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June 18, 2024

Machine Learning in Bioinformatics and Biology


Edwin Lisowski

CSO & Co-Founder

Reading time:

18 minutes

Machine learning has multiple applications in diverse fields, ranging from natural language processing to healthcare. Bioinformatics and biology-related disciplines have not been left behind in the revolution. Before machine learning emerged, these disciplines faced the problem of extracting valuable insights from large biological datasets. But as of today, ML techniques such as deep learning can learn the features of complex datasets and present them in a manner that is easy to understand.

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In this article, we are going to take a closer look at machine learning in bioinformatics and biology. But before that, let’s begin by having a quick look at what machine learning in biology and bioinformatics really mean.

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What is Machine Learning?

Machine learning is a subset of artificial intelligence that gives systems the ability to learn from data and perform tasks without being explicitly programmed. While this technology has been around for years, it is a recent development to apply complex mathematical calculations to big data. Below are some widely-used machine learning applications that you might already be familiar with:

  • Personalized product recommendations (Netflix, Amazon)
  • Fraud detection technology
  • Predictive algorithms widely used in business intelligence and industry 4.0 solutions
  • Online data analytics (Google Analytics) and marketing optimization tools

Of course, the list of examples is far longer, but that’s a different story.

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There are three main branches of machine learning models. These include:

  • Reinforcement Learning: This type of ML technique can observe and interpret its environment through complex mathematical calculations that require robust computer infrastructure. The computers use trial and error to devise sustainable solutions for complex problems, allowing the machine to learn from its mistakes. This technology has been used to design autonomous cars.
  • Supervised Learning: This technique uses labeled data sets to teach the machine how to classify data and accurately predict outcomes. It has a wide range of applications such as human resource allocation, spam filtering, fraud detection, and detection of malicious emails and links, among others.
  • Unsupervised Learning: As the name suggests, unsupervised machine learning does not use labeled data sets. Instead, models work on their own to unmask hidden data patterns and gain meaningful insights from them. It’s comparable to the human brain.

Subsets of Machine Learning

  • Deep Learning: It’s a machine-learning algorithm that extracts high-level features from raw input by imitating how the human brain works. Computer programs that use deep learning algorithms are comparable to a toddler learning how to identify different colors. However, unlike a toddler that takes weeks or months to identify the colors, deep learning algorithms use a training set that enables it to sort through millions of colors and identify each one of them within a few minutes.
  • Neural Networks: Just as the name suggests, neural networks are a series of neurons that aim to recognize the underlying relationship of a given set of data. They also mimic the way a human brain operates. Typically, a brain neuron receives an input that it processes to provide an output used by another neuron. The neural network uses the same principle to learn about a given data set and then predict the outcomes. It uses refined sets of data to perform analysis. The multiple layers in a neural network filter the information to give a refined output.

With the basics explained, let’s focus on bioinformatics.

deep learning in bioinformatics

What is bioinformatics?

Shortly put, bioinformatics is the application of computation and analysis techniques to capture and interpret biological data. It’s an interdisciplinry field between computer science, mathematics, statistics, biology, and genetics. Bioinformatics is mainly used to identify genes and nucleotides to understand genetic diseases better. It’s closely related to computational biology. Most people use the two terms interchangeably. But in the real sense, they are two distinct fields.

Let’s have a closer look at the two.

Bioinformatics VS. Computational Biology

Computational biology and bioinformatics are interdisciplinary approaches to life sciences. They draw from empirical disciplines such as information science, computer science, physics, and mathematics.

Both fields have emerged from the rapid growth of bio enterprise around the globe and are often used in research centers, laboratories, and colleges.

While the two disciplines may sound similar, they are distinct in the kinds of needs they address.

Below are some of the main differences between them for reference and clarification.

  • Bioinformatics seeks to solve biological issues by assessing, analyzing, and interpreting biodata. Bioinformatics professionals develop codes, algorithms, and models that record and store biological data. On the other hand, computational biology is concerned with finding solutions to issues that arise from bioinformatics studies.
  • Bioinformatics is used in fields such as molecular medicine, personalized medicine, microbial genome applications, preventive medicine, drug development, and climate change studies. Computational biology‘s applications include stochastic models, molecular medicine, oncology, animal physiology, and genetic analysis.

bionformatics technology

Machine Learning Applications in Biology and Bioinformatics


Genomics is an essential domain of bioinformatics that focuses on studying genome mapping, evolution, and editing. A genome is a complete set of genetic material found in an organism. There are three main subsets of genomics;

  • Regulatory genomics: It focuses on the study of how to regulate genomic expression. Machine learning applications in this branch of genomics include producing RNA-binding proteins and transcription factors and predicting and classifying gene expression.
  • Structural genomics: It seeks to characterize genome structures by utilizing computational and experimental techniques. Machine learning in bioinformatics helps in this section to classify protein structures, i.e., primary, secondary, and tertiary structures.
  • Functional genomics: In this section, researchers seek to describe gene functions and interactions. Machine learning in biology can help classify mutations and protein subcellular localization.
  • Machine learning methods combined with natural language processing have allowed researchers to analyze large amounts of genomics-related biological data. This way, they can easily solve problems such as relation extraction and named entity recognition.

