This document reviews the integration of deep learning (DL) and machine learning (ML) techniques in genome sequencing, highlighting their applications in sequence alignment, variant calling, and disease prediction. It discusses various computational models and algorithms, such as CNNs, RNNs, and Transformer models, that enhance the accuracy and efficiency of genetic data analysis while addressing challenges like data preprocessing and computational costs. The paper emphasizes the future potential of these technologies in personalized medicine and drug discovery, contributing significantly to advancements in genomics and precision healthcare.
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This document reviews the integration of deep learning (DL) and machine learning (ML) techniques in genome sequencing, highlighting their applications in sequence alignment, variant calling, and disease prediction. It discusses various computational models and algorithms, such as CNNs, RNNs, and Transformer models, that enhance the accuracy and efficiency of genetic data analysis while addressing challenges like data preprocessing and computational costs. The paper emphasizes the future potential of these technologies in personalized medicine and drug discovery, contributing significantly to advancements in genomics and precision healthcare.
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A REVIEW ON PERFORMANCE AND EMISSION ANALYSIS OF
BIODIESEL BLENDS BASED ON INDIAN JATROPHA & ETHANOL
1 Brijesh Kushwaha, 2Prof. Amit Kumar Asthana 1 M.Tech Energy Technology, 2 Assistant Professor 1,2 Department of Mechanical Engineering 1,2 Truba Institute of Engineering & Information Technology, Bhopal M.P., India Email id:- ABSTRACT DNA genome sequencing has revolutionized biological research and medical diagnostics, enabling the identification of genetic variations linked to diseases and traits. With the advent of deep learning (DL) and machine learning (ML), genome sequencing has witnessed significant advancements in speed, accuracy, and predictive analytics. Traditional sequencing methods, such as Next-Generation Sequencing (NGS) and Third- Generation Sequencing (TGS), generate massive amounts of complex genetic data, requiring sophisticated computational techniques for efficient processing and interpretation. This paper explores the integration of DL and ML techniques in genome sequencing, focusing on their applications in sequence alignment, variant calling, and disease prediction. Convolutional Neural Networks (CNNs), Recurrent Neural Networks (RNNs), and Transformer models have shown remarkable potential in identifying genetic patterns and mutations. Additionally, ML algorithms such as Support Vector Machines (SVMs), Random Forest, and Gradient Boosting are utilized for classification and anomaly detection in genetic sequences. We discuss the challenges associated with implementing ML/DL in genome sequencing, including data preprocessing, computational costs, and model interpretability. Furthermore, we highlight recent breakthroughs in AI-driven genome analysis and the future potential of these technologies in personalized medicine, drug discovery, and evolutionary studies. By leveraging advanced computational models, the field of genome sequencing is poised to achieve unprecedented accuracy and efficiency, ultimately contributing to the advancement of genomics and precision healthcare.
I. INTRODUCTION fields, including medicine, biotechnology, and
forensic science, by enabling the study of genes, Deoxyribonucleic acid (DNA) is the hereditary genetic diseases, and evolutionary relationships at a material in almost all living organisms, playing a molecular level. crucial role in passing genetic information from one The first major breakthrough in DNA sequencing generation to the next. It is the molecular blueprint came with the Sanger method, developed by that carries the instructions for building, Frederick Sanger in the 1970s. This technique, also functioning, and maintaining an organism. DNA is known as chain-termination sequencing, involves composed of two long chains, called strands, made synthesizing complementary DNA strands and using up of simpler molecules known as nucleotides. Each specially modified nucleotides to halt the process at nucleotide contains a sugar, a phosphate group, and specific points, producing a series of fragments. a nitrogenous base. The four types of nitrogenous These fragments are then analyzed to reveal the bases in DNA—adenine (A), thymine (T), cytosine sequence of the original DNA. The Sanger method (C), and guanine (G)—pair specifically: adenine was groundbreaking for its time but is relatively pairs with thymine, and cytosine pairs with guanine. slow and expensive when sequencing large amounts These base pairs are held together by hydrogen of DNA. bonds, forming the structure of the DNA double helix, which resembles a twisted ladder. B. Structure of DNA and RNA
A. OVERVIEW OF DNA SEQUENCING: DNA
sequencing is a laboratory technique used to determine the precise order of nucleotides—adenine (A), thymine (T), cytosine (C), and guanine (G)—in a DNA molecule. This process allows scientists to decode genetic information stored within an organism's genome, providing invaluable insights into its genetic makeup. The development of DNA sequencing technology has revolutionized many of experimental and computational tools, structure- based prediction paves the way for comprehensive proteomic network analysis, holding promise for advancements in drug discovery, biomarker identification, and personalized medicine. Future directions include enhancing scalability and dataset reliability to expand these approaches across diverse proteomes [2].
