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Updated: Jul 6, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
A Study and Analysis of Disease Identification using Genomic Sequence Processing Models: An Empirical Review.
Sony K Ahuja1, Deepti D Shrimankar1, Aditi R Durge1
1Visvesvaraya National Institute of Technology, Computer Science and Engineering, India.
Selecting machine learning models for genomic sequence analysis is challenging due to varying performance. This survey details model nuances, aiding researchers in choosing optimal solutions for disease prediction and clinical applications.
Area of Science:
- Genomics
- Bioinformatics
- Machine Learning
Background:
- Human gene sequences offer comprehensive health information for disease prediction.
- Machine learning models are crucial for analyzing genomic sequences to identify various diseases.
- Existing models present trade-offs in accuracy, scalability, and performance.
Purpose of the Study:
- To survey and compare different machine learning models for genomic sequence processing.
- To provide a framework for selecting optimal models based on specific application and performance needs.
- To assist genomic system designers in identifying suitable models for clinical scenarios.
Main Methods:
- Detailed survey of machine learning models for genomic data.
- Analysis of functional nuances, advantages, and limitations of each model.
- Quantitative comparison of models based on accuracy, delay, precision, scalability, and deployment cost.
Main Results:
- Models vary significantly in performance characteristics, such as speed vs. accuracy and scalability.
- A novel Genome Processing Efficiency Rank (GPER) is introduced for model evaluation.
- Quantitative data aids in comparing models for real-time clinical applications.
Conclusions:
- This survey provides critical insights into the landscape of genomic processing models.
- Researchers can leverage the detailed comparison and GPER to select appropriate models.
- Informed model selection can enhance the efficiency and accuracy of disease prediction from genomic data.
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