Article

A minimal role for synonymous variation in human disease

2022-07-15

Abstract excerpt

<h4>Summary</h4> Synonymous mutations change the DNA sequence of a gene without affecting the amino acid sequence of the encoded protein. Although emerging evidence suggests that synonymous mutations can impact RNA splicing, translational efficiency, and mRNA stability 1 , studies in human genetics, mutagenesis screens, and other experiments and evolutionary analyses have repeatedly shown that most synonymous va...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 3a9420b9-4c53-5ee0-88e0-b22f40a84998
DOI: 10.1101/2022.07.13.499964

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

A minimal role for synonymous variation in human diseaseDOI 10.1101/2022.07.13.499964Read

A minimal role for synonymous variation in human disease.Semantic proximity Read

Exposing synonymous mutations.Semantic proximity Read

Understanding the contribution of synonymous mutations to human disease.Semantic proximity Read

High-throughput Experimental Validation of Synonymous Mutation Neutrality in the Human GenomeSemantic proximity Read

When a Synonymous Variant Is Nonsynonymous.Semantic proximity Read

On the fitness effects and disease relevance of synonymous mutationsSemantic proximity Read

Silent (synonymous) SNPs: should we care about them?Semantic proximity Read

Translational plasticity facilitates the accumulation of nonsense genetic variants in the human populationSemantic proximity Read

Synonymous SNP: Rare versus frequent codon can cause Phenotypic changes in the human genomeSemantic proximity Read

Code inside the codon: The role of synonymous mutations in regulating splicing machinery and its impact on disease.Semantic proximity Read

Synonymous Variants: Necessary Nuance in Our Understanding of Cancer Drivers and Treatment Outcomes.Semantic proximity Read

Hearing silence: non-neutral evolution at synonymous sites in mammals.Semantic proximity Read