3-IJCI Vol. 3 No. 9-Sept 2024-Paper2-Ms. Rahaf

AI Powered Bioinformatics - Expediting Diagnostic
Testing: A Survey
Rahaf Bajhzer and Mona Alghamdi
King Abdulaziz University, Kingdom of Saudi Arabia
rbajhzer0001@stu.kau.edu.sa
Salma Elhag
Associate Professor, King Abdulaziz University, Kingdom of Saudi Arabia
Abstract
Research has demonstrated the positive impact of artificial intelligence and
Bioinformatics in the field of clinical diagnosis. The integration of AI methodologies
into bioinformatics has opened new avenues for breakthroughs in genomics,
proteomics, and personalized medicine. The document emphasizes the role of AI in
early disease detection, improving patient outcomes, and enhancing healthcare
systems by avoiding the need for expensive and time-consuming operations as
illnesses worsen. The methodology section provides insights into the approach
utilized, including the review of 30 articles from highly regarded journals about AI
and bioinformatics that expedite diagnostic testing in the medical field. using survey
to gather information and divide it into sub-sections focusing on diagnostic cancer
diseases, COVID-19, and genetic and chronic diseases. The survey gathered 52
responses, and the results revealed significant agreements with the findings in the
papers, particularly in the importance of developing novel biosensors and diagnostic
tools for rapid and accessible detection of SARS-CoV-2, and the potential of AI in
laboratory settings, pharmaceutical industry, and disease diagnosis. Overall, the
document provides a comprehensive overview of the transformative role of AI in
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International Journal of Computers and Informatics, London Vol (3), No (9), 2024
https://doi.org/10.59992/IJCI.2024.v3n9p2 E-ISSN 2976-9361
bioinformatics, emphasizing its potential to revolutionize disease diagnosis,
treatment, and public health decision-making, while also addressing the challenges
and opportunities associated with the integration of AI technologies in the healthcare
industry. The rigorous methodology and alignment of survey results with the
research findings validate the significance of AI-powered bioinformatics in
expediting diagnostic testing and improving patient safety in healthcare.
Keywords: Artificial Intelligence, Diagnosing, AI Powered Bioinformatics.
1. Introduction
In recent years, the field of Bioinformatics has witnessed a remarkable
transformation, driven in large part by the rapid advancements in Artificial
Intelligence (AI) technologies. Bioinformatics, at its core, involves the use of
computational methods to gather, store, analyze, and interpret biological data. This
interdisciplinary field plays a crucial role in deciphering complex biological
processes, understanding genetic variations, and accelerating drug discovery.
Among many other applications, this integration of AI methodologies into
Bioinformatics has opened up new avenues for breakthroughs in genomics,
proteomics, and personalized medicine. Artificial intelligence (AI) has been widely
used in the biomedical field for almost 20 years due to a number of variables,
including improvements in computational techniques, the availability of high-
performance computing hardware, and the creation of massive community-based
databases. Artificial intelligence is highly proficient at processing massive amounts
of complex data and extracting features from it that the human mind is incapable
of recognizing. As a result, the biomedical field's research on AI applications has
advanced and reached performance levels comparable to those of human
professionals. AI will also provide human professionals with more knowledge for
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decision-making and become a vital part of the medical team [7]. The use of AI in
healthcare is growing and permeating every aspect of medicine and daily life.
Examples of this include diagnostic algorithms and smart health trackers. Artificial
intelligence (AI) programs designed to assist clinicians in diagnosis, treatment
selection, and outcome prediction are considered to be at the forefront of medical
AI development. These systems include evolutionary computation, fuzzy expert
systems, hybrid intelligent systems, and artificial neural networks (ANN) [8].
Technology has had a tremendous impact on the healthcare industry. and early
disease detection is a major priority. This is critical and can benefit the entire
healthcare system, in addition to helping specific individuals. Early disease
detection is similar to a road map for improved patient outcomes. and the therapies
frequently function better, are safer, and are simpler. Additionally, it benefits
healthcare systems by avoiding the need for expensive and time-consuming
operations as illnesses worsen [5]. Artificial intelligence and bioinformatics
techniques are essential components of the effective response to the new Corona
illness. As a result, AI can be extremely helpful in guaranteeing that policies,
management, and resource allocation result in long-term solutions for the area’s
most negatively affected by the COVID-19 epidemic [1]. Biopharmaceutical and
artificial intelligence (AI) have found useful uses in many therapeutic areas,
especially in supporting the diagnosis and prevention of disease. Their integration
has made progress possible in some healthcare domains, including the creation of
preventive strategies and more rapid and precise disease identification. The use of
various AI-derived technologies was critical in diagnosis, treatment exploration, and
improving public health decision-making during the pandemic's difficult period
when healthcare resources were scarce. This increased the pandemic's potential to
be fought. Numerous AI-based methods that include the COVID-19 diagnostic tools
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have been developed. Large volumes of data are gathered using quick, consistent
processes and clever algorithms used by AI. This enables the software to
automatically learn from options or trends within the knowledge base and make
the greatest use of the resources available for the population. AI techniques and
tools automate the process of determining the underlying reason and frequently
assist policymakers in creating appropriate rules and regulations. The history,
dissemination, treatment, and management procedures of viruses can be swiftly
uncovered by AI text and data processing techniques [3]. Despite advances in
research and treatment, oral cancer (OC), one of the most prevalent types of head
and neck cancer, still has the lowest global survival rates. In the biomedical sector,
the prognosis for OC has not changed much in recent years, which continues to be
a difficulty. Artificial intelligence (AI) has advanced quickly in the field of oncology,
with some noteworthy achievements recently announced. The use of deep learning
algorithms has advanced the field of oncology significantly. By helping pathologists
accurately classify cancer into several categories, these intelligent tools enable the
oncology team to plan a therapy module, which lessens operational workload and
improves disease management. Additionally, deep learning models enable medical
professionals to categorize patients into various risk groups in order to choose the
best course of action [23]. Currently, the most demanding area of computer-aided
diagnosis and treatment research is the development of genomic technologies for
smart diagnosis and therapeutics for diverse diseases. Technological advances in
artificial intelligence and machine learning have the potential to detect problems
facing the healthcare sector. Future diseases, including diabetes, Alzheimer's, and
cancer, may be predicted thanks to genomics. Innovations in machine learning have
spurred new areas of computational biology and accelerated the pace of biomedical
informatics research. Classification models are crucial in many sectors because, in
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addition, understanding gene interactions has led to the development of more
precise models that can successfully identify patterns in enormous amounts of data.
