"Luigi Luca Cavalli-Sforza" Istituto di Genetica Molecolare, Consiglio Nazionale delle Ricerche (IGM-CNR), 40136 Bologna, Italy.
IRCCS, Istituto Ortopedico Rizzoli, 40136 Bologna, Italy.
Genes (Basel). 2023 Jun 30;14(7):1386. doi: 10.3390/genes14071386.
The advent of next generation sequencing (NGS) has fostered a shift in basic analytic strategies of a gene expression analysis in diverse pathologies for the purposes of research, pharmacology, and personalized medicine. What was once highly focused research on individual signaling pathways or pathway members has, from the time of gene expression arrays, become a global analysis of gene expression that has aided in identifying novel pathway interactions, the discovery of new therapeutic targets, and the establishment of disease-associated profiles for assessing progression, stratification, or a therapeutic response. But there are significant caveats to this analysis that do not allow for the construction of the full picture. The lack of timely updates to publicly available databases and the "hit and miss" deposition of scientific data to these databases relegate a large amount of potentially important data to "garbage", begging the question, "how much are we really missing?" This brief perspective aims to highlight some of the limitations that RNA binding/modifying proteins and RNA processing impose on our current usage of NGS technologies as relating to cancer and how not fully appreciating the limitations of current NGS technology may negatively affect therapeutic strategies in the long run.
下一代测序（NGS）的出现促进了基础分析策略的转变，使基因表达分析在各种病理学中用于研究、药理学和个性化医学。曾经高度集中于单个信号通路或通路成员的研究，从基因表达阵列开始，已经成为基因表达的全面分析，有助于识别新的通路相互作用、发现新的治疗靶点，并建立疾病相关的特征，以评估进展、分层或治疗反应。但是，这种分析存在重大的局限性，无法构建完整的图景。公共数据库的更新不及时，以及科学数据向这些数据库的“有一搭没一搭”的沉积，将大量潜在的重要数据归为“垃圾”，这就引出了一个问题，“我们到底错过了多少？”本简要观点旨在强调 RNA 结合/修饰蛋白和 RNA 处理在当前癌症中使用 NGS 技术方面所带来的一些局限性，以及不充分认识当前 NGS 技术的局限性可能会对长期的治疗策略产生负面影响。
