Sudhakaran Prabakaran

Use of short-read RNA-Seq data to identify transcripts that can translate novel ORFs

The paper proposes a workflow to identify transcripts containing novel open reading frames (nORFs) using a precompiled database and sample transcript data, with examples from mouse, human, and cichlid fish.

Proteins encoded by Novel ORFs have increased disorder but can be biochemically regulated and harbour pathogenic mutations

The paper investigates novel proteins encoded by uncharacterized ORFs, finding they have higher predicted disorder but no correlation between mutation pathogenicity and structural order.

Translational products encoded by novel ORFs may form protein-like structures and have biological functions

The paper shows that novel ORFs can produce protein-like structures with biological functions relevant to disease, challenging the view that they are inconsequential.

Identification And Prioritisation Of Variants In The Short Open-Reading Frame Regions Of The Human Genome

The paper evaluates variant calling tools and introduces sORF-c, a machine learning model to prioritize variants in short open-reading frame regions of the human genome.