Health research in the era of artificial intelligence: Advances in gene-editing study

In recent years, gene editing technology, represented by clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated protein 9 (Cas9) has made a revolutionary breakthrough. Base editing techniques developed from CRISPR/Cas9 technologies have demonstrated the ability to efficiently achieve single base substitutions at specific genomic sites without double-strand breaks. Base editing systems have evolved rapidly over the past few years, from efficient single-base editing to high-throughput screening, and from in vitro to in vivo applications. In particular, base editing screening systems have facilitated functional genomic studies at the single-nucleotide resolution, offering unprecedented insights into genetic function. Meanwhile, the rapid advancement of artificial intelligence (AI) is playing a pivotal role in assisting genome editing and streamlining data analysis within base editing systems. This review encompasses the recent progress in gene editing research, focusing on the development of base editing technologies, exploring base editing-based functional genomic studies at the single-nucleotide level, and underscoring the potential synergies between AI and functional genomic studies.