Top Research Papers on Bioinformatics
Dive into our curated collection of top research papers on Bioinformatics. Stay updated with the latest breakthroughs and methodologies that are pushing the boundaries of computational biology. Discover the innovative techniques and applications used in this fascinating field and enhance your understanding of Bioinformatics.
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Venn diagrams in bioinformatics
228 Citations 2021Anqiang Jia, Ling Xu, Yi Wang
Briefings in Bioinformatics
A comprehensive review comparing Venn diagram generators and application tools to assist users in selecting suitable tools for analyzing and visualizing user-defined datasets is performed.
Ensemble deep learning in bioinformatics
334 Citations 2020Yue Cao, Thomas A. Geddes, Jean Yang + 1 more
Nature Machine Intelligence
Recent key developments in ensemble deep learning are shared and a look is looked at at how their contribution has benefited a wide range of bioinformatics research from basic sequence analysis to systems biology.
The <scp>Bio3D</scp> packages for structural bioinformatics
443 Citations 2020Barry J. Grant, Lars Skjærven, Xin‐Qiu Yao
Protein Science
The Bio3D‐eddm package supports both experimental and theoretical simulation‐generated structures, is integrated with other methods for dissecting sequence‐structure–function relationships, and can be used in a highly automated and reproducible manner.
Nanopore sequencing technology, bioinformatics and applications
1641 Citations 2021Yunhao Wang, Yue Zhao, Audrey Bollas + 2 more
Nature Biotechnology
Nanopore sequencing is being applied in genome assembly, full-length transcript detection and base modification detection and in more specialized areas, such as rapid clinical diagnoses and outbreak surveillance.
The bioinformatics toolbox for circRNA discovery and analysis
397 Citations 2020Liang Chen, Changliang Wang, Huiyan Sun + 4 more
Briefings in Bioinformatics
This review collected about 100 circRNA-associated bioinformatics tools and summarized their current attributes and capabilities and performed network analysis and text mining on circRNA tool publications in order to reveal trends in their ongoing development.
Homomorphic Encryption for Machine Learning in Medicine and Bioinformatics
156 Citations 2020Alexander Wood, Kayvan Najarian, Delaram Kahrobaei
ACM Computing Surveys
The state of fully homomorphic encryption for privacy-preserving techniques in machine learning and bioinformatics is reviewed, along with descriptions of how these methods can be implemented in the encrypted domain.
Explainable AI for Bioinformatics: Methods, Tools and Applications
130 Citations 2023Md. Rezaul Karim, Tanhim Islam, Md Shajalal + 5 more
Briefings in Bioinformatics
Abstract Artificial intelligence (AI) systems utilizing deep neural networks and machine learning (ML) algorithms are widely used for solving critical problems in bioinformatics, biomedical informatics and precision medicine. However, complex ML models that are often perceived as opaque and black-box methods make it difficult to understand the reasoning behind their decisions. This lack of transparency can be a challenge for both end-users and decision-makers, as well as AI developers. In sensitive areas such as healthcare, explainability and accountability are not only desirable properties bu...
The R Language: An Engine for Bioinformatics and Data Science
200 Citations 2022Federico M. Giorgi, Carmine Ceraolo, Daniele Mercatelli
Life
An historical chronicle of how R became what it is today is provided, describing all its current features and capabilities, and the role of R in science in general as a driver for reproducibility is discussed.
Incorporating Machine Learning into Established Bioinformatics Frameworks
119 Citations 2021Noam Auslander, Ayal B. Gussow, Eugene V. Koonin
International Journal of Molecular Sciences
The challenges posed for machine learning, and, in particular, deep learning in biomedicine, are outlined, and unique opportunities for machinelearning techniques integrated with established bioinformatics approaches are suggested to overcome some of these challenges.
Protein Sequence Analysis Using the MPI Bioinformatics Toolkit
859 Citations 2020Felix Gabler, Seung‐Zin Nam, Sebastian Till + 5 more
Current Protocols in Bioinformatics
Detailed information is provided on utilizing the three most widely accessed tools within the MPI Bioinformatics Toolkit: HHpred for the detection of homologs, HHpred in conjunction with MODELLER for structure prediction and homology modeling, and CLANS for the visualization of relationships in large sequence datasets.
Bioinformatics-Led Discovery of Osteoarthritis Biomarkers and Inflammatory Infiltrates
106 Citations 2022Xinyue Hu, Songjia Ni, Kai Zhao + 2 more
Frontiers in Immunology
This study aimed to use bioinformatic methods to identify the key biomarkers and immune infiltration in osteoarthritis using the ConsensusClusterPlus package in R software using a consistent clustering approach.
