The majority of human genetic diseases are caused by single nucleotide variants (SNVs) in the genome sequence. Excitingly, new genomic techniques known as base editing have opened efficient pathways to correct erroneous nucleotides. Due to reliance on deaminases, which have the capability to convert A to I(G) and C to U, the direct applicability of base editing might seem constrained in terms of the range of mutations that can be reverted. In this evaluation, we assess the potential of DNA and RNA base editing methods for treating human genetic diseases. Our findings indicate that 62% of pathogenic SNVs found within genes can be amended by base editing; 30% are G>A and T>C SNVs that can be corrected by DNA base editing, and most of them by RNA base editing as well, and 29% are C>T and A>G SNVs that can be corrected by DNA base editing directed to the complementary strand. For each, we also present several factors that affect applicability such as bystander and off-target occurrences. For cases where editing the mismatched nucleotide is not feasible, we introduce an approach that calculates the optimal substitution of the deleterious amino acid with a new amino acid, further expanding the scope of applicability. As personalized therapy is rapidly advancing, our demonstration that most SNVs can be treated by base editing is of high importance. The data provided will serve as a comprehensive resource for those seeking to design therapeutic base editors and study their potential in curing genetic diseases.

大多数人类遗传疾病是由基因组序列中的单核苷酸变异（SNV）引起的。令人兴奋的是，称为碱基编辑的新基因组技术开辟了纠正错误核苷酸的有效途径。由于依赖脱氨酶，脱氨酶能够将 A 转化为 I(G)，将 C 转化为 U，因此碱基编辑的直接适用性似乎在可恢复的突变范围方面受到限制。在本次评估中，我们评估了 DNA 和 RNA 碱基编辑方法治疗人类遗传疾病的潜力。我们的研究结果表明，基因内发现的 62% 的致病性 SNV 可以通过碱基编辑进行修改；30%是G>A和T>C SNV，可以通过DNA碱基编辑来校正，其中大部分也可以通过RNA碱基编辑来校正，29%是C>T和A>G SNV，可以通过DNA碱基编辑来校正编辑针对互补链。对于每个因素，我们还提出了影响适用性的几个因素，例如旁观者和脱靶事件。对于编辑不匹配的核苷酸不可行的情况，我们引入了一种计算新氨基酸对有害氨基酸的最佳替换的方法，进一步扩大了适用范围。随着个性化治疗的迅速发展，我们证明大多数 SNV 可以通过碱基编辑进行治疗非常重要。所提供的数据将为那些寻求设计治疗碱基编辑器并研究其治疗遗传疾病潜力的人提供综合资源。