Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Nat Rev Genet. 2023 Jun;24(6):363-381. doi: 10.1038/s41576-022-00559-5. Epub 2023 Jan 18.
Chemical modifications to nucleic acids occur across the kingdoms of life and carry important regulatory information. Reliable high-resolution mapping of these modifications is the foundation of functional and mechanistic studies, and recent methodological advances based on next-generation sequencing and long-read sequencing platforms are critical to achieving this aim. However, mapping technologies may have limitations that sometimes lead to inconsistent results. Some of these limitations are technical in nature and specific to certain types of technology. Here, however, we focus on common (yet not always widely recognized) pitfalls that are shared among frequently used mapping technologies and discuss strategies to help technology developers and users mitigate their effects. Although the emphasis is primarily on DNA modifications, RNA modifications are also discussed.
核酸的化学修饰存在于生命的各个领域，并携带重要的调节信息。这些修饰的可靠的高分辨率作图是功能和机制研究的基础，基于下一代测序和长读测序平台的最新方法学进展对于实现这一目标至关重要。然而，作图技术可能存在局限性，有时会导致结果不一致。其中一些局限性是技术性质的，并且特定于某些类型的技术。然而，在这里，我们关注的是经常使用的作图技术之间共有的常见（但并非总是广泛认识到的）陷阱，并讨论了帮助技术开发人员和用户减轻其影响的策略。虽然重点主要是 DNA 修饰，但也讨论了 RNA 修饰。
