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  1. Natural language processing (NLP) enables the extraction of information embedded within unstructured texts, such as clinical case reports and trial eligibility criteria. By identifying relevant medical concept...

    Authors: Leonardo Campillos-Llanos, Ana Valverde-Mateos and Adrián Capllonch-Carrión
    Citation: BMC Bioinformatics 2025 26:7
  2. The process of new drug development is complex, whereas drug-disease association (DDA) prediction aims to identify new therapeutic uses for existing medications. However, existing graph contrastive learning ap...

    Authors: Xianfang Tang, Yawen Hou, Yajie Meng, Zhaojing Wang, Changcheng Lu, Juan Lv, Xinrong Hu, Junlin Xu and Jialiang Yang
    Citation: BMC Bioinformatics 2025 26:5
  3. In cell line perturbation experiments, a collection of cells is perturbed with external agents and responses such as protein expression measured. Due to cost constraints, only a small fraction of all possible ...

    Authors: James P. Long, Yumeng Yang, Shohei Shimizu, Thong Pham and Kim-Anh Do
    Citation: BMC Bioinformatics 2025 26:4
  4. Accurate taxonomic classification in genome databases is essential for reliable biological research and effective data sharing. Mislabeling or inaccuracies in genome annotations can lead to incorrect scientifi...

    Authors: Mohamed Elmanzalawi, Takatomo Fujisawa, Hiroshi Mori, Yasukazu Nakamura and Yasuhiro Tanizawa
    Citation: BMC Bioinformatics 2025 26:3
  5. Cancer classification has consistently been a challenging problem, with the main difficulties being high-dimensional data and the collection of patient samples. Concretely, obtaining patient samples is a costl...

    Authors: Qiaosheng Zhang, Yalong Wei, Jie Hou, Hongpeng Li and Zhaoman Zhong
    Citation: BMC Bioinformatics 2024 25:392
  6. As a heterogeneous disease, prostate cancer (PCa) exhibits diverse clinical and biological features, which pose significant challenges for early diagnosis and treatment. Metabolomics offers promising new appro...

    Authors: Liqiang Sun, Xiaojing Fan, Yunwei Zhao, Qi Zhang and Mingyang Jiang
    Citation: BMC Bioinformatics 2024 25:391
  7. Accurate prediction of copy number variations (CNVs) from _targeted capture next-generation sequencing (NGS) data relies on effective normalization of read coverage profiles. The normalization process is partic...

    Authors: Zoltán Maróti, Peter Juma Ochieng, József Dombi, Miklós Krész and Tibor Kalmár
    Citation: BMC Bioinformatics 2024 25:389
  8. Time-series scRNA-seq data have opened a door to elucidate cell differentiation, and in this context, the optimal transport theory has been attracting much attention. However, there remain critical issues in i...

    Authors: Toshiaki Yachimura, Hanbo Wang, Yusuke Imoto, Momoko Yoshida, Sohei Tasaki, Yoji Kojima, Yukihiro Yabuta, Mitinori Saitou and Yasuaki Hiraoka
    Citation: BMC Bioinformatics 2024 25:388
  9. The bacterium Vibrio cholerae causes diarrheal illness and can acquire genetic material leading to multiple drug resistance (MDR). Rapid detection of resistance-conferring mobile genetic elements helps avoid the ...

    Authors: Daniel Antonio Negrón, Shipra Trivedi, Nicholas Tolli, David Ashford, Gabrielle Melton, Stephanie Guertin, Katharine Jennings, Bryan D. Necciai, Shanmuga Sozhamannan and Bradley W. Abramson
    Citation: BMC Bioinformatics 2024 25:384
  10. Metabolomics is a high-throughput technology that measures small molecule metabolites in cells, tissues or biofluids. Analysis of metabolomics data is a multi-step process that involves data processing, qualit...

    Authors: Christopher Patsalis, Gayatri Iyer, Marci Brandenburg, Alla Karnovsky and George Michailidis
    Citation: BMC Bioinformatics 2024 25:383
  11. Using information measures to infer biological regulatory networks can capture nonlinear relationships between variables. However, it is computationally challenging, and there is a lack of convenient tools.

