Upstream Open Reading Frame-Introducing Variants in Patients with Primary Familial Brain Calcification

Research Background and Problem Statement Primary Familial Brain Calcification (PFBC) is a rare neurological disorder characterized by microvascular calcification in the basal ganglia and other brain regions. Although at least six genes associated with PFBC have been identified (including SLC20A2, XPR1, PDGFB, PDGFRB, MYORG, and JAM2), the pathogen...

A 5' UTR Language Model for Decoding Untranslated Regions of mRNA and Function Predictions

A 5' UTR Language Model for Decoding Untranslated Regions of mRNA and Function Predictions

The 5’ untranslated region (5’UTR) is a regulatory region at the start of messenger RNA (mRNA) molecules, playing a crucial role in regulating the translation process and affecting protein expression levels. Language models have demonstrated effectiveness in decoding protein and genomic sequence functions. In this study, the authors introduce a lan...