentao Yang, Emma Rose Scaletti, Rina Nishii, Wenjian Yang, Keito Hoshitsuki, Minu Singh, Amita Trehan, Chris Parish, Colton J. Smith, Deepa Bhojwani, Liz Y. P. Yuen, Chi Kong Li, , Jun J.J. Yang
The paper identifies 1,103 deleterious NUDT15 variants using functional assays, improving pharmacogenetics-guided thiopurine treatment by accurately predicting toxicity risk alleles.
bioRxiv · Aug 20, 2019 · PreprintGenomics