Recurrent neural network models have a memory that enables them to assimilate
genetic data and swiftly recall information from past cycles
[24].
The aim of the paper is to summarize the relevant literature and evaluate the
potential of artificial intelligence (AI) to improve patient safety in healthcare. The
review aims to identify studies that describe the application of AI for the prediction,
prevention, or early detection of adverse events in each cancer disease, COVID-19,
and genetic and chronic diseases. Additionally, the paper aims to consider the
findings in the context of incidence, cost, and preventability to make projections
about the likelihood of AI improving safety in healthcare.
This paper employs a mixed-methods approach, intertwining quantitative analysis
for numerical data and qualitative exploration for rich contextual insights, to
comprehensively examine AI-POWERED BIOINFORMATICS: EXPEDITING
DIAGNOSTIC TESTING from multiple dimensions. Accordingly, this paper was
divided into five sections, including the literature review, methodology, results,
discussion, and lastly, the conclusion section.
2. Literature Review
This section discusses related work in the field of AI-powered bioinformatics to
expedite the diagnosis of diseases.
2.1. In COVID-19 Diagnostics
Pillai and Kumar utilized big data analysis and various AI techniques to curb the
unplanned spread of the COVID-19 pandemic [1]. The study employed regression
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models, machine learning, and deep learning on datasets comprising social media
conversations, digital health records, contact-tracing mobile applications, robotic
platforms, pictures, and thermal sensors. The research highlights AI's role in
emulating human intellect to screen, evaluate, predict, and track current and
potential future patients, thus demonstrating the potential of AI to improve
healthcare facilities and mitigate the economic impact of viruses on society. Pandit
and Banday et al. developed a deep learning model to automatically identify COVID-
19 from chest radiographs [2]. The study employed the pre-trained VGG-16 model
for classification tasks and utilized transfer learning with fine-tuning on a relatively
small dataset of chest X-rays. Data augmentation techniques were also employed
to enhance the dataset. The model demonstrated promising results in COVID-19
identification, with high accuracy rates observed in preliminary testing. Wang and
Chavda et al. utilized bioinformatics techniques to decode the genome structure of
the SARS-CoV-2 virus [3]. Next-generation sequencing and computer-aided drug
design were employed to analyze evolutionary relationships, sequencing errors,
and potential treatment options against SARS-CoV-2 genes. The study highlights the
role of AI and bioinformatics in enhancing our understanding of the virus's
pathophysiology, treatment options, and mechanisms of increased host immune
response to antibiotic resistance. Alshazly et al. utilized advanced deep network
architectures and transfer learning for diagnosing COVID-19 from chest CT images
[11]. They achieved superior performance on the SARS-CoV-2 CT-scan and
COVID19-CT datasets compared to prior studies, with high accuracy, precision,
sensitivity, specificity, and F1-score values. Visualization techniques provided visual
explanations for predictions, enhancing understanding of COVID-19-associated
regions. Yadav et al. explored the use of biomarker-based electrochemical
immunosensors in the diagnosis and management of COVID-19 [12]. These sensors
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offer a sensitive, selective, and low-cost method for detecting specific biomarkers
associated with the disease, facilitating rapid and non-invasive diagnosis. Hossain
et al. discussed the significant impact of AI, particularly machine learning, in
exploring and developing diagnostic tools and biosensors for COVID-19 [14]. AI has
accelerated analysis, increased accuracy, and enabled the development of
intelligent global networks for real-time data analytics, improving resilience to
testing errors and facilitating early detection and management of the disease. Behl
et al. discussed the role of bioinformatics in accelerating the drug discovery process
and managing the COVID-19 pandemic [18]. Bioinformatics methods were
highlighted for information gathering, preliminary investigations, sequence
analysis, computational modeling, and prediction of sequence properties. The
review emphasized the positive outcomes of bioinformatics in identifying drug
targets, validating targets, and managing the COVID-19 pandemic through next-
generation sequencing, genome-wide association studies, and computer-aided
drug design. Mohammed conducted an in-depth analysis of AI's use in COVID-19
research and vaccine development [20]. Louati and Lahyani et al. introduced a novel
method combining genetic algorithms and neural architecture search to enhance
CNN design for more precise detection of COVID-19 infections while minimizing
computing load [21]. Their study utilized a dataset of 1319 COVID-negative and
