RNA Sequencing in Disease Diagnosis.

IF 7.7 2区 生物学 Q1 GENETICS & HEREDITY
Craig Smail, Stephen B Montgomery
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引用次数: 0

Abstract

RNA sequencing (RNA-seq) enables the accurate measurement of multiple transcriptomic phenotypes for modeling the impacts of disease variants. Advances in technologies, experimental protocols, and analysis strategies are rapidly expanding the application of RNA-seq to identify disease biomarkers, tissue- and cell-type-specific impacts, and the spatial localization of disease-associated mechanisms. Ongoing international efforts to construct biobank-scale transcriptomic repositories with matched genomic data across diverse population groups are further increasing the utility of RNA-seq approaches by providing large-scale normative reference resources. The availability of these resources, combined with improved computational analysis pipelines, has enabled the detection of aberrant transcriptomic phenotypes underlying rare diseases. Further expansion of these resources, across both somatic and developmental tissues, is expected to soon provide unprecedented insights to resolve disease origin, mechanism of action, and causal gene contributions, suggesting the continued high utility of RNA-seq in disease diagnosis.

疾病诊断中的 RNA 测序。
通过 RNA 测序(RNA-seq)可以精确测量多种转录组表型,从而建立疾病变异影响的模型。技术、实验方案和分析策略的进步正在迅速扩大 RNA-seq 的应用范围,以确定疾病生物标志物、组织和细胞类型特异性影响以及疾病相关机制的空间定位。国际上正在努力构建生物库规模的转录组资源库,并在不同人群中提供匹配的基因组数据,通过提供大规模的规范参考资源,进一步提高了 RNA-seq 方法的实用性。有了这些资源,再加上改进的计算分析管道,就能检测出罕见疾病的异常转录组表型。随着这些资源在体细胞和发育组织中的进一步扩展,预计不久将提供前所未有的洞察力,以解决疾病起源、作用机制和因果基因贡献等问题,这表明 RNA-seq 在疾病诊断中将继续发挥重要作用。预计《基因组学与人类遗传学年度综述》第 25 卷的最终在线出版日期为 2024 年 8 月。修订后的预计日期请参见 http://www.annualreviews.org/page/journal/pubdates。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
CiteScore
14.90
自引率
1.10%
发文量
29
期刊介绍: Since its inception in 2000, the Annual Review of Genomics and Human Genetics has been dedicated to showcasing significant developments in genomics as they pertain to human genetics and the human genome. The journal emphasizes genomic technology, genome structure and function, genetic modification, human variation and population genetics, human evolution, and various aspects of human genetic diseases, including individualized medicine.
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