MORFEE: a new tool for detecting and annotating single nucleotide variants creating premature ATG codons from VCF files [article]

Dylan Aissi, Omar Soukarieh, Carole Proust, Beatrice Jaspard-Vinassa, Pierre Fautrad, Manal Ibrahim-Kosta, Felipe Leal-Valentim, Maguelonne Roux, Delphine Bacq-Daian, Robert Olaso, Jean-Francois Deleuze, Pierre-Emmanuel Morange (+1 others)
2020 bioRxiv   pre-print
Variants in 5'UTR regions that create upstream translation initiation AUG codons are a class of neglected non coding variations. When they associate with a premature stop codon and create upstream open reading frames (uORFs) whose translation competes with that of natural proteins, they can have strong impact on human diseases. We here describe MORFEE, a new bioinformatics tool that detects, annotates and predicts, from a standard VCF file, the creation of uORF by any 5'UTR variants on uORF
more » ... tion. MORFEE was applied to two genomic resources and identified candidate functional variants that could explain statistical association signals observed in the context of Genome Wide Association Studies or could be responsible for rare forms of diseases. In conclusion MORFEE is an easy-to-use tool complementary to existing ones that can help resolving genetic investigations that remained so far unfruitful. MORFEE is written in R with code and package available at https://github.com/daissi/MORFEE.
doi:10.1101/2020.03.29.012054 fatcat:rfpernksovb2fmkw2wnxdtj34i