Omar Soukarieh

The paper introduces MORFEE, a tool to identify SNVs altering small ORFs in human transcripts, and presents MORFEEdb, a catalog of such variants, showing over 45% of UTR-SNVs can affect upORFs or dORFs.

This study identifies ENG 5UTR variants altering upstream ORFs that reduce Endoglin levels and links uPAR pathway loci to soluble Endoglin levels through proteogenomics and functional assays.

This paper identifies two novel 5UTR ENG variants in HHT patients that create uAUGs, leading to uoORFs and reduced ENG protein levels and function.

MORFEE identifies and annotates single nucleotide variants in 5UTR regions that create upstream open reading frames (uORFs) from VCF files, aiding in interpreting genetic association signals and disease mechanisms.