Machine Learning Applications in Biology—2nd Edition

A special issue of Biology (ISSN 2079-7737). This special issue belongs to the section "Bioinformatics".

Deadline for manuscript submissions: 30 April 2026 | Viewed by 597

Special Issue Editor


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Guest Editor
Laboratory of Hygiene and Epidemiology, Department of Clinical and Laboratory Research, Faculty of Medicine, University of Thessaly, 41222 Larisa, Greece
Interests: machine learning; long noncoding RNAs; microRNAs; genomics; epigenomics; T cell development
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Special Issue Information

Dear Colleagues,

Gene regulatory networks (GRNs) represent a fundamental mechanism for maintaining the homeostasis of cells, while their inherent plasticity enables the occurrence of dynamic processes such as cell differentiation and adaptation to environmental stimuli, among others. Abrupt changes in GRNs, which can often be attributed to environmental factors or genetic variation, often lead to the development of pathological conditions, including cancer, autoimmune disorders, etc.

GRN is an umbrella term that refers to the complex set of interactions between genomic and epigenomic elements that drive the fine-tuning process of gene expression. GRNs typically consist of elements such as protein-coding and noncoding RNAs (i.e., long noncoding RNAs and microRNAs), transcriptional (i.e., DNA binding proteins) and post-transcriptional (i.e., RNA binding proteins and RNA modification enzymes) regulators, chromatin remodeling factors, DNA methylation enzymes and virtually any type of molecule that is implicated in the mechanisms affecting gene expression.

Machine learning (ML) has been an indispensable tool at the hands of researchers studying any of the aforementioned elements. From building ML-based computational methods for, e.g., predicting transcription factor binding sites, genomic loci that harbor genes, microRNA–gene interactions, RNA binding protein recognition sites and histone-modification-driven genome segmentation to modeling complex relationships between the environment and genetic variation or integrating multipurpose experimental data, ML has been instrumental in shedding light on the darkest corners of biology research.

This Special Issue aims to be the substrate of disseminating state-of-the-art and high-quality research regarding ML applications on any of the aforementioned fields, since we believe that these fields represent the quintessence of biology research and perfectly fit the aim and scope of this journal. In this Special Issue, original research articles and reviews are welcome. Research areas may include (but are not limited to) the following:

  • Genomics;
  • Epigenomics;
  • Interplay between genetic variation and the environment;
  • Gene regulatory networks;
  • Integration of multipurpose next-generation sequencing data (bulk or single cell) in the context of the aforementioned thematic areas;
  • Epidemiology.

I look forward to receiving your contributions.

Dr. Georgios K. Georgakilas
Guest Editor

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Keywords

  • machine learning
  • genomics
  • epigenomics
  • genetic variation and the environment
  • gene regulatory networks
  • integration of multipurpose NGS data

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Published Papers (1 paper)

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Research

11 pages, 892 KiB  
Article
Visualization of Runs of Homozygosity and Classification Using Convolutional Neural Networks
by Siroj Bakoev, Maria Kolosova, Timofey Romanets, Faridun Bakoev, Anatoly Kolosov, Elena Romanets, Anna Korobeinikova, Ilona Bakoeva, Vagif Akhmedli and Lyubov Getmantseva
Biology 2025, 14(4), 426; https://doi.org/10.3390/biology14040426 - 16 Apr 2025
Viewed by 215
Abstract
Runs of homozygosity (ROH) are key elements of the genetic structure of populations, reflecting inbreeding levels, selection history, and potential associations with phenotypic traits. This study proposes a novel approach to ROH analysis through visualization and classification using convolutional neural networks (CNNs). Genetic [...] Read more.
Runs of homozygosity (ROH) are key elements of the genetic structure of populations, reflecting inbreeding levels, selection history, and potential associations with phenotypic traits. This study proposes a novel approach to ROH analysis through visualization and classification using convolutional neural networks (CNNs). Genetic data from Large White (n = 568) and Duroc (n = 600) pigs were used to construct ROH maps, where each homozygous segment was classified by length and visualized as a color-coded image. The analysis was conducted in two stages: (1) classification of animals by breed based on ROH maps and (2) identification of the presence or absence of a phenotypic trait (limb defects). Genotyping was performed using the GeneSeek® GGP SNP80x1_XT chip (Illumina Inc., San Diego, CA, USA), and ROH segments were identified using the software tool PLINK v1.9. To visualize individual maps, we utilized a modified function from the HandyCNV package. The results showed that the CNN model achieved 100% accuracy, sensitivity, and specificity in classifying pig breeds based on ROH maps. When analyzing the binary trait (presence or absence of limb defects), the model demonstrated an accuracy of 78.57%. Despite the moderate accuracy in predicting the phenotypic trait, the high negative predictive value (84.62%) indicates the model’s reliability in identifying healthy animals. This method can be applied not only in animal breeding research but also in medicine to study the association between ROH and hereditary diseases. Future plans include expanding the method to other types of genetic data and developing mechanisms to improve the interpretability of deep learning models. Full article
(This article belongs to the Special Issue Machine Learning Applications in Biology—2nd Edition)
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