Computational identification of deleterious synonymous variants in human genomes using a feature-based approach

Abstract Background Although synonymous single nucleotide variants (sSNVs) do not alter the protein sequences, they have been shown to play an important role in human disease. Distinguishing pathogenic sSNVs from neutral ones is challenging because pathogenic sSNVs tend to have low prevalence. Altho...

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Main Authors: Fang Shi (Author), Yao Yao (Author), Yannan Bin (Author), Chun-Hou Zheng (Author), Junfeng Xia (Author)
Format: Book
Published: BMC, 2019-01-01T00:00:00Z.
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3rd Floor Main Library

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