Tasnim Binte Shiraj, et.al. (2024)In a generic
computational environment for biological data processing, classifying DNA sequences is an important task. In recent times, a range of machine learning methods have been successfully applied to implement this task. Still, the hardest part of the process is choosing the features. The most popular Figure 1.: DNA and RNA structure representations exacerbate the massive dimensionality issue, because sequences lack unique In the subject of health analysis, both deep learning features. Due to the pathogenic virus’s high rate of and machine learning have shown promise. Certain transmission, early detection and accurate clinical genomics activities, such as identifying identification are essential for the treatment. It is variations, categorizing variants, labeling genomes, challenging to predict though, because this virus’s and linking phenotypes to phenotypes, are polymorphic nature enables it to adapt and survive effectively accomplished by it [3]. Since its in a variety of environment. Deep learning(DL) inception, generative adversarial networks (GAN) models have recently developed the ability to have found application in a wide range of fields. For automatically extract characteristics from the input machine learning systems to learn, a large amount of sequences. Previously, CNN-Bidirectional LSTM data is required. Genetic information and other and CNN-LSTM structures with Label and K-mer medical data are more difficult to get in order to encoding, Random Forests and Gradient Boosting preserve privacy. For this reason, it is crucial to Method, and Linear Discriminant Analysis have utilize fictitious data while doing research. In this been utilized for DNA sequence classification. In thesis, the nucleic acid patterns of the influenza this paper, we investigate the impact of a popular virus's DNA strands in humans were identified using and well-established language model, namely a generative adversarial network (GAN) model. This Transformer (BERT) which uses self-attention research may assist them in conducting clinical mechanism, to alter the procedure to understand examinations or diagnosing human ailments. It may underlying hidden patterns of the virus DNA also be used to identify genes in non-human sequences and correctly classify them [3]. animals. Brydon P. G. Wall, et.al. (2024) Three-Dimensional (3D) chromatin interactions, such as enhancer- II. LITERATURE SURVEY promoter interactions (EPIs), loops, Topologically Associating Domains (TADs), and A/B Despoina P. Kiouri, et.al. (2025)Protein–Protein compartments play critical roles in a wide range of Interaction (PPI) prediction plays a pivotal role in cellular processes by regulating gene expression. understanding cellular processes and uncovering Recent development of chromatin conformation molecular mechanisms underlying health and capture technologies has enabled genome-wide disease. Structure-based PPI prediction has emerged profiling of various 3D structures, even with single as a robust alternative to sequence-based methods, cells. However, current catalogs of 3D structures offering greater biological accuracy by integrating remain incomplete and unreliable due to differences three-dimensional spatial and biochemical features. in technology, tools, and low data resolution. This work summarizes the recent advances in Machine learning methods have emerged as an computational approaches leveraging protein alternative to obtain missing 3D interactions and/or structure information for PPI prediction, focusing on improve resolution. Such methods frequently use machine learning (ML) and deep learning (DL) genome annotation data (ChIP-seq, DNAse-seq, techniques. These methods not only improve etc.), DNA sequencing information (k-mers, predictive accuracy but also provide insights into Transcription Factor Binding Site (TFBS) motifs), functional sites, such as binding and catalytic and other genomic properties to learn the residues. However, challenges such as limited high- associations between genomic features and resolution structural data and the need for effective chromatin interactions. In this review, we discuss negative sampling persist. Through the integration computational tools for predicting three types of 3D interactions (EPIs, chromatin interactions, TAD applications in synthetic biology, especially in boundaries) and analyze their pros and cons. We engineering cells, activity of proteins, and metabolic also point out obstacles