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Updated: Sep 5, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
A comprehensive tool for rapid and accurate prediction of disease using DNA sequence classifier
Garima Mathur1, Anjana Pandey2, Sachin Goyal2
1Department of Computer Science and Engineering, UIT, RGPV, Bhopal, India.
Abstract:
In the current pandemic situation where the coronavirus is spreading very fast that can jump from one human to another. Along with this, there are millions of viruses for example Ebola, SARS, etc. that can spread as fast as the coronavirus due to the mobilization and globalization of the population and are equally deadly. Earlier identification of these viruses can prevent the outbreaks that we are facing currently as well as can help in the earlier designing of drugs. Identification of disease at a prior stage can be achieved through DNA sequence classification as DNA carries most of the genetic information about organisms. This is the reason why the classification of DNA sequences plays an important role in computational biology. This paper has presented a solution in which samples collected from NCBI are used for the classification of DNA sequences. DNA sequence classification will in turn gives the pattern of various diseases; these patterns are then compared with the samples of a newly infected person and can help in the earlier identification of disease. However, feature extraction always remains a big issue. In this paper, a machine learning-based classifier and a new technique for extracting features from DNA sequences based on a hot vector matrix have been proposed. In the hot vector representation of the DNA sequence, each pair of the word is represented using a binary matrix which represents the position of each nucleotide in the DNA sequence. The resultant matrix is then given as an input to the traditional CNN for feature extraction. The results of the proposed method have been compared with 5 well-known classifiers namely Convolution neural network (CNN), Support Vector Machines (SVM), K-Nearest Neighbor (KNN) algorithm, Decision Trees, Recurrent Neural Networks (RNN) on several parameters including precision rate and accuracy and the result shows that the proposed method gives an accuracy of 93.9%, which is highest compared to other classifiers.
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