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Article

Incorporating mutational heterogeneity to identify genes that are enriched for synonymous mutations in cancer.

BMC bioinformatics - 7 Dec 2023

Rao Yiyun, Ahmed Nabeel, Pritchard Justin, O'Brien Edward P

Abstract excerpt

BACKGROUND: Synonymous mutations, which change the DNA sequence but not the encoded protein sequence, can affect protein structure and function, mRNA maturation, and mRNA half-lives. The possibility that synonymous mutations might be enriched in cancer has been explored in several recent studies. However, none of these studies control for all three types of mutational heterogeneity (patient, histology, and gene)...

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PMID: 38062391
DOI: 10.1186/s12859-023-05521-8
PMCID: PMC10704839

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