Advances and Applications of Machine Learning in Biomedical Genomics

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Bioinformatics".

Deadline for manuscript submissions: 20 June 2024 | Viewed by 658

Special Issue Editor


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Guest Editor
Department of Biological Sciences, Hunter College, City University of New York, New York, NY 10065, USA
Interests: machine learning; artificial intelligence; deep learning; bioinformatics; biomedical genomics; cloud computing; LLMs; generative AI; neural networks; algorithms

Special Issue Information

Dear Colleagues,

This call invites researchers and practitioners in the field of bioinformatics to contribute to a Special Issue entitled “Advances and Applications of Machine Learning in Biomedical Genomics”. As the intersection of machine learning and genomics continues to catalyze transformative breakthroughs, this Special Issue aims to showcase cutting-edge research and applications that harness the power of machine learning techniques for elucidating complex biological mechanisms, predictive modeling of disease outcomes, and the interpretation of large-scale genomics data. We welcome manuscripts covering a spectrum of topics, including, but not limited to, predictive modeling, feature selection, deep learning applications, interpretability, and integrative analyses in the context of biomedical genomics. Submissions may span a range of species and address challenges in functional genomics, precision medicine, and systems biology. This Special Issue provides a platform for researchers to disseminate their novel methodologies, insights, and applications, fostering the exchange of knowledge and driving the continued advancement of the field.

Dr. Konstantinos Krampis
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Genes is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • machine learning
  • artificial intelligence
  • deep learning
  • bioinformatics
  • biomedical genomics
  • cloud computing
  • LLMs
  • generative AI
  • neural networks
  • algorithms

Published Papers (1 paper)

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Research

19 pages, 3099 KiB  
Article
DRANetSplicer: A Splice Site Prediction Model Based on Deep Residual Attention Networks
by Xueyan Liu, Hongyan Zhang, Ying Zeng, Xinghui Zhu, Lei Zhu and Jiahui Fu
Genes 2024, 15(4), 404; https://doi.org/10.3390/genes15040404 - 26 Mar 2024
Viewed by 524
Abstract
The precise identification of splice sites is essential for unraveling the structure and function of genes, constituting a pivotal step in the gene annotation process. In this study, we developed a novel deep learning model, DRANetSplicer, that integrates residual learning and attention mechanisms [...] Read more.
The precise identification of splice sites is essential for unraveling the structure and function of genes, constituting a pivotal step in the gene annotation process. In this study, we developed a novel deep learning model, DRANetSplicer, that integrates residual learning and attention mechanisms for enhanced accuracy in capturing the intricate features of splice sites. We constructed multiple datasets using the most recent versions of genomic data from three different organisms, Oryza sativa japonica, Arabidopsis thaliana and Homo sapiens. This approach allows us to train models with a richer set of high-quality data. DRANetSplicer outperformed benchmark methods on donor and acceptor splice site datasets, achieving an average accuracy of (96.57%, 95.82%) across the three organisms. Comparative analyses with benchmark methods, including SpliceFinder, Splice2Deep, Deep Splicer, EnsembleSplice, and DNABERT, revealed DRANetSplicer’s superior predictive performance, resulting in at least a (4.2%, 11.6%) relative reduction in average error rate. We utilized the DRANetSplicer model trained on O. sativa japonica data to predict splice sites in A. thaliana, achieving accuracies for donor and acceptor sites of (94.89%, 94.25%). These results indicate that DRANetSplicer possesses excellent cross-organism predictive capabilities, with its performance in cross-organism predictions even surpassing that of benchmark methods in non-cross-organism predictions. Cross-organism validation showcased DRANetSplicer’s excellence in predicting splice sites across similar organisms, supporting its applicability in gene annotation for understudied organisms. We employed multiple methods to visualize the decision-making process of the model. The visualization results indicate that DRANetSplicer can learn and interpret well-known biological features, further validating its overall performance. Our study systematically examined and confirmed the predictive ability of DRANetSplicer from various levels and perspectives, indicating that its practical application in gene annotation is justified. Full article
(This article belongs to the Special Issue Advances and Applications of Machine Learning in Biomedical Genomics)
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