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Updated: Jul 11, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
Can probability of genetic mutation be an indicator of clinical relevance?
Chien-Lun Chen1, Ke-Hung Tsui, Chiao-Yun Lin
1Department of Urology, Chang Gung Memorial Hospital, Chang Gung Bioinformatics Center, Kwei-Shan, Tao-Yuan 333, Taiwan, ROC.
Abstract:
NPM1 gene mutation evaluated on a population basis is a valuable and realistic tool to reflect the pathophysiological relevance of cancer. In a comparison of the NPM1 cDNA of human bladder cancer with its consensus sequence, we have found that a higher NPM1 sequence identity in a population is consistent with poor tumor differentiation, advanced tumor stage, and likelihood of recurrence. These data imply that "probability" of NPM1 mutation is an indicator of status of malignancy.
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