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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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Improving Translational Accuracy02:07

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Base complementarity between the three base pairs of mRNA codon and the tRNA anticodon is not a failsafe mechanism. Inaccuracies can range from a single mismatch to no correct base pairing at all. The free energy difference between the correct and nearly correct base pairs can be as small as 3 kcal/ mol. With complementarity being the only proofreading step, the estimated error frequency would be one wrong amino acid in every 100 amino acids incorporated. However, error frequencies observed in...
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Single Nucleotide Polymorphisms-SNPs01:05

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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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Related Experiment Video

Updated: Aug 26, 2025

Using RNA-sequencing to Detect Novel Splice Variants Related to Drug Resistance in In Vitro Cancer Models
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EnsembleSplice: ensemble deep learning model for splice site prediction.

Victor Akpokiro1, Trevor Martin2, Oluwatosin Oluwadare3

  • 1Department of Computer Science, University of Colorado, Colorado Springs, CO, 80918, USA.

BMC Bioinformatics
|October 6, 2022
PubMed
Summary

EnsembleSplice, a novel ensemble learning model, significantly improves splice site detection accuracy in genomic DNA sequencing. This convolutional neural network (CNN) architecture enhances prediction accuracy and reduces error rates for biomedical research.

Keywords:
Convolutional neural network (CNN)Deep learning (DL)Dense neural network (DNN)Ensemble learningFeature extractionSplice sites (SS)

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Area of Science:

  • Genomics
  • Bioinformatics
  • Computational Biology

Background:

  • Accurate splice site identification is crucial for genomic DNA sequencing in biomedical and pharmaceutical research.
  • While neural networks show promise, improvements in splice site prediction accuracy and error rates are still needed.

Purpose of the Study:

  • To develop an advanced computational model for highly accurate splice site detection.
  • To enhance existing splice site prediction methods by improving accuracy and reducing error rates.

Main Methods:

  • An ensemble learning architecture, EnsembleSplice, was developed using four distinct convolutional neural network (CNN) models.
  • Models were trained and evaluated using a five-fold cross-validation approach on human and Arabidopsis thaliana genomic datasets.

Main Results:

  • EnsembleSplice demonstrated superior performance compared to existing methods in splice site detection.
  • Achieved 94.16% accuracy for acceptor and 95.97% accuracy for donor splice sites in human datasets.
  • Reported error rates of 5.84% for acceptor and 4.03% for donor splice sites in human datasets.

Conclusions:

  • The five-fold cross-validation confirmed the consistent prediction accuracy of the developed models.
  • All datasets, models, and results are publicly available on GitHub for reproducibility.