Article
Gene-Specific Variant Classifier (DPYD-Varifier) to Identify Deleterious Alleles of Dihydropyrimidine Dehydrogenase.
Clinical pharmacology and therapeutics - 1 Oct 2018
Shrestha Shikshya, Zhang Cheng, Jerde Calvin R, Nie Qian, Li Hu, Offer Steven M, Diasio Robert B
Abstract excerpt
Deleterious variants in dihydropyrimidine dehydrogenase (DPD, DPYD gene) can be highly predictive of clinical toxicity to the widely prescribed chemotherapeutic 5-fluorouracil (5-FU). However, there are very limited data pertaining to the functional consequences of the >450 reported no-synonymous DPYD variants. We developed a DPYD-specific variant classifier (DPYD-Varifier) using machine learning and in vitro...
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