PyMod 3: a complete suite for structural bioinformatics in PyMOL
144 Citations 2020Giacomo Janson, Alessandro Paiardini
Bioinformatics
The PyMod project is designed to act as a fully integrated interface between the popular molecular graphics viewer PyMOL, and some of the most frequently used tools for structural bioinformatics, e.g. BLAST, HMMER, Clustal, MUSCLE, PSIPRED, DOPE and MODELLER.
Graph representation learning in bioinformatics: trends, methods and applications
200 Citations 2021Hai-Cheng Yi, Zhu‐Hong You, De-Shuang Huang + 1 more
Briefings in Bioinformatics
This work provides a comprehensive survey of emerging graph representation learning algorithms and their applications in bioinformatics from molecular level to genomics, pharmaceutical and healthcare systems level and categorize and analyze both graph embedding methods and graph neural networks.
Augur: a bioinformatics toolkit for phylogenetic analyses of human pathogens
248 Citations 2021John Huddleston, James Hadfield, Thomas R. Sibley + 7 more
The Journal of Open Source Software
Augur is a bioinformatics toolkit designed for phylogenetic analyses of human pathogens that must scale rapidly with the number of samples and be flexible enough to adapt to a variety of questions and organisms.
Applications of transformer-based language models in bioinformatics: a survey
159 Citations 2023Shuang Zhang, Rui Fan, Yuti Liu + 3 more
Bioinformatics Advances
Key developments of transformer-based language models are introduced by describing the detailed structure of transformers and the common challenges, including heterogeneity of training data, computational expense and model interpretability, and opportunities in the context of bioinformatics research are identified.
Metabolic Basis of Creatine in Health and Disease: A Bioinformatics-Assisted Review
153 Citations 2021Diego A. Bonilla, Richard B. Kreider, Jeffrey R. Stout + 4 more
Nutrients
The CK/PCr system acts as a dynamic biosensor based on chemo-mechanical energy transduction, which might explain why dysregulation in Cr metabolism contributes to a wide range of diseases besides the mitigating effect that Cr supplementation may have in some of these disease states.
Want to track pandemic variants faster? Fix the bioinformatics bottleneck
111 Citations 2021Emma B. Hodcroft, Nicola De Maio, Robert Lanfear + 6 more
Nature
Tools, rules and incentives are buckling under the flood of coronavirus genome sequences — to help control the pandemic, researchers need new approaches. Tools, rules and incentives are buckling under the flood of coronavirus genome sequences — to help control the pandemic, researchers need new approaches.
Bioinformatics Methods for Mass Spectrometry-Based Proteomics Data Analysis
262 Citations 2020Chen Chen, Jie Hou, John J. Tanner + 1 more
International Journal of Molecular Sciences
This review introduces bioinformatics software and tools designed for mass spectrometry-based protein identification and quantification, and then reviews the different statistical and machine learning methods that have been developed to perform comprehensive analysis in proteomics studies.
Sangerbox: A comprehensive, interaction‐friendly clinical bioinformatics analysis platform
1150 Citations 2022Weitao Shen, Ziguang Song, Xiao Yan Zhong + 9 more
iMeta
A website platform that provides interactive customizable analysis tools, including various kinds of correlation analyses, pathway enrichment analysis, weighted correlation network analysis, and other common tools and functions, and provides users with rich sources of bioinformatics analysis courses, offering a platform for researchers to share and exchange knowledge.
Bioinformatic prospecting and synthesis of a bifunctional lipopeptide antibiotic that evades resistance
105 Citations 2022Zongqiang Wang, Bimal Koirala, Yözen Hernández + 2 more
Science
Cilagicin’s ability to sequester two distinct, indispensable undecaprenyl phosphates used in cell wall biosynthesis, together with the absence of detectable resistance in laboratory tests and among multidrug-resistant clinical isolates, makes it an appealing candidate for combating antibiotic-resistant pathogens.
Expasy, the Swiss Bioinformatics Resource Portal, as designed by its users
937 Citations 2021Séverine Duvaud, Chiara Gabella, Frédérique Lisacek + 3 more
Nucleic Acids Research
The new version of Expasy provides an up-to-date and accurate description of high-quality resources based on a standardised ontology, allowing to connect functionally-related resources.
