Olga Fjodorova

This study identifies a congenital disorder of glycosylation caused by a missense variant in the second starting methionine of syntaxin-5, leading to loss of the short isoform and multisystem disease.

TAC-seq is a targeted sequencing method using UMIs to count biomarker molecules, showing improved accuracy in mRNA, microRNA, and cell-free DNA analysis compared to standard sequencing.