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. Expected final online publication date for the Annual Review of Genomics and Human Genetics, Volume 25 is August 2024. Please see http://www.annualreviews.org/page/journal/pubdates for revised estimates.

Craig Smail

Stephen B. Montgomery

Annual Review of Genomics and Human Genetics

自 2000 年出版的《基因组学和人类遗传学年度回顾》涵盖了基因组学领域的重大发展，因为它们适用于人类遗传学和人类基因组。我们对基因组技术、基因组结构和功能、基因改造、人类变异和群体遗传学、人类进化以及更重要的是人类遗传疾病的各个方面以及包括个体化医学等领域都特别感兴趣。

Since its inception in 2000, the Annual Review of Genomics and Human Genetics has covered significant advancements in the field of genomics, particularly as they relate to human genetics and the human genome. We are particularly interested in various aspects of genomic technologies, genomic structure and function, genetic modification, human variation and population genetics, human evolution, and, importantly, human genetic diseases, including fields such as personalized medicine.

《Annual Review of Genomics and Human Genetics》自2000年出版以来，涵盖了基因组学领域的重要进展，特别是与人类遗传学和人类基因组相关的研究。我们关注基因组技术、基因组结构与功能、基因改造、人类变异与群体遗传学、人类进化，以及人类遗传疾病等多个方面，尤其是个体化医学等领域。

Category	Quartile
生物学	2
生物学, 遗传学	2

RNA Sequencing in Disease Diagnosis

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Category	Quartile
GENETICS & HEREDITY	1