Decoding a Million Genomes: Unveiling the Protein-coding Landscape and Its Implications for Precision Medicine

The study by Sun <i>et al.</i> , which sequenced exomes from 983,578 individuals, provides a comprehensive resource on protein-coding genetic variation. This commentary examines the key findings, including rare biallelic variants and loss-of-function intolerant genes, while emphasizing their implications for gene splicing, human knockouts, and disease-associated genes. Additionally, we discuss how these insights propel advancements in precision medicine and suggest future research directions, particularly in the study of non-coding DNA and regulatory RNAs at population scales.