Comparing bioinformatic pipelines for microbial 16S rRNA amplicon sequencing
443 Citations 2020Andrei Prodan, Valentina Tremaroli, Harald Brolin + 3 more
PLoS ONE
Microbial amplicon sequencing studies are an important tool in biological and biomedical research. Widespread 16S rRNA gene microbial surveys have shed light on the structure of many ecosystems inhabited by bacteria, including the human body. However, specialized software and algorithms are needed to convert raw sequencing data into biologically meaningful information (i.e. tables of bacterial counts). While different bioinformatic pipelines are available in a rapidly changing and improving field, users are often unaware of limitations and biases associated with individual pipelines and there ...
Reproducible, scalable, and shareable analysis pipelines with bioinformatics workflow managers
202 Citations 2021Laura Wratten, Andreas Wilm, Jonathan Göke
Nature Methods
This Perspective highlights workflow managers, which are useful for developing and managing complex bioinformatics pipelines, and outlines community-curated pipeline initiatives that enable novice and experienced users to perform complex, best-practice analyses without having to manually assemble workflows.
VEuPathDB: the eukaryotic pathogen, vector and host bioinformatics resource center
490 Citations 2021B Kirtley Amos, Cristina Aurrecoechea, Matthieu Barba + 63 more
Nucleic Acids Research
Abstract The Eukaryotic Pathogen, Vector and Host Informatics Resource (VEuPathDB, https://veupathdb.org) represents the 2019 merger of VectorBase with the EuPathDB projects. As a Bioinformatics Resource Center funded by the National Institutes of Health, with additional support from the Welllcome Trust, VEuPathDB supports &gt;500 organisms comprising invertebrate vectors, eukaryotic pathogens (protists and fungi) and relevant free-living or non-pathogenic species or hosts. Designed to empower researchers with access to Omics data and bioinformatic analyses, VEuPathDB projects integrate &a...
Epitope-based vaccine design: a comprehensive overview of bioinformatics approaches
271 Citations 2020Sepideh Parvizpour, Mohammad M. Pourseif, Jafar Razmara + 2 more
Drug Discovery Today
In this review, insights are provided into in silico epitope-based vaccine design and vaccinology procedures used for the development of the next-generation vaccines with high effectiveness.
Bioinformatics and Computational Tools for Next-Generation Sequencing Analysis in Clinical Genetics
252 Citations 2020Rute Pereira, Jorge Oliveira, Mário Sousa
Journal of Clinical Medicine
This review aims to fill the gap that exists among (bio)informaticians, molecular geneticists and clinicians, by presenting a general overview of the NGS technology and workflow, focusing on the two main platforms Illumina and Ion Torrent.
An Introduction to Next Generation Sequencing Bioinformatic Analysis in Gut Microbiome Studies
153 Citations 2021Bei Gao, Liang Chi, Yixin Zhu + 7 more
Biomolecules
This review summarizes commonly used computational tools for gut microbiome data analysis, which extended the understanding of the gut microbiome in health and diseases.
Bioinformatics approaches to discovering food-derived bioactive peptides: Reviews and perspectives
117 Citations 2023Zhenjiao Du, Jeffrey Comer, Yonghui Li
TrAC Trends in Analytical Chemistry
Food-derived bioactive peptides (FBPs) are gaining interest due to their great potential in agricultural byproduct valorization and high-activity peptide screening. The introduction of bioinformatics into FBP studies further enhances the prospects of this field. This review provides a comprehensive overview and critical insight into the latest advances in bioinformatics-driven FBPs studies. The roles of databases, proteolysis simulation, bioactivity potency evaluation, quantitative structure-activity relationships (QSAR) models, molecular docking, molecular dynamics simulation, and free energy...
Majorbio Cloud: A one‐stop, comprehensive bioinformatic platform for multiomics analyses
783 Citations 2022Yi Ren, Yu Guo, Caiping Shi + 38 more
iMeta
The platform consists of three modules, which are pre‐configured bioinformatic pipelines, cloud toolsets, and online omics' courses, which provide a state‐of‐art platform to researchers in interactive communication and knowledge sharing.
VEuPathDB: the eukaryotic pathogen, vector and host bioinformatics resource center in 2023
200 Citations 2023Jorge Álvarez-Jarreta, B Kirtley Amos, Cristina Aurrecoechea + 58 more
Nucleic Acids Research
To address the growing body of omics data and advances in laboratory techniques, VEuPathDB has added several new data types, searches and features, improved the Galaxy workspace environment, redesigned the MapVEu interface and updated the infrastructure to accommodate these changes.
