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Related Concept Videos

RNA Splicing01:32

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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 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.
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In eukaryotic cells, transcripts made by RNA polymerase are modified and processed before exiting the nucleus. Unprocessed RNA is called precursor mRNA or pre-mRNA to distinguish it from mature mRNA.
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Since the discovery of the two BER pathways, there has been a debate about how a cell chooses one pathway over the other and the factors determining this selection. Numerous in vitro experiments have pointed out multiple determinants for the sub-pathway selection. These are:
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Using RNA-sequencing to Detect Novel Splice Variants Related to Drug Resistance in In Vitro Cancer Models
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Splam: a deep-learning-based splice site predictor that improves spliced alignments.

Kuan-Hao Chao1,2, Alan Mao3,4,5, Steven L Salzberg3,4,5,6

  • 1Department of Computer Science, Johns Hopkins University, Baltimore, MD, 21218, USA. kh.chao@cs.jhu.edu.

Genome Biology
|September 16, 2024
PubMed
Summary
This summary is machine-generated.

We developed Splam, a new deep learning method for predicting splice junctions in DNA. Splam achieves 96% accuracy in human splice junction prediction, outperforming existing methods.

Keywords:
Convolutional neural networkDeep learningDilated convolutionResidual blockSplice site predictorSpliced alignment

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Area of Science:

  • Genomics
  • Bioinformatics
  • Computational Biology

Background:

  • Messenger RNA (mRNA) splicing is a critical process for gene expression, involving the removal of introns to form mature mRNA.
  • Splice junctions, the boundaries between exons and introns, are essential for accurate gene and gene variant formation.
  • Accurate prediction of splice junctions is crucial for understanding gene regulation and disease mechanisms.

Purpose of the Study:

  • To introduce Splam, a novel deep learning method for predicting splice junctions in DNA.
  • To improve the accuracy and biological relevance of splice junction prediction models.
  • To provide a more effective tool for analyzing gene splicing processes.

Main Methods:

  • Development of Splam, a deep residual convolutional neural network model.
  • Utilizing a 400-base-pair window flanking each splice site to capture relevant biological signals.
  • Training the model on both donor and acceptor splice sites simultaneously to mimic the splicing machinery's recognition process.

Main Results:

  • Splam demonstrates high accuracy in predicting human splice junctions, achieving 96% accuracy.
  • The method outperforms existing models, such as SpliceAI, in predictive accuracy.
  • The model's design, incorporating flanking sequence windows and joint training, reflects key aspects of biological splicing.

Conclusions:

  • Splam represents a significant advancement in splice junction prediction accuracy.
  • The method's biologically informed approach enhances its reliability and utility in genomic research.
  • Splam offers a powerful new tool for investigating gene splicing and its role in genetic diversity and disease.