Article
Biochemical Research Methods
Malcolm E. Fisher, Erik Segerdell, Nicolas Matentzoglu, Mardi J. Nenni, Joshua D. Fortriede, Stanley Chu, Troy J. Pells, David Osumi-Sutherland, Praneet Chaturvedi, Christina James-Zorn, Nivitha Sundararaj, Vaneet S. Lotay, Virgilio Ponferrada, Dong Zhuo Wang, Eugene Kim, Sergei Agalakov, Bradley Arshinoff, Kamran Karimi, Peter D. Vize, Aaron M. Zorn
Summary: This article introduces the design and application of Xenopus Phenotype Ontology (XPO), which annotates phenotypic data in Xenopus experiments and enables interoperability and ontology management with other species. The XPO combines different ontologies to facilitate the integration and management of phenotypic data.
BMC BIOINFORMATICS
(2022)
Article
Cell Biology
Meng Hao, Hui Zhang, Zixin Hu, Xiaoyan Jiang, Qi Song, Xi Wang, Jiucun Wang, Zuyun Liu, Xiaofeng Wang, Yi Li, Li Jin
Summary: Ageing is characterized by degeneration and loss