bioRxivBioinformaticsPreprint
Synonymous SNP: Rare versus frequent codon can cause Phenotypic changes in the human genome
Abstract
Since the initial sequencing of the human genome, many projects are underway to understand the effects of genetic variation and phenotypic changes between individuals. Single nucleotide polymorphisms (SNPs) are an increasingly important tool for genetic and biomedical research. Synonymous Single Nucleotide Polymorphisms (sSNP) is an important source of human genome variability. It does not produce altered coding sequences therefore expected not to change the function of protein in which they occur. Examination of synonymous SNPs that change a rarely used codon into a frequently used one or vice versa may help in predicting their phenotypic effect on the individual carrying the change. Detail information of Human Synonymous Single-nucleotide-polymorphism may accelerate the research of personalized medicine since it has the crucial impact in the field of non-synonymous SNP.
- organism: human
- assay: GWAS summary statistics
- research focus: variant effect prediction
- approach: statistical model
- Citations
- 1
Reproducibility ledger
Nobody has reported trying to reproduce this paper yet. Did you replicate an experiment or run the code? Your report saves the next lab a week.
Sign in to file a reproducibility report.
Related papers
- A minimal role for synonymous variation in human disease
Ryan S. Dhindsa, Quanli Wang, … Slavé Petrovski·The American Journal of Human GeneticsPeer-reviewed·Dec 1, 2022
- Decoding the effects of synonymous variants
Zishuo Zeng, Ariel Alejandro Aptekmann, Yana Bromberg·Nucleic Acids ResearchPeer-reviewed·Nov 8, 2021
- Linked mutations at adjacent nucleotides have shaped human population differentiation and protein evolution
James G. D. Prendergast, Carys Pugh, … Allan Beveridge·Genome Biology and EvolutionPeer-reviewed·Jan 18, 2019
- SyMetrics: An Integrated Machine Learning Model for Evaluating the Pathogenicity of Synonymous Variants in the Human Genome
Linnaeus Bundalian, Martina Strnadová, … Diana Le Duc·NAR Genomics and BioinformaticsPeer-reviewed·Dec 2, 2025
- Exploring the distribution of single nucleotide polymorphisms across human exons and introns
Magdalena Fra̧szczak, Jakub Liu, … Joanna Szyda·bioRxiv·Mar 23, 2024
- Novel start codons introduce novel coding sequences in the human genomes
He Zhang, Yang Xie·Scientific ReportsPeer-reviewed·May 19, 2023