Identification of Core Genes and Pathways in Melanoma Metastasis via Bioinformatics Analysis
105 Citations 2022Renjian Xie, Bifei Li, Lee Jia + 1 more
International Journal of Molecular Sciences
In vitro experiments showed that KRT5 played the inhibitory effects on melanoma metastasis, and this bioinformatics study provided a deeper understanding of the molecular mechanisms of melan cancer metastasis.
Colon cancer diagnosis and staging classification based on machine learning and bioinformatics analysis
174 Citations 2022Ying Su, Xuecong Tian, Rui Gao + 8 more
Computers in Biology and Medicine
Advanced metastasis of colon cancer makes it more difficult to treat colon cancer. Finding the markers of colon cancer (Colon Cancer) can diagnose the stage of cancer in time and improve the prognosis with timely treatment. This paper uses gene expression profiling data from The Cancer Genome Atlas (TCGA) for the diagnosis of colon cancer and its staging. In this study, we first selected the gene modules with the greatest correlation with cancer by Weighted Gene Co-expression Network Analysis (WGCNA), extracted the characteristic genes for differential expression results using the least absolu...
A guide to human microbiome research: study design, sample collection, and bioinformatics analysis
126 Citations 2020Xubo Qian, Tong Chen, Yiping Xu + 4 more
Chinese Medical Journal
The meticulous study design is a key step to obtaining meaningful results, and appropriate statistical methods are important for accurate interpretation of microbiome data, and the step-by-step pipelines provide researchers with insights into newly developed bioinformatics analysis methods.
VectorBase.org updates: bioinformatic resources for invertebrate vectors of human pathogens and related organisms
112 Citations 2021Gloria I. Giraldo-Calderón, Omar S. Harb, Sarah Kelly + 3 more
Current Opinion in Insect Science
VectorBase (VectorBase.org) is part of the VEuPathDB Bioinformatics Resource Center, providing free online access to multi-omics and population biology data, focusing on arthropod vectors and invertebrates of importance to human health.
Integrated bioinformatics analysis for the screening of hub genes and therapeutic drugs in ovarian cancer
107 Citations 2020Dan Yang, Yang He, Bo Wu + 4 more
Journal of Ovarian Research
Hub genes and candidate drugs involved in OC may improve individualized diagnosis and therapy for OC in future and may produce new insights regarding OC pathogenesis and treatment.
Demystifying emerging bulk RNA-Seq applications: the application and utility of bioinformatic methodology
107 Citations 2021Amarinder Singh Thind, Isha Monga, Prasoon Kumar Thakur + 5 more
Briefings in Bioinformatics
The focus of this review is to comprehend the emerging Bulk RNA-Seq-based analyses, emphasizing less familiar and underused applications and highlighting the power of bulk RNA- Seq in providing biological insights.
A Machine Learning Bioinformatics Method to Predict Biological Activity from Biosynthetic Gene Clusters
104 Citations 2021Allison S. Walker, Jon Clardy
Journal of Chemical Information and Modeling
This work trained commonly used machine learning classifiers to predict antibacterial or antifungal activity based on features of known natural product biosynthetic gene clusters and identified classifiers that can attain accuracies as high as 80% and that have enabled the identification of biosynthesis enzymes and their corresponding molecular features that are associated with antibiotic activity.
Identifying Immune Cell Infiltration and Effective Diagnostic Biomarkers in Rheumatoid Arthritis by Bioinformatics Analysis
115 Citations 2021Sheng Zhou, Hongcheng Lu, Min Xiong
Frontiers in Immunology
CCL5, CXCR4, GZMA, and CD8A can be used as diagnostic biomarker for RA, and the correlation between immune cells and biomarkers showed that CCL5 was positively correlated with M1 macrophages, CxCR4 was positive correlated with memory activated CD4+ T cells and follicular helper T (Tfh) cells, and GZma was positively correlation with Tfh cells.
Identification of key biomarkers and immune infiltration in systemic lupus erythematosus by integrated bioinformatics analysis
235 Citations 2021Xingwang Zhao, Longlong Zhang, Juan Wang + 4 more
Journal of Translational Medicine
It is found that an increased infiltration of moncytes, while NK cells resting infiltrated less may be related to the occurrence of SLE, and IFI27 may be a new candidate molecular marker of the occurrence and progression of Sle.
Bioinformatics and machine learning approach identifies potential drug targets and pathways in COVID-19
105 Citations 2021Md. Rabiul Auwul, Md Rezanur Rahman, Esra Göv + 2 more
Briefings in Bioinformatics
Drug–gene interactions analysis suggests amsacrine, BRD-K68548958, naproxol, palbociclib and teniposide as the top-scored repurposed drugs.