Currently, the industry has a wide range of products and services in the commercial sector, thanks to machine learning. According to research, the industry is projected to reach a smashing 54.4 billion USD by 2025[1]. Some of the applications of the ML in genomics include:

Genome Sequencing

It plays a pivotal role in medical diagnostics. Machine learning empowered DNA sequencing techniques such as next-generation sequencing[2] has made it possible for researchers to sequence human genomes in a day, as compared to the traditional Sanger Sequencing Technology that took over a decade to sequence a human genome.

Gene Editing

Gene editing is the process of manipulating the genetic composition of an organism by inserting, deleting, or replacing a DNA sequence. It uses a technology called CRISPR[3], which is a faster and cheaper method of conducting the process.

However, researchers still need to do the legwork of selecting the right DNA sequence, which can be a long process susceptible to errors. Machine learning has come to the rescue by making it easier to identify the correct target audience, significantly reducing the cost and time required to perform gene editing.

Clinical Workflow

Machine learning has hugely impacted the clinical workflow process. For example, healthcare personnel has always had problems accessing patient data, which lies within electronic records, paper charts, and other sources. But with the development of ML-enabled technologies such as Intel’s Analytics Toolkit, healthcare facilities can now make the most out of patient data.



Proteomics is the study of protein components, their interactions with each other, and their roles in an organism. Mass-spectrometry-enabled proteomics has made it possible to analyze thousands of human proteins. However, computational and experimental challenges have restricted its progress, requiring informatics solutions such as machine learning to analyze and interpret massive biological data sets. Mass spectrometry is an analytical tool used to characterize biological samples and is used in omics studies due to its high throughput activities.

Mass spectrometry does not measure proteins directly in their conventional form. Instead, it splits them up into smaller chunks of amino acid sequences of about 30 building blocks. It then compares them with the database and assigns the amino acids to specific proteins. The results are not entirely accurate because some proteins are not recognized correctly.

Machine learning methods can be applied to identify a wide range of proteins from a given sample. They can be used on:

  • The mass spectral peaks: Samples are analyzed without finding out which proteins and peptides are present. Instead, peaks with high signal intensities are summed up as possible biomarkers.
  • Proteins recognized by sequence database searching- The sample analyzed is scanned for peptide masses that are then used to identify the proteins they relate to.

These techniques have been helpful in the diagnosis of different types of diseases and have an obvious advantage over traditional methods such as enzyme-linked immunosorbent assays (ELISAs), protein arrays, affinity separation, 2D gel electrophoresis, among others.

Recent advancements in the use of Machine learning in proteomics include the development of a software called Prosit[4]. It was used successfully by a team of researchers in the Technical University of Munich (TUM) to quickly recognize protein patterns without errors.


Microarrays are laboratory tools used to detect multiple gene expressions at a go. With the increasing popularity of genetic studies in animals, plants, and microbes, this technology is helpful in studying genome organization, gene expression, and chromatin structures.

A microarray is made up of different probes (DNA, RNA, tissues, proteins, and peptides) that correspond to gene segments placed in a specific arrangement, mostly on a silicon microchip or glass slide. The theory behind this technology is that complementary sequences will bind to each other under the right conditions, while non-contemporary ones will not bind. The level of hybridization between contemporary probes is indicated by fluorescence.

The level of complexity in microarray data sets is increasing at a rapid pace. Large-scale experiments require thousands of probes to be monitored simultaneously. Machine learning has made it easier to spot significant interactions involved in complex experiments. It has been used widely in microarray analysis, with gene classification and clustering being some of the most cited examples.

Neural Designer, for example, has made it possible for researchers to discover intricate relationships and identify complex patterns in microarray data by use of machine learning methods. And public databases such as Array Express records all the information about a microarray experiment, making it readily available for reuse by the research community.

Some of the applications of machine learning methods on microarrays include:

  • Gene Analysis: Analyzes changes in gene patterns to determine if they are normal or if a certain disease causes them.
  • Differentiate gene stages: Ascertains the circumstances that make genes mutate from normal to disease state.
  • Predict future gene stages: It develops models that can predict future gene changes using historical biological data.
  • Prevents diseases: It helps in the discovery of relationships between genes and diseases and uses predictive modeling for early diagnosis and preventive medicine.