    Authors: Chu Pan and Yanlin Chen
    Citation: BMC Bioinformatics 2024 25:382
  12. Recent developments in spatially resolved transcriptomics (SRT) enable the characterization of spatial structures for different tissues. Many decomposition methods have been proposed to depict the cellular dis...

    Authors: Zhongning Jiang, Wei Huang, Raymond H. W. Lam and Wei Zhang
    Citation: BMC Bioinformatics 2024 25:379
  13. Vaccines development in this millennium started by the milestone work on Neisseria meningitidis B, reporting the invention of Reverse Vaccinology (RV), which allows to identify vaccine candidates (VCs) by screeni...

    Authors: Andrea Conte, Nicola Gulmini, Francesco Costa, Matteo Cartura, Felix Bröhl, Francesco Patanè and Francesco Filippini
    Citation: BMC Bioinformatics 2024 25:378
  14. Methods to call, analyze and visualize copy number variations (CNVs) from massive parallel sequencing data have been widely adopted in clinical practice and genetic research. To enable a streamlined analysis o...

    Authors: Jeremias Krause, Carlos Classen, Daniela Dey, Eva Lausberg, Luise Kessler, Thomas Eggermann, Ingo Kurth, Matthias Begemann and Florian Kraft
    Citation: BMC Bioinformatics 2024 25:376
  15. Phenotypic data comparison is essential for disease association studies, patient stratification, and genotype–phenotype correlation analysis. To support these efforts, the Global Alliance for Genomics and Heal...

    Authors: Ivo C. Leist, María Rivas-Torrubia, Marta E. Alarcón-Riquelme, Guillermo Barturen, PRECISESADS Clinical Consortium, Ivo G. Gut and Manuel Rueda
    Citation: BMC Bioinformatics 2024 25:373
  16. The precise prediction of transcription factor binding sites (TFBSs) is pivotal for unraveling the gene regulatory networks underlying biological processes. While numerous tools have emerged for in silico TFBS...

    Authors: Dinithi V. Wanniarachchi, Sameera Viswakula and Anushka M. Wickramasuriya
    Citation: BMC Bioinformatics 2024 25:371
  17. Insertions and deletions (indels) play a significant role in genome evolution across species. Realistic modelling of indel evolution is challenging and is still an open research question. Several attempts have...

    Authors: Gholamhossein Jowkar, Jūlija Pečerska, Manuel Gil and Maria Anisimova
    Citation: BMC Bioinformatics 2024 25:370
  18. Jointly analyzing multiple phenotype/traits may increase power in genetic association studies by aggregating weak genetic effects. The chance that at least one phenotype is missing increases exponentially as t...

    Authors: Jianjun Zhang, Jane Zizhen Zhao, Samantha Gonzales, Xuexia Wang and Qiuying Sha
    Citation: BMC Bioinformatics 2024 25:369
  19. Antimicrobial peptides (AMPs) are a promising class of antimicrobial drugs due to their broad-spectrum activity against microorganisms. However, their clinical application is limited by their potential to caus...

    Authors: Ibrahim Abdelbaky, Mohamed Elhakeem, Hilal Tayara, Elsayed Badr and Mustafa Abdul Salam
    Citation: BMC Bioinformatics 2024 25:368
  20. Genomic sequence similarity comparison is a crucial research area in bioinformatics. Multiple Sequence Alignment (MSA) is the basic technique used to identify regions of similarity between sequences, although ...

    Authors: Nasma Boumajdi, Houda Bendani, Lahcen Belyamani and Azeddine Ibrahimi
    Citation: BMC Bioinformatics 2024 25:367
  21. The preservation of soil health is a critical challenge in the 21st century due to its significant impact on agriculture, human health, and biodiversity. We provide one of the first comprehensive investigation...

    Authors: Rosa Aghdam, Xudong Tang, Shan Shan, Richard Lankau and Claudia Solís-Lemus
    Citation: BMC Bioinformatics 2024 25:366
  22. Plasmids play a major role in the transfer of antimicrobial resistance (AMR) genes among bacteria via horizontal gene transfer. The identification of plasmids in short-read assemblies is a challenging problem ...

    Authors: Aniket Mane, Haley Sanderson, Aaron P. White, Rahat Zaheer, Robert Beiko and Cédric Chauve
    Citation: BMC Bioinformatics 2024 25:365
  23. The integration of multi-omics data through deep learning has greatly improved cancer subtype classification, particularly in feature learning and multi-omics data integration. However, key challenges remain i...

