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Updated: Jan 13, 2026

Visualizing Genetic Variants, Short Targets, and Point Mutations in the Morphological Tissue Context with an RNA In Situ Hybridization Assay
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Published on: August 14, 2018

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从大量RNA-seq数据中精确检测体质单核酸变异,使用RNA-MosaicHunter

August Yue Huang1,2,3, Yuchen Cheng1,4, Jayoung Ku1,2,3

  • 1Division of Genetics and Genomics and Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, United States.

Nucleic acids research
|January 8, 2026
PubMed
概括

身体变异或突变与各种疾病有关. 一种名为RNA-MosaicHunter的新工具可以从RNA测序数据中准确地检测出这些突变,帮助研究衰老和阿尔茨海默氏症等疾病.

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相关概念视频

RNA-seq03:21

RNA-seq

RNA sequencing, or RNA-Seq, is a high-throughput sequencing technology used to study the transcriptome of a cell. Transcriptomics helps to interpret the functional elements of a genome and identify the molecular constituents of an organism. Additionally, it also helps in understanding the development of an organism and the occurrence of diseases. 
Before the discovery of RNA-seq, microarray-based methods and Sanger sequencing were used for transcriptome analysis. However, while...
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