Text Mining

Text mining is also referred to as text analytics. It’s a machine learning-powered technology that uses natural language processing to examine large volumes of documents and discover new information that helps answer research questions.

The increase in biological publications has made it difficult for researchers to search through different sources and compile relevant information on a given topic. Machine learning can work through different types of human-generated reports in databases to process and analyze data, reducing labor costs and speeding up the research process without compromising quality.

ML text analysis can be used in bioinformatics for:

  • Large scale protein and molecule interaction analysis
  • Translation of content into different languages
  • Searching for novel drug targets (since it requires the extraction of information stored in biological journals and data sets)
  • Automatic annotation of gene and protein functions
  • Analysis of DNA expression arrays

Systems Biology

Systems biology is the computational and mathematical analysis of the interactions and behavior of biological components such as molecules, cells, organs, and organisms. Computational modeling is a valuable tool used in this discipline. It uses mathematical modeling to capture the interactions between biological components and simulate the whole system’s behavior. However, it’s hard to build a steady mathematical model due to the complexity and lack of proper understanding of the underlying mechanisms.

But with the use of data-driven machine learning methods, it has become easier to model complex interactions in domains such as signal transduction networks, genetic networks, and metabolic pathways.

Machine learning is helpful in biological systems with sufficient biological data but not enough biological knowledge to develop theory-based models. A great example is the identification of the relationship between the phenotype and genotype of S. cerevisiae.

Even though there are many strains of characterized phonomes and genomes, there is still the unavailability of theory-based models that illustrate how the difference in genotypes dictates the strain phenotypes. Machine learning is used in this situation to establish the relationship between phenotypes and genotypes by training a supervised model with genomes as input and phenomes as an output. The interpretation of the resulting model gives hints on the critical genetic composition of the organism. It helps in the identification of the most crucial factors that contributes to the model’s predictive power.

bioinformatics and biology
One of the most used machine learning techniques in systems biology is the probabilistic graphical model. It figures out the structure between different variables and is used to model genetic networks. Another common technique is genetic algorithms. It’s based on the natural process of evolution and has also been used to model genetic networks and regulatory structures.

Machine learning is also used to solve systems biology problems such as the identification of transcription binding sites by the use of a technique called Markov chain optimization. A Markov Chain is a stochastic model that describes a sequence of possible events by relying on biological data obtained from previous events.

Machine Learning in Healthcare

Machine learning and artificial intelligence are being used extensively in healthcare facilities to improve patient care and enhance the quality of life. Soon, hospitals might be able to use machine learning-based technology to obtain real-time data from multiple healthcare systems in different countries, increasing the efficiency of treatment. Some of the main applications of ML in healthcare include:

Drug Discovery and Manufacturing

Machine learning is widely used in the early stages of drug discovery processes. Some of the research and development technologies used include precision medicine and next-generation sequencing. They have proven to be helpful in finding alternative options for multifactorial disease therapy.

Medical Imaging and Diagnosis

Deep learning and machine learning have been used on a breakthrough technology known as computer vision. The technology has found acceptance in a wide range of applications. An example is Microsoft’s InnerEye project that builds innovative tools for quantitative analysis of 3D medical images.

Personalized Medicine

Predictive analytics can be used on patient data to facilitate personalized treatment. Currently, doctors are limited to a specific set of diagnoses or are forced to estimate the risk of a disease on a patient based on their health history and limited genetic information. However, this could change soon because machine learning is making great strides in medicine by leveraging patient data to help generate a wide range of treatment options.

Stroke Diagnosis

Machine learning uses pattern recognition to help diagnose, treat, and predict complications in various neurological diseases. Over the past few years, Acute Ischemic Stroke (AIS) treatment has experienced significant advancement. Machine learning algorithms are now being used to predict motor deficits in stroke patients. The most commonly used methods are Support Vector Machines (SVM), and 3D Conventional Neural Network (CNN).


Machine Learning Tools Used in Bioinformatics and Biology


This is a deep-learning tool that is used in genome data mining. It can predict common genetic variations more accurately as compared to previous classical methods. DeepVariant is one of the first biological tools that leverage machine learning and Google’s computing to provide a scalable, cloud-based solution that satisfies the needs of the most complex genomics data sets.

Atomwise Algorithms

Atomwise is a biotech company based in San Francisco that developed the first deep learning-based algorithm that helps convert molecules to 3D pixels. This conversion helps in the study of the 3D structure of proteins and other molecules with atomic precision.

Also, it basically predicts molecules that can possibly interact with a specific protein. The algorithms are mainly used in drug discovery.

Cell Profile

In the past, biological imaging software could only measure a single parameter of a group of images. However, that has changed, thanks to machine-learning methods. Scientists can now prepare and image a countless number of samples per day by using the CellProfiler software.