    Authors: Lei Cheng, Qian Huang, Zhengqun Zhu, Yanan Li, Shuguang Ge, Longzhen Zhang and Ping Gong
    Citation: BMC Bioinformatics 2024 25:364
  24. Over the last decade the drop in short-read sequencing costs has allowed experimental techniques utilizing sequencing to address specific biological questions to proliferate, oftentimes outpacing standardized ...

    Authors: Quinlan Furumo and Michelle M. Meyer
    Citation: BMC Bioinformatics 2024 25:363
  25. Advances in transcriptional profiling methods have enabled the discovery of molecular subtypes within and across traditional tissue-based cancer classifications. Such molecular subgroups hold potential for imp...

    Authors: Aideen McCabe, Gerard P. Quinn, Suneil Jain, Micheál Ó Dálaigh, Kellie Dean, Ross G. Murphy and Simon S. McDade
    Citation: BMC Bioinformatics 2024 25:362
  26. Identification of drug–_target interactions is an indispensable part of drug discovery. While conventional shallow machine learning and recent deep learning methods based on chemogenomic properties of drugs and...

    Authors: Yuanyuan Zhang, Yingdong Wang, Chaoyong Wu, Lingmin Zhan, Aoyi Wang, Caiping Cheng, Jinzhong Zhao, Wuxia Zhang, Jianxin Chen and Peng Li
    Citation: BMC Bioinformatics 2024 25:361
  27. RNA 5-methyluridine (m5U) modifications play a crucial role in biological processes, making their accurate identification a key focus in computational biology. This paper introduces Deep-m5U, a robust predicto...

    Authors: Sumaiya Noor, Afshan Naseem, Hamid Hussain Awan, Wasiq Aslam, Salman Khan, Salman A. AlQahtani and Nijad Ahmad
    Citation: BMC Bioinformatics 2024 25:360
  28. The rewiring of molecular interactions in various conditions leads to distinct phenotypic outcomes. Differential network analysis (DINA) is dedicated to exploring these rewirings within gene and protein netwo...

    Authors: Pietro Hiram Guzzi, Arkaprava Roy, Marianna Milano and Pierangelo Veltri
    Citation: BMC Bioinformatics 2024 25:359
  29. Graphical representations are useful to model complex data in general and biological interactions in particular. Our main motivation is the comparison of metabolic networks in the wider context of developing n...

    Authors: Ariane Marandon, Tabea Rebafka, Nataliya Sokolovska and Hédi Soula
    Citation: BMC Bioinformatics 2024 25:358
  30. Rare copy number variants (CNVs) significantly influence the human genome and may contribute to disease susceptibility. High-throughput SNP genotyping platforms provide data that can be used for CNV detection,...

    Authors: Haydee Artaza, Ksenia Lavrichenko, Anette S. B. Wolff, Ellen C. Røyrvik, Marc Vaudel and Stefan Johansson
    Citation: BMC Bioinformatics 2024 25:357
  31. In unforeseen situations, such as nuclear power plant’s or civilian radiation accidents, there is a need for effective and computationally inexpensive methods to determine the expression level of a selected ge...

    Authors: Tomasz Strzoda, Lourdes Cruz-Garcia, Mustafa Najim, Christophe Badie and Joanna Polanska
    Citation: BMC Bioinformatics 2024 25:354
  32. The explosive growth of next-generation sequencing data has resulted in ultra-large-scale datasets and significant computational challenges. As the cost of next-generation sequencing (NGS) has decreased, the a...

    Authors: Gunhwan Ko, Pan-Gyu Kim, Byung-Ha Yoon, JaeHee Kim, Wangho Song, IkSu Byeon, JongCheol Yoon, Byungwook Lee and Young-Kuk Kim
    Citation: BMC Bioinformatics 2024 25:353
  33. Viral proteins that evade the host’s innate immune response play a crucial role in pathogenesis, significantly impacting viral infections and potential therapeutic strategies. Identifying these proteins throug...

    Authors: Jorge F. Beltrán, Lisandra Herrera Belén, Alejandro J. Yáñez and Luis Jimenez
    Citation: BMC Bioinformatics 2024 25:351

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