Genome-wide detection of human 5' UTR variants that impact protein translation - PubMed
4 hours ago
- #translation regulation
- #5' UTR variants
- #genetic disease
- Developed 5ULTRA, a computational tool to analyze WES/WGS data for detecting 5' UTR variants affecting translation.
- Annotates SNVs, indels, and splicing variants impacting uORFs and Kozak sequence strength.
- Includes a machine-learning score that predicts translation effects and correlates with experimental protein-level data.
- Applied to genetic datasets, identifying candidate somatic mutations, common variants linked to diseases, and rare germline variants.
- Demonstrates potential for uncovering variants in cancer, autoimmune, cardiovascular, and infectious disease contexts.