of computational prediction pathways. In the second section, I describe of 3D interactions and suggest future research fundamental DL architectures and their applications directions [4]. in synthetic biology. Finally, I describe different challenges causing hurdles in the progress of Zhaomin Yao, et.al. (2024) N4-methylcytosine ML/DL and synthetic biology along with their (4mC) is a DNA modification involving the addition solutions [6]. of a methyl group to the fourth nitrogen atom of the cytosine base. This modification may influence gene Jinsen Li, et.al. (2024)Understanding the regulation, providing potential insights into gene mechanisms of protein-DNA binding is critical in control mechanisms. Traditional laboratory methods comprehending gene regulation. Three-dimensional for detecting 4mC DNA methylation have DNA structure, also described as DNA shape, plays limitations, but the rise of artificial intelligence has a key role in these mechanisms. In this study, we introduced efficient computational strategies for present a deep learning-based method, Deep 4mC site prediction. Despite this progress, DNAshape, that fundamentally changes the current challenges persist in terms of model performance k-mer based high-throughput prediction of DNA and interpretability. To tackle these challenges, we shape features by accurately accounting for the propose DeepSF-4mC, a deep learning model influence of extended flanking regions, without the specifically designed for predicting DNA cytosine need for extensive molecular simulations or 4mC methylation sites by leveraging sequence structural biology experiments. By using the Deep features. Our approach incorporates multiple DNAshape method, DNA structural features can be encoding techniques to enhance prediction accuracy, predicted for any length and number of DNA increase model stability, and reduce the sequences in a high-throughput manner, providing computational resources needed. Leveraging an understanding of the effects of flanking regions transfer learning, we harness existing models to on DNA structure in a target region of a sequence. enhance performance through learned The Deep DNAshape method provides access to the representations or fine-tuning. Ensemble learning influence of distant flanking regions on a region of techniques combine predictions from multiple interest. Our findings reveal that DNA shape models, boosting robustness and accuracy. This readout mechanisms of a core target are research contributes to DNA methylation analysis quantitatively affected by flanking regions, and lays the groundwork for understanding 4mC’s including extended flanking regions, providing multifaceted role in biological processes [5]. valuable insights into the detailed structural readout mechanisms of protein-DNA binding. Furthermore, Manoj Kumar Goshisht, et.al. (2024)Machine when incorporated in machine learningmodels, the learning (ML), particularly deep learning (DL), has features generated by Deep DNAshape improve the made rapid and substantial progress in synthetic model prediction accuracy. Collectively, Deep biology in recent years. Biotechnological DNAshape can serve as versatile and powerful tool applications of biosystems, including pathways, for diverse DNA structure-related studies [7]. enzymes, and whole cells, are being probed Yogesh H. Bhosale, et.al. (2023) This review frequently with time. The intricacy and investigates how Deep Machine Learning (DML) interconnectedness of biosystems make it has dealt with the Covid-19 epidemic and provides challenging to design them with the desired recommendations for future Covid-19 research. properties. ML and DL have a synergy with Despite the fact that vaccines for this epidemic have synthetic biology. Synthetic biology can be been developed, DL methods have proven to be a employed to produce large data sets for training valuable asset in radiologists’ arsenals for the models (for instance, by utilizing DNA synthesis), automated assessment of Covid-19. This detailed and ML/DL models can be employed to inform review debates the techniques and applications design (for example, by generating new parts or developed for Covid-19 findings using DL systems. advising unrivaled experiments to perform). This It also provides insights into notable datasets used to potential has recently been brought to light by train neural networks, data partitioning, and various research at the intersection of engineering biology performance measurement metrics. The