Moreover, the software can quantitatively measure individual features such as the number of fluorescent cells in a microscopy field. It can also point out thousands of cell features by the use of deep learning techniques.

Machine learning through deep learning algorithms extracts meaningful information from huge datasets such as genomes or a group of images and builds a model based on the extracted features. The model is then used to perform analysis on other biological datasets.

Machine Learning in Bioinformatics – Final Thoughts

One of the most pressing issues in bioinformatics and biology as a whole is the processing of huge datasets generated by newly developed technologies into meaningful information. However, as we step into the era of artificial intelligence and big data, machine learning in bioinformatics is taking a central role in carrying out this transformation.

This article has highlighted some of the essential concepts of machine learning and its recent applications in biology and bioinformatics. We have seen that ML can be used to devise complex algorithms and models that help in the prediction of trends across different biological disciplines. Ultimately, for these models to succeed, they need quality data in terms of statistical power and sample sizes.

If you are interested in machine learning consulting services, feel free to drop us a line! At Addepto, we help diverse companies achieve their goal through AI and ML, pharma, and biotech companies as well!

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Machine Learning in Bioinformatics and Biology

What is machine learning?

Machine learning is a subset of artificial intelligence that enables systems to learn from data and perform tasks without explicit programming. Applications include personalized product recommendations, fraud detection, predictive algorithms, and online data analytics.

What are the main branches of machine learning?

  • Reinforcement Learning: Observes and interprets environments to devise solutions via trial and error.
  • Supervised Learning: Uses labeled data to teach machines how to classify data and predict outcomes.
  • Unsupervised Learning: Utilizes unlabeled data to uncover hidden patterns and insights.

What are the subsets of machine learning?

Deep Learning: Extracts high-level features from raw input, mimicking the human brain.
Neural Networks: Recognizes relationships in data sets by mimicking brain neuron functions.

What is bioinformatics?

Bioinformatics involves applying computational and analytical techniques to capture and interpret biological data, focusing on identifying genes and nucleotides to understand genetic diseases.

How does bioinformatics differ from computational biology?

Bioinformatics: Solves biological issues by analyzing biodata, developing codes, algorithms, and models.
Computational Biology: Finds solutions to problems arising from bioinformatics studies, focusing on stochastic models and genetic analysis.

What are the applications of machine learning in genomics?

  • Genome Sequencing: Enhances DNA sequencing techniques to quickly sequence human genomes.
  • Gene Editing: Uses CRISPR technology to manipulate genetic compositions accurately.
  • Clinical Workflow: Streamlines access to patient data for healthcare personnel.

How is machine learning used in proteomics?

Machine learning methods analyze mass spectral peaks and identify proteins from sequence databases, aiding in disease diagnosis and biological sample analysis.

What role does machine learning play in microarray analysis?

Machine learning simplifies spotting significant interactions in complex experiments, aiding in gene analysis, differentiating gene stages, predicting future gene changes, and disease prevention.

What is text mining in bioinformatics?

Text mining uses natural language processing to examine large volumes of documents, discovering new information to answer research questions. It aids in large-scale protein interaction analysis, searching for novel drug targets, and gene function annotation.

How is machine learning applied in systems biology?

Machine learning models complex interactions in biological systems with sufficient data but insufficient theoretical knowledge, using techniques like probabilistic graphical models and genetic algorithms.

What are the applications of machine learning in healthcare?

  • Drug Discovery and Manufacturing: Utilizes precision medicine and next-generation sequencing in drug development.
  • Medical Imaging and Diagnosis: Employs deep learning for quantitative analysis of 3D medical images.
  • Personalized Medicine: Uses predictive analytics on patient data for personalized treatment options.
  • Stroke Diagnosis: Utilizes pattern recognition for diagnosing and predicting complications in neurological diseases.

What are some machine learning tools used in bioinformatics and biology?

  • DeepVariant: Predicts genetic variations accurately.
  • Atomwise Algorithms: Converts molecules to 3D pixels for studying protein structures.
  • CellProfiler: Quantitatively measures individual features in biological imaging.

What are the benefits of machine learning in bioinformatics?

Machine learning extracts meaningful information from large datasets, builds predictive models, and aids in the transformation of biological data into actionable insights, improving research and clinical outcomes.

This article is an updated version of the publication from Sep 21, 2021.


[1] Genomics Market by Product & Service. URL: Accessed Sep 20, 2021.
[2] What is next generation sequencing?. URL: Accessed Sep 20, 2021.
[3] CRISPR, the disruptor, issue 522, 2015. URL: Accessed Sep 20, 2021.
[4] Artificial intelligence boosts proteome research. URL: Accessed Sep 20, 2021.


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