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Updated: Jan 15, 2026

Using RNA-sequencing to Detect Novel Splice Variants Related to Drug Resistance in In Vitro Cancer Models
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通过使用向RNA测序数据,在血液恶性瘤中增强检测结合变异变异

Muneeza Maqsood1, John Toubia2, Carol Wadham3

  • 1Department of Genetics and Molecular Pathology and Centre for Cancer Biology, SA Pathology, Adelaide, South Australia, Australia; Clinical and Health Sciences, University of South Australia, Adelaide, South Australia, Australia; Data and Bioinformatics Innovation, Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.

The Journal of molecular diagnostics : JMD
|October 12, 2025
PubMed
概括

新的生物信息学工具,SpliceChaser和BreakChaser,可以准确地检测癌症RNA测序数据中的拼接改变变异和基因删除. 这些工具可以提高慢性髓性白血病和其他恶性瘤的诊断精度.

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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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RNA Splicing01:32

RNA Splicing

Splicing is the process by which eukaryotic RNA is edited before its translation into protein. The RNA strand transcribed from eukaryotic DNA is called the primary transcript. The primary transcripts that become mRNAs are called precursor messenger RNAs (pre-mRNAs). Eukaryotic pre-mRNA contains alternating sequences of exons and introns. Exons are nucleotide sequences that code for proteins, whereas introns are the non-coding regions. In RNA splicing, introns are removed and exons are bonded...
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Alternative RNA Splicing02:18

Alternative RNA Splicing

Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
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