PRISMA and ML/DL through achievements like the design of taxonomy has been formed based on pretrained(45 novel biological components, best experimental systems) and hybrid/custom(17 systems) models design, automated analysis of microscopy data, with radiography modalities. A total of 62 systems protein structure prediction, and biomolecular with respect to X-ray(32), CT(19), ultrasound(7), implementations of ANNs (Artificial Neural ECG(2), and genome sequence(2) basedmodalities Networks). I have divided this review into three as taxonomy are selected from the studied articles. sections. In the first section, I describe predictive We originate by valuing the present phase of DL potential and basics of ML along with myriad and conclude with significant limitations. The restrictions contain incomprehensibility, QPM and WGS complemented with deep learning simplificationmeasures, learning from incomplete data analyses could, in the future, be transformative labeled data, and data secrecy. Moreover, DML can for detecting and identifying pathogens and be utilized to detect and classify Covid-19 from characterization of the AMR profile and antibiotic other COPD illnesses. The proposed literature susceptibility [9]. review has found many DL-based systems to fight against Covid19. We expect this article will assist in Prommy Sultana Hossain, et.al. (2023)The speeding up the procedure of DL for Covid-19 application of deep learning for taxonomic researchers, including medical, radiology categorization of DNA sequences is investigated in technicians, and data engineers [8]. this study. Two deep learning architectures, namely the Stacked Convolutional Autoencoder (SCAE) Azeem Ahmad, et.al. (2023) Current state-of-the-art with Multilabel Extreme Learning Machine infection and antimicrobial resistance (AMR) (MLELM) and the Variational Convolutional diagnostics are based on culture-based methods with Autoencoder (VCAE) with MLELM, have been a detection time of 48–96 h. Therefore, it is essential proposed. These designs provide precise feature to develop novel methods that can do real-time maps for individual and inter-label interactions diagnoses. Here, we demonstrate that the within DNA sequences, capturing their spatial and complimentary use of label-free optical assay with temporal properties. The collected features are whole-genome sequencing (WGS) can enable rapid subsequently fed into MLELM networks, which diagnosis of infection and AMR. Our assay is based yield soft classificatio n scores and hard labels. The on microscopy methods exploiting label-free, highly proposed algorithms underwent thorough training sensitive quantitative phase microscopy (QPM) and testing on unsupervised data, whereby one or followed by deep convolutional neural networks- more labels were concurrently taken into account. based classification. The workflow was The introduction of the clade label resulted in benchmarked on 21 clinical isolates from four WHO improved accuracy for both models compared to the priority pathogens that were antibiotic susceptibility class or genus labels, probably owing to the tested, and their AMR profile was determined by occurrence of large clusters of similar nucleotides WGS. The proposed optical assay was in good inside a DNA strand. In all circumstances, the agreement with the WGS characterization. Accurate VCAE-MLELM model consistently outperformed classification based on the gram staining (100% the SCAE-MLELM model. The best accuracy recall for gram-negative and 83.4% for attained by the VCAE-MLELM model when the grampositive), species (98.6%), and clade and family labels were combined was 94%. resistant/susceptible type (96.4%), as well as at the However, accuracy ratings for single-label individual strain level (100% sensitivity in categorization using either approach were less than predicting 19 out of the 21 strains, with an overall 65%. The approach’s effectiveness is based on accuracy of 95.45%). The results from this initial MLELM networks, which record connected patterns proof-of-concept study demonstrate the potential of across classes for accurate label categorization. This the QPM assay as a rapid and first-stage tool for study advances deep learning in biological species, strain-level classification, and the presence taxonomy by emphasizing the significance of or absence of AMR, which WGS can follow up for combining numerous labels for increased confirmation. Overall, a combined workflow with classification accuracy [10].
Table 1: Comparative Analysis of different previous methods
Ref. / Year / Journal Method Result Remark
[01] / 2025 / researchgate AI-powered AI algorithms enhances Through advanced AI algorithms disease prediction algorithms, precision medicine enhances disease prediction [02] / 2025 / MDPI machine learning Accuracy 89.7% These methods not only (ML) and deep improve predictive learning (DL) accuracy but also provide techniques insights into functional sites [03] / 2024 / researchgate CNN-Bidirectional Accuracy 88% DNA sequences that are LSTM and CNN- shorter in length or LSTM structures partial, the virusBERT transformer model performs better [04] / 2024 / NIH ML and DL 3D Accuracy 90% the importance of structures using appropriate metrics to assess performance [05] / 2024 / Elsevier DeepSF-4mC, a deep Accuracy 82% effortlessly upload their learning model DNA sequence data and perform methylation site prediction using the DeepSF-4mC method. [06] / 2024 / ACS SVM, RF, K-NN accuracy (R2 = 0.927) ML has apparent uses in standard optimization tasks for driving strains toward desired targets [07] / 2024 / Nature the Deep DNAshape improve the model Deep DNAshape method prediction accuracy BY improve the model 25% prediction accuracy [08] / 2023 / Springer based on DL X hybrid, and custom models utilized for recognizing and classifying Covid-19 from X-ray, CT, ultrasound, ECG, and genome sequence modalities
III. PROBLEM STATEMENT Deep Learning (DL) and Machine
Learning (ML) have significantly The rapid advancements in genomics have enhanced DNA genome sequencing by led to an explosion of DNA sequencing improving accuracy, speed, and data, presenting challenges in efficiently automation. Traditional sequencing analyzing and interpreting genetic methods rely on alignment-based information. Traditional methods struggle techniques, but AI-driven models can with the complexity, volume, and accuracy detect patterns, mutations, and variations required for genome sequencing. Deep more efficiently. ML algorithms like Learning (DL) and Machine Learning Random Forests and XGBoost help (ML) techniques offer potential solutions classify genetic variations, while DL for improving genome sequencing models such as CNNs, LSTMs, and accuracy, detecting mutations, and Transformer-based architectures (e.g., predicting genetic disorders. However, DNABERT) capture complex sequence optimizing these models for high dependencies. These models are trained on precision, scalability, and interpretability large genomic datasets, using k-mer remains a challenge. This research aims to encoding and embedding techniques for develop and optimize DL and ML models feature extraction. Applications include for DNA genome sequencing, focusing on variant calling, disease prediction, genome improving accuracy in sequence assembly, and personalized medicine, alignment, variant calling, and disease making AI a powerful tool in genomics prediction while reducing computational research. costs. The objective is to create an efficient, scalable, and interpretable AI- V. CONCLUSION driven genome sequencing pipeline to aid in personalized medicine and genomic DNA genome sequencing has significantly research. advanced with the integration of Deep Learning (DL) and Machine Learning IV. EXPECTED SOLUTION (ML). These technologies enhance accuracy, speed, and efficiency in learning method." Nature Communications 15, analyzing vast genomic datasets. DL no. 1 (2024): 1243. 8. Bhosale, Yogesh H., and K. Sridhar Patnaik. models, such as Convolutional Neural "Bio-medical imaging (X-ray, CT, ultrasound, Networks (CNNs) and Recurrent Neural ECG), genome sequences applications of deep Networks (RNNs), excel in recognizing neural network and machine learning in complex genetic patterns, while ML diagnosis, detection, classification, and algorithms assist in feature extraction, segmentation of COVID-19: a Meta-analysis & systematic review." Multimedia Tools and mutation detection, and disease prediction. Applications 82, no. 25 (2023): 39157-39210. The combination of these techniques 9. Ahmad, Azeem, Ramith Hettiarachchi, improves personalized medicine, drug Abdolrahman Khezri, Balpreet Singh discovery, and evolutionary studies. Ahluwalia, Dushan N. Wadduwage, and Rafi Despite challenges such as data privacy, Ahmad. "Highly sensitive quantitative phase microscopy and deep learning aided with computational costs, and model whole genome sequencing for rapid detection interpretability, ongoing research of infection and antimicrobial resistance." continues to refine these methods. With Frontiers in Microbiology 14 (2023): 1154620. continuous advancements, DL and ML 10. Hossain, Prommy Sultana, Kyungsup Kim, Jia will play a crucial role in revolutionizing Uddin, Md Abdus Samad, and Kwonhue Choi. "Enhancing taxonomic categorization of DNA genomic analysis, leading to sequences with deep learning: A multi-label breakthroughs in healthcare, approach." Bioengineering 10, no. 11 (2023): biotechnology, and genetics. 1293. 11. Nikolados, Evangelos-Marios, and Diego A. REFERENCES Oyarzún. "Deep learning for optimization of protein expression." Current opinion in 1. Ajax, Raymond, and Mathew Gimah. "AI- biotechnology 81 (2023): 102941. Driven Precision Medicine: Harnessing Big 12. Özgür, Su, and Mehmet Orman. "Application Data and Machine Learning to Tailor of deep learning technique in next generation Treatments in Genomic Healthcare." (2025). sequence experiments." Journal of Big Data 2. Kiouri, Despoina P., Georgios C. Batsis, and 10, no. 1 (2023): 160. Christos T. Chasapis. "Structure-Based 13. Ren, Yunxiao, Trinad Chakraborty, Swapnil Approaches for Protein–Protein Interaction Doijad, Linda Falgenhauer, Jane Falgenhauer, Prediction Using Machine Learning and Deep Alexander Goesmann, Anne-Christin Learning." Biomolecules 15, no. 1 (2025): 141. Hauschild, Oliver Schwengers, and Dominik 3. Shiraj, Tasnim Binte, and Mohammad Abu Heider. "Prediction of antimicrobial resistance Yousuf. "A Study to Classify Virus Genome based on whole-genome sequencing and Through Analyzing DNA Sequences Using machine learning." Bioinformatics 38, no. 2 Transformer Model." In 2024 6th International (2022): 325-334. Conference on Electrical Engineering and 14. Danilevsky, Artem, Avital Luba Polsky, and Information & Communication Technology Noam Shomron. "Adaptive sequencing using (ICEEICT), pp. 1275-1280. IEEE, 2024. nanopores and deep learning of mitochondrial 4. Wall, Brydon PG, My Nguyen, J. Chuck DNA." Briefings in Bioinformatics 23, no. 4 Harrell, and Mikhail G. Dozmorov. "Machine (2022): bbac251. and deep learning methods for predicting 3D 15. Millán Arias, Pablo, Fatemeh Alipour, genome organization." ArXiv (2024). Kathleen A. Hill, and Lila Kari. "DeLUCS: 5. Yao, Zhaomin, Fei Li, Weiming Xie, Jiaming Deep learning for unsupervised clustering of Chen, Jiezhang Wu, Ying Zhan, Xiaodan Wu, DNA sequences." Plos one 17, no. 1 (2022): Zhiguo Wang, and Guoxu Zhang. "DeepSF- e0261531. 4mC: A deep learning model for predicting 16. Ashrafuzzaman, Md. "Artificial intelligence, DNA cytosine 4mC methylation sites machine learning and deep learning in ion leveraging sequence features." Computers in channel bioinformatics." Membranes 11, no. 9 Biology and Medicine 171 (2024): 108166. (2021): 672. 6. Goshisht, Manoj Kumar. "Machine learning 17. Mostafa, Bossy M., Noha El-Attar, Samy Abd- and deep learning in synthetic biology: Key Elhafeez, and Wael Awad. "Machine and deep architectures, applications, and challenges." learning approaches in genome." Alfarama ACS omega 9, no. 9 (2024): 9921-9945. Journal of Basic & Applied Sciences 2, no. 1 7. Li, Jinsen, Tsu-Pei Chiu, and Remo Rohs. (2021): 105-113. "Predicting DNA structure using a deep 18. Schmidt, Bertil, and Andreas Hildebrandt. "Deep learning in next-generation sequencing." Drug discovery today 26, no. 1 (2021): 173-180. 19. Zhang, Jinny X., Boyan Yordanov, Alexander Gaunt, Michael X. Wang, Peng Dai, Yuan- Jyue Chen, Kerou Zhang et al. "A deep learning model for predicting next-generation sequencing depth from DNA sequence." Nature communications 12, no. 1 (2021): 4387. 20. Busia, Akosua, George E. Dahl, Clara Fannjiang, David H. Alexander, Elizabeth Dorfman, Ryan Poplin, Cory Y. McLean, Pi- Chuan Chang, and Mark DePristo. "A deep learning approach to pattern recognition for short DNA sequences." BioRxiv (2018): 353474.
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