Identifying Microproteins with Genetic Association Data

Abstract

The annotation of the human genome is an ongoing process, continually refined as new functional elements are discovered. In recent years, regions previously classified as long non-coding RNAs have gained attention as many of them contain sequences that are actively translated. In this work, we mapped single-nucleotide variants (SNVs) listed in the GWAS Catalog to 7,264 previously undescribed open reading frames (ORFs) identified from the human genome. From this analysis, we identified six final microprotein encoding candidates that are likely to be associated with diseases or traits linked to their corresponding SNVs. These findings will hopefully contribute to the expanding functional annotation of the human genome and highlight the potential biological relevance of previously overlooked potential new microgenes.