1184 COVID-positive chest X-ray images. Results demonstrated improved accuracy
in COVID-19 diagnosis, setting a benchmark for efficient healthcare solutions with
reduced environmental impact. The analysis covered AI applications in rapid data
analysis, research surfacing models, protein structure prediction, collaborative
efforts, customer communication enhancement, viral spread mapping, research
acceleration, and vaccine ingredient proposal. AI's contributions to understanding
the virus's spread, diagnosing infections, developing treatments, and predicting
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vaccine efficacy were highlighted. Kim and Choi et al. developed a diagnosis model
integrated into an automated triage pipeline for assessing chest radiographs for
COVID-19 pneumonia [25]. The model achieved a 95% diagnosis accuracy,
highlighting its potential as a valuable tool for efficient and accurate diagnosis in
clinical settings. Calidonio and Hamad-Schifferli utilized machine learning (ML) to
optimize a paper immunoassay for detecting COVID-19 antibodies [26]. They
achieved 100% test accuracy through iterative modification of test conditions using
linear discriminant analysis (LDA) and ML. The optimized test was trained to
distinguish nine distinct antibody profiles, including vaccinated and infected
profiles.
2.2. In Cancer Diagnostics
Rabaan and Bakhrebah et al. conducted a systematic review of AI approaches,
including machine learning and deep learning algorithms, for clinical data analysis
in prostate cancer diagnosis [4]. The study utilized datasets such as prostate-specific
antigen (PSA), MRI-guided biopsies, genetic biomarkers, and Gleason grading for
patient monitoring, risk assessment, and diagnosis. AI-powered technology showed
potential to simplify and accelerate prostate cancer diagnosis and treatment by
creating complex associations between prediction variables and other known
parameters. Deepa and Arunkumar et al. reviewed deep learning techniques,
including convolutional neural networks (CNNs) and recurrent neural networks
(RNNs), for analyzing data and images in cancer diagnosis [5]. The study emphasizes
AI's advantage over conventional techniques in early detection of skin, lung, and
breast cancers, leading to quicker and more accurate discovery of abnormalities.
The research suggests that AI technology holds promise for improving cancer
diagnosis, enabling early treatments, and ultimately extending human lifespan.
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Elhadary and Elshoeibi et al. conducted a critical assessment of machine learning
applications in CLL diagnosis, utilizing various data sources including blood smears,
flow cytometry, histological pictures, and genetic information [6]. A targeted panel
of cancer-associated genes was also analyzed using next-generation sequencing.
The literature search yielded 169 articles, of which 14 met the inclusion criteria after
screening. Results showed that most machine learning models performed well in
predicting CLL diagnosis, with top models achieving high AUROC, sensitivity, and
specificity. For instance, one model achieved an AUROC of 99.7%, sensitivity of
96.4%, and specificity of 98.8% in separating CLL from healthy cases. Shao and Dai
et al. surveyed AI processes in the biomedical field and examined strategies and
uses of AI in cancer clinical research, categorized by types of data such as medical
records, cancer genomes, radiographic imaging, pharmacological information, and
biomedical literature [7]. They highlighted the establishment of centralized, publicly
accessible knowledge bases like TCGA, providing clinical and molecular data for
researchers and clinicians. The study anticipates that AI will play a crucial role in
accelerating cancer diagnosis, treatment, and possibly even finding a cure.
Moreover, they anticipate broader accessibility of AI technology in cancer
treatment, aiming to increase treatment responses, reduce side effects, and
improve survival rates. Khanagar and Alkadi et al. conducted a systematic review
evaluating AI's role in histopathological image-based diagnosis, classification, and
prognosis of oral cancer [23]. The review highlighted the high accuracy and
specificity of AI models in diagnosing oral cancer, outperforming current clinical
approaches and enhancing diagnostic precision. Guo et al. conducted
bioinformatics analysis in esophageal adenocarcinoma (EAC) research [27]. They
employed methods such as Weighted Gene Co-Expression Network Analysis
(WGCNA), Gene Ontology (GO) and Pathway Enrichment Analysis, and Protein-
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Protein Interaction (PPI) Network Construction to identify key genes associated
with EAC. The study also developed a risk score prognostic model based on the
identified genes, achieving significant predictive accuracy for patient survival.
2.3. In Genome Interpretation Diagnostics
Feleke et al. employed Particle Display (PD) and Machine Learning (ML) models to
predict high-affinity DNA aptamers for diagnostic and therapeutic purposes [13].
ML-guided mutation and experimental screening facilitated the discovery of high-
performing aptamers, demonstrating the potential of combining ML and physical
approaches in biomolecule design. Kumar and Sharma highlighted the contribution
of deep learning in bioinformatics, particularly in areas such as image recognition,
genomics, and medical imaging [15]. Deep learning algorithms, inspired by the
human brain, analyze data, create patterns, and improve methodologies with
experience, leading to more accurate outcomes and better understanding of
complex biological processes. De La Vega et al. utilized an AI-based clinical decision
support system called Fabric GEM to expedite genome interpretation for rare
genetic diseases [16]. The study integrated predictive methods with the growing
knowledge of genetic diseases, employing AI methods for variant prioritization and
disease gene identification. The use of AI facilitated improved diagnostic
performance and the identification of new diagnoses in previously unsolved cases.
The Department of Thoracic Surgery at Qilu Hospital, Shandong University, China,
conducted a study to identify specific genes and potential pathways associated with
EAC [17]. The study utilized bioinformatics methods for data acquisition,
preprocessing, identification of differentially expressed genes (DEGs), weighted
correlation network analysis (WGCNA), gene ontology and pathway analysis,
protein-protein interaction (PPI) network analysis, and establishment of a
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prognostic model. Key findings included the identification of genes with diagnostic
and therapeutic potential for EAC, as well as the development of a prognostic
model. Srinivasu and Shafi et al. utilized gene sequences to predict type 2 diabetes,
employing neural networks with GRU, LSTM, and RNN components [24]. Their study
demonstrated fair accuracy in predicting future illnesses, suggesting the model's
potential applicability in practical settings. Zhao et al. evaluated computational
tools like Phen2Gene and Phenolyzer for gene prediction and prioritization in
single-gene diseases [28]. Phen2Gene demonstrated superior accuracy in
identifying causal genes compared to Phenolyzer. The study highlighted the
potential of computational tools in assisting targeted sequencing to identify
disease-causing variants. Shu et al. discussed various genomic technologies such as
short-read genome sequencing (SR-GS), long-read genome sequencing (LRS), and
optical genome mapping (OGM) for identifying causes of rare diseases and
unraveling complex genetic mechanisms [30]. The study highlighted clinical
diagnosis-driven genetic analysis strategies for prioritizing genetic analysis and
expediting diagnostic success in rare diseases.
2.4. Role of Bioinformatics in Healthcare in General
Taran Undru and Utkarsha Uday et al. conducted a review of research papers
focusing on the application of deep learning in clinical microbiology [8]. Bates et al.
conducted a scoping review on the potential of AI to improve patient safety in
healthcare [19]. The review mapped AI applications to various harm domains and
highlighted examples of AI being used for prediction, prevention, or early detection
of adverse events. The study emphasized the role of AI in enhancing patient safety
through swift identification of patterns, research surfacing models, protein
structure prediction, collaborative efforts, customer communication enhancement,
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and viral spread mapping. Ijaz and Nabeel et al. conducted a survey analyzing the
use of cough sounds and AI-based models to detect and diagnose respiratory
disorders early [22]. Their findings suggest AI's potential in creating clinical decision
support and diagnostic tools, aiding healthcare professionals in traditional medical
procedures. Jamshidi et al. integrated edge computing (EC), deep learning (DL), and
the Internet of Medical Things (IoMT) to improve efficiency and productivity in the
pharmaceutical industry [29]. Their approach aimed to reduce the risk of COVID-19
infection and advance drug discovery and molecular diagnostics using innovative
technologies like multicolor multicycle molecular profiling (M3P).
2.5. In Genetic Chronic Diseases Diagnostics
Lily Zhuhadar and Miltiadis D. Lytras developed an open-source, cloud-based
framework for generating highly accurate prediction classification models [9]. Using
the Pima Indian Diabetes dataset, they applied AutoML to identify the top nine
models for diabetes diagnosis prediction. The generalized linear model showed
remarkable predictive power in diagnosing diabetes. Their research highlights the
effectiveness of AutoML advancements in identifying risk factors, optimizing
treatment plans, and ultimately improving patient outcomes. Emily Kogan and Eva-
Maria Didden et al. They created a machine learning model called XGBoost, a
gradient boosting model, using data from a patient-level electronic health record
(EHR) database in the United States [10]. By incorporating various patient
characteristics and health-related data into the model, they aimed to predict
patients at risk of pulmonary hypertension (PH) early on. Their initial findings
suggest that the ML model achieved a high area under the receiver operating
characteristic curve (AUROC), indicating its potential to facilitate early prediction of
PH risk. This could lead to quicker referrals to specialists and improved patient
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outcomes in primary care settings. They found that huge datasets in clinical
microbiology can be leveraged to construct AI diagnoses, and deep learning
algorithms are increasingly being applied across various medical vocations. These
algorithms can enhance diagnosis sensitivity and accuracy while reducing
turnaround times.
3. Methodology
After reviewing 30 articles from highly regarded journals about artificial intelligence
and bioinformatics that expedite diagnostic testing in the medical field. In this
paper, we used the survey to collect information and analyze the results based on
this information. And then we divided it into sub-sections: diagnostic COVID-19,
cancer diseases, and genetic and chronic diseases. We wrote 13 questions to study
the efficiency and effectiveness of artificial intelligence and bioinformatics
techniques to accelerate the diagnosis of Corona, cancer, and genetic and chronic
diseases and develop the necessary treatments and vaccines. And discover the
strengths and weaknesses of these technologies and their impact on the
sustainability of the medical field in general, which are:
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Table 1. Questions to study the efficiency and effectiveness of AI and bioinformatics techniques.
Section Question
The main challenges experienced by laboratory professionals in meeting the sudden and
urgent testing demands for COVID-19?
COVID-19 How important do you think the development of novel biosensors and diagnostic tools is for
rapid and accessible detection of SARS-CoV-2?
Do you think that the combination of artificial intelligence and bioinformation helped to
decipher SARS-CoV-2 structure of the Coronavirus?
Genome What do you think about using deep learning algorithms to extract properties from DNA
Interpretation sequences, that help in the interpretation of genetic variation and the development of
genome-based treatments?
Do you think Artificial intelligence helped in laboratory settings? By applied to predict,

prevent, and detect adverse events such as healthcare.
Do you think that artificial intelligence helped the laboratory generate a large amount of data,
General which contributed to the field of the pharmaceutical industry in terms of (drug discovery,
question development, manufacturing, and marketing)?
The most challenges encountered in training machine learning models using large sample
pools in the laboratory, and how did these challenges affect the evaluation and effectiveness
of the models?
From your point of view, do you think that applying machine learning models has helped
diagnose leukemia through analysis of blood smears, flow cytometry, and genetic
information?
Do you think the use of machine learning algorithms has effectively contributed to the early
diagnosis of prostate cancer using genetic biomarkers?
Cancer Is artificial intelligence highly skilled at processing huge amounts of complex data in the
biomedical field and extracting features from it that the human mind cannot recognize?
How have AI techniques, such as machine learning, contributed to the diagnosis of diabetes
patients through the analysis of blood glucose levels and calculate body mass?
Chronic Has the use of intelligence contributed to determining the appropriate dose of insulin to treat
diseases diabetics?
Do you agree that the machine learning model performed well in early detection of
pulmonary hypertension and helped improve patient outcomes?
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4. Results
After we collected 52 responses table 2 showed the result of responses by
percentage.
Table 2. Show The Results
Questions Answers Percentage
Limited availability of testing
supplies and equipment 25%
The main challenges experienced by Overwhelming.
laboratory professionals in meeting the
Lack of volume of samples to
sudden and urgent testing demands for 25%
process.
covid-19?
Shortage of trained personnel to
50%
conduct tests.
Yes, he contributed effectively
82.7%
and clearly.
Do you think artificial intelligence helped in
laboratory settings? By applied to predict, I don't know, we are still working 3.8%
prevent, and detect adverse events such as in traditional ways.
healthcare.
No, I think the results are not 13.5%
100% correct.
Yes, he has contributed to
Do you think that artificial intelligence identifying potential drug 88.5%
helped the laboratory generate a large candidates and predicting their
amount of data, which contributed to the effectiveness and safety.
field of the pharmaceutical industry in
terms of (drug discovery, development, Sometimes, some fields lack
11.5%
manufacturing, and marketing)? good databases to collect
information.
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Helps allocate resources to areas
17.3%
with higher infection rates.
How important do you think the Early identification of infected

development of novel biosensors and individuals, leading to 67.3%
diagnostic tools is for rapid and immediate isolation and
accessible detection of sars-cov-2? treatment.
Smartphone-based platforms
provide instant and flexible
health information, creating a 15.4
more efficient system. %
Do you think that the combination of Yes, the process was greatly
facilitated. 96.2%
artificial intelligence and bioinformation
helped to decipher the sars-cov-2 No, it did not help decipher the
structure of the corona virus? SARS-CoV-2 structure. 3.8%
The small number of positive

samples creates high variation in 13.5%
The most challenges encountered in
training machine learning models using results.
large sample pools in the laboratory, 38.5%
Difficulty in accessing
and how did these challenges affect the
information easily.
evaluation and effectiveness of the
48.1%
models? Lack of sufficient experience and
training.
Rapid detection of hereditary
What do you think about using deep diseases by analyzing hereditary
88.5%
learning algorithms to extract properties diseases in the family using DNA.
from DNA sequences, that helps in the
interpretation of genetic variation and Genomic data is highly sensitive,
the development of genome-based and scientists need to navigate
treatments? ethical and privacy concerns 11.5%
when using deep learning for
genomic analysis.
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From your point of view, do you think
that applying machine learning models Yes, I agree. 94.2%
has helped diagnose leukemia through
analysis of blood smears, flow No, I do not agree.
cytometry, and genetic information? 5.8%
Do you think the use of machine Yes, it contributed to an early

learning algorithms has effectively 94.2%
diagnosis.
contributed to the early diagnosis of
prostate cancer using genetic 1) No, it did not contribute to an 5.8%
biomarkers? early diagnosis.
Yes, AI applications have
advanced and reached
Is artificial intelligence highly skilled at 86.5%
performance levels comparable
processing huge amounts of complex to those of human
data in the biomedical field and professionals.
extracting features from it that the 13.5%
human mind cannot recognize? No, human professionals
perform better than artificial
intelligence.
Helped in simplifying the process
of creating predictive models of
How have AI techniques, such as 67.3%
diabetes diagnosis.
machine learning, contributed to the
diagnosis of diabetes patients through Contributes to sustainability in
the analysis of blood glucose levels and healthcare through its resource- 32.7 %
calculate body mass? efficient.
None of the above. 0%

Yes, this leads to maximizing
Has the use of artificial intelligence treatment plans and improving 92.3%
contributed to determining the patient outcomes.
appropriate dose of insulin to treat
diabetics? No, it does not contribute to 7.7%
improving treatment plans.
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Yes, help in the early predictive
diagnosis of heart failure, 90.4
Do you agree that the machine learning shortness of breath, and atrial %
model performed well in early detection fibrillation.
of pulmonary hypertension and helped
improve patient outcomes? No, it does not have the ability
to diagnose pulmonary 9.6
hypertension. %
5. Discussion
The results of the survey showed great agreement with the results of the papers.
5.1. In Corona, the Results Appeared
Artificial intelligence and bioinformation greatly facilitated the decipherment of the
sars-cov-2 structure of the Coronavirus. This indicates the efficiency and
effectiveness of artificial intelligence and bioinformation in quickly diagnosing the
Coronavirus, lessening the workload for physicians, and helping in the development
of the necessary treatments and vaccines. AI serves as a cutting-edge weapon in
the battle against pandemics and stopping their spread.
5.2. In Cancer, the Results Appeared
The results demonstrated the role of artificial intelligence and its effective
contribution to the rapid diagnosis of cancers, such as machine learning algorithms
that have effectively contributed to the early diagnosis of prostate cancer using
genetic biomarkers. And machine learning models have helped diagnose leukemia
through analysis of blood smears, flow cytometry, and genetic information. So,
artificial intelligence aids therapeutic decision-making, outcome prediction,
reducing costs, and the more human-like problem-solving of complicated issues.
Because it is highly skilled at processing huge amounts of complex data in the
biomedical field and extracting features from it that the human mind cannot
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recognize. Finally, AI has enormous potential to bring about a paradigm shift in the
field of healthcare.
5.3. In Genome Interpretation, the Results Appeared
Deep learning algorithms help to extract properties from DNA sequences, which
helps in the interpretation of genetic variation and the development of genome-
based treatments Which help in detecting genetic diseases faster.
5.4. In General Question, the Results Appeared
It was repeatedly mentioned that the lack of training and experience in using
machine learning tools using large samples leads us to the conclusion that the Lack
of training is one of the biggest problems facing laboratory specialists and is one of
the weaknesses that must be looked into. In the field of healthcare and the
pharmaceutical industry, the response was positive that artificial intelligence in
discovering diseases helped in the pharmaceutical industry.
5.5. In Genetic and Chronic Diseases, the Results Appeared
Machine learning has contributed to the diagnosis of chronic diseases such as
pulmonary hypertension and diabetes. This helps in the early predictive diagnosis
of heart failure, shortness of breath, and atrial fibrillation and the diagnosis of
diabetes through the analysis of blood glucose levels and the calculation of body
mass. Also, determine the appropriate dose of insulin for effective treatment.
Therefore, machine learning can identify risk factors, maximize treatment plans,
and improve patient outcomes. And because it simplifies the process of creating
predictive models, machine learning contributes to sustainability in healthcare
through its resource-efficient and less-invasive approach.
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5.6. Strengths and Weaknesses
1. The review by Sini V. Pillai and Ranjith S. Kumar (2021) underscores the
significant contribution of data-driven artificial intelligence (AI) to pandemic
management, highlighting its potential to alleviate the burden on physicians and
enhance various aspects of COVID-19 management in the public sphere.
2. M.K. Pandit and S.A. Banday et al. (2021) present an automatic detection system
for COVID-19 from chest radiographs using deep learning, offering a non-
contact, automated testing solution. However, the limited datasets for COVID-
19 detection may affect the accuracy of the model.
3. Jiao Wang and Vivek Chavda et al. (2023) advocate for the amalgamation of
bioinformatics and AI in COVID-19 management, emphasizing its potential to
expedite research and treatment development. Nevertheless, challenges such
as data quality, availability, privacy concerns, and model interpretability persist.
4. Ali A. Rabaan and Muhammed Bakhrebah et al. (2022) discuss AI's role in clinical
diagnosis and treatment of prostate cancer, highlighting its potential for
detection and improving treatment outcomes. However, concerns regarding
overlooking real positive cases and the necessity of human expertise in
detection remain.
5. R. Deepa and S. Arunkumar et al. (2023) propose AI-driven early cancer
detection combined with genetic data to enhance patient outcomes. Challenges
such as algorithm impartiality, data security, and ethical considerations are
acknowledged.
6. Mohamed Elhadary and Amgad Elshoeibi et al. (2023) examine machine
learning's potential in chronic lymphocytic leukemia diagnosis, emphasizing its
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ability to expedite the process and increase efficiency. However, challenges
related to information gaps, model validation, and ethical considerations are
highlighted.
7. Dan Shao and Yinfei Dai et al. (2021) explore AI's impact on cancer research,
acknowledging its potential to improve outcomes but noting challenges such as
data hunger, model opacity, and the gap between data science and healthcare.
8. Taran Undru and Utkarsha Uday et al. (2022) discuss AI's integration in clinical
and laboratory diagnosis, emphasizing its role in rapid diagnosis and therapeutic
decision-making. However, challenges including legal responsibility, data
processing, and bias are identified.
9. Lily Zhuhadar and Miltiadis D. Lytras (2023) review the application of AutoML
techniques in diabetes diagnosis, highlighting its potential benefits in expediting
diagnosis and treatment. Concerns about algorithmic bias, data privacy, and
model interpretability are raised.
10.Emily Kogan and Eva-Maria Didden et al. (2023) present a machine learning
approach to identifying patients with pulmonary hypertension using real-world
electronic health records, showcasing improved diagnosis and patient
outcomes. Challenges such as code-based algorithms and database limitations
are noted.
11.The study by H. Alshazly, C. Linse, E. Barth, and T. Martinet (2021) achieved state-
of-the-art performance in COVID-19 detection using deep learning and CT scans.
However, it falls short in accurately identifying and highlighting relevant regions
associated with COVID-19 in chest CT scans.
42
12.A.K. Yadav, D. Verma, A. Kumar et al. (2021) present perspectives on biomarker-
based electrochemical immunosensors, AI, and the Internet of Medical Things
for COVID-19 diagnosis and management. While they offer high sensitivity and
selectivity in biomarker detection, limitations include scarcity of SARS-CoV-2-
targeting immunosensors, time-consuming portable methods, and limited
exclusion capability.
13.M. Feleke, Jane Cunningham, Jonathan B. Parr, O.A., and J.B.P. (2021) discuss
machine learning-guided aptamer refinement and discovery, highlighting
significant efficiency enhancement. However, weaknesses include reliance on a
single test set, low AUC in models, limited training examples, and balancing
computational predictions with experimental validation.
14.D ARAFAT HOSSAIN, LISA M. SEDGER, AND JOHN CANNING (2021) offers a cross-
disciplinary view of testing and bioinformatic analysis of SARS-CoV-2 and other
respiratory viruses. Strengths include a concise overview of diagnostic
technologies and the importance of networked field diagnostics. Weaknesses
include false results due to sample sensitivity, small sample volumes limiting
detection accuracy, and challenges in obtaining realistic clinical data.
15.Harsh Kumar and Shweta Sharma (2021) discuss the contribution of deep
learning in bioinformatics, emphasizing its role in disease analysis, early
detection, and drug discovery. Weaknesses include debates over diagnostic
accuracy, challenges in data requirements, and risks of overfitting.
16.Francisco M. De La Vega et al. (2021) explore how AI enables comprehensive
genome interpretation for rare genetic diseases, integrating predictive
techniques and automation. Weaknesses include potential oversight of pipeline
43
effects, concerns over false positives, and limitations regarding trio-sequencing
requirements.
17.Weifeng Qi, Rongyang Li, Lin Li, Shuhai Li, Huiying Zhang, Hui Tian (2021) identify
key genes associated with esophageal adenocarcinoma and develop a
prognostic model for disease progression. Weaknesses include descriptive
analysis, small data size, and the need for further functional experiments.
18.Tapan Behl et al. (2021) discuss how bioinformatics accelerates data collection,
computational modeling, target identification, and drug discovery in the
pharmaceutical industry. Challenges in translational bioinformatics and effective
drug discovery are noted.
19.David W. Bates et al. (2021) present a comprehensive review of AI's role in
patient safety, though reliance on a single database and exclusion of non-English
articles may limit the scope of the study.
20.Ibrahim Ali Mohammed (2021) analyzes the use of artificial intelligence in
COVID-19 diagnosis, research, and vaccine development. Weaknesses include
limited interdisciplinary collaboration hindering innovation in AI-driven drug and
vaccine development for COVID-19.
21.Hassen Louati and Rahma Lahyani et al. (2024) present an advancement in
sustainable COVID-19 diagnosis by integrating artificial intelligence with
bioinformatics in chest X-ray analysis. Their methodology demonstrates
robustness adaptable to complex and diverse datasets for COVID-19 diagnosis.
However, an ongoing challenge persists in finding the optimal architecture for
deep convolutional neural networks (DCNN) in the dynamic deep learning field.
44
22.Aneeqa Ijaz and Muhammad Nabeel et al. (2022) explore leveraging artificial
intelligence for respiratory disease diagnosis using cough analysis. While AI
algorithms show high accuracy and speed in image and sound-based detection
techniques, weaknesses include struggles with capturing diverse and accurate
cough acoustics, privacy and security concerns, data collection issues, and
challenges in model interpretability.
23.Sanjeev B. Khanagar and Lubna Alkadi et al. (2023) conduct a systematic review
on the application and performance of artificial intelligence in oral cancer
diagnosis using histopathological images. Certain AI models show exceptional
performance, yet concerns about data protection, confidentiality, and possible
interpretation problems relying heavily on software for medical diagnosis are
raised.
24.Parvathaneni Naga Srinivasu and Jana Shafi et al. (2022) utilize recurrent neural
networks for predicting type-2 diabetes from genomic and tabular data. While
the method shows promise in precise prediction and matching with diseased
sequences, challenges include difficulty in working with extensive gene
sequence data, the need for comparison with other diagnostic methods, and
evaluation with more datasets.
25.Chris K. Kim and Ji Whae Choi et al. (2022) develop an automated COVID-19
triage pipeline using artificial intelligence based on chest radiographs and clinical
data. Strengths include practical implementation for clinical use, reduced bias in
AI models, and assistance to clinicians. Weaknesses include reliance on a training
set from the emergency department, the need for validation in real clinical
contexts, and improving model interpretability.
45
26.Mata Calidonio, J., & Hamad-Schifferli, K. (2024) propose an approach to use
machine learning to optimize paper immunoassays for SARS-CoV-2 IgG and IgM
antibodies. ML optimizes test conditions achieving high accuracy and
distinguishing distinct antibody profiles. Challenges include antibody
development, optimization hurdles, and the need for reagents to differentiate
disease variants.
27.Guo, K., Fu, X., Zhang, H., Wang, M., Hong, S., & Ma, S. (2021) predict the
postoperative blood coagulation state of children with congenital heart disease
using machine learning based on real-world data. Strengths include identifying
potential targets for diagnosis and treatment and establishing a prognostic
model. Weaknesses include limited ethnic diversity in data sources, descriptive
analyses, small data size, and the need for further validation.
28.Zhao et al. (2020) introduce Phen2Gene, a tool for rapid phenotype-driven gene
prioritization for rare diseases. It utilizes Human Phenotype Ontology terms and
the H2GKB database, offering open-source code, web server access, and a
RESTful API. While it handles noisy data, concerns exist regarding analysis speed
variability and the costliness of deploying DeepPVP on the cloud. Scalability is
hindered by limited datasets and the slow API of AMELIE 2. The paper lacks
extensive discussion on impact and trade-offs in accuracy, and further
exploration of scalability and cloud deployment is warranted.
29.Jamshidi et al. (2023) discusses the future of drug discovery, highlighting the
synergy of edge computing, the Internet of Medical Things (IoMT), and deep
learning. While innovative techniques show promise in advancing molecular
diagnostics and gene-expression investigations, bandwidth and processing limits
impede health data collection in IoMT, and security concerns arise with medical
46
data transfer. The lack of AI exacerbates pandemic challenges in health data
analysis, necessitating deep learning-based methods to support diverse IoMT
devices.
30.Shu et al. (2023) emphasizes the power of clinical diagnosis in deciphering
complex genetic mechanisms in rare diseases. Clinical diagnosis guides genetic
focus, accelerating testing and method development. However, limited focus on
coding regions hampers gene-disease association discovery, and genome-wide
sequencing often yields lower diagnostic rates than expected. Clinical
heterogeneity complicates genetic analysis, highlighting the need for advancing
functional assays to efficiently identify non-coding and mosaic variants.
6. Conclusion
This paper has provided a comprehensive examination of the role of artificial
intelligence in advancing the field of bioinformatics by applying the survey method,
consisting of 13 questions, to analyze the required results based on the 52
responses received., with a particular focus on its application in expediting the
diagnostic process for diseases such as COVID-19, cancer, and various genetic and
chronic. Through a meticulous review of 30 articles from highly regarded journals,
we have analyzed the efficiency and effectiveness of AI techniques in enhancing
diagnostic accuracy, speed, and overall healthcare delivery. Our findings
underscore the transformative potential of AI in laboratory settings, where it has
shown promise in predicting, preventing, and detecting adverse healthcare events.
Moreover, AI's contribution to the pharmaceutical industry is noteworthy,
particularly in drug discovery, development, manufacturing, and marketing, by
enabling the generation and analysis of large datasets to identify potential drug
candidates and predict their effectiveness and safety. The results highlight how
47
important AI in medicine. AI has improved general competency and precision,
decreased the subjectivity of the result, and allowed testing to be conducted with
fewer resources. And describe how effective they are in identifying risk factors,
maximizing treatment plans, and eventually improving patient outcomes. Artificial
intelligence algorithms have also proven their ability to analyze a huge sample size
from an extensive data source that includes settings for both primary and
specialized care. Recent substantial technological developments in AI algorithms
and data creation have mostly benefited the diagnostic and therapeutic domains.
Also, explore the role of AI and machine learning algorithms in harnessing medicine
and vaccines. Despite the optimism surrounding AI's capabilities, challenges such as
the shortage of trained personnel to conduct AI-powered tests and concerns about
the interpretability of AI tools persist. These issues highlight the need for ongoing
research, education, and investment in the development of AI in bioinformatics.
As we look to the future, AI holds the key to unlocking new frontiers in medical
diagnostics and treatment. By continuing to harness the power of AI and
bioinformatics, we can expect to see significant advancements in personalized
medicine, improved patient outcomes, and more efficient healthcare systems. The
journey is far from over, but the path forward is illuminated by the promising results
of AI applications in bioinformatics, as demonstrated by the research presented in
this paper.
Author Contributions Statement
Registration and protocol: The study was not published, and the protocol was not
registered.
Support: The paper did not require financial support or sponsors.
48
Conflicts of Interest: All authors of papers declare that they have no known
competing financial interests or personal relationships that could have appeared
to influence the work reported in this paper.
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AI Powered Bioinformatics - Expediting Diagnostic

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