Predicting Functional Effects of Synonymous Variants: A Systematic Review and Perspectives
Author:
Publisher
Frontiers Media SA
Subject
Genetics (clinical),Genetics,Molecular Medicine
Reference116 articles.
1. Actionable exomic incidental findings in 6503 participants: challenges of variant classification;Amendola;Genome Res.,2015
2. CodonO: codon usage bias analysis within and across genomes;Angellotti;Nucleic Acids Res.,2007
3. Decoding mechanisms by which silent codon changes influence protein biogenesis and function;Bali;Int. J. Biochem. Cell Biol.,2015
4. Unmet needs in human genomic variant interpretation;Bauer;Genet. Med.,2018
5. Carrier testing for severe childhood recessive diseases by next-generation sequencing;Bell;Sci. Trans. Med.,2011
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