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By Gary Loughran, Head of Biology Introduction Mutations that introduce a premature termination codon (PTC) into the mRNA lead to the synthesis of truncated and usually non-functional proteins that may cause disease. Furthermore, mRNA surveillance pathways, such as the nonsense-mediated mRNA decay (NMD) pathway, can compound the impact of PTCs by degrading mutant mRNAs to […]

By Gary Loughran, Head of Biology Gene annotation is a cornerstone of genomics, providing insights into the functional elements of the genome and enabling researchers to understand the roles of genes in health, disease, and development. However, due to the complexity of many genomes, gene annotation is a daunting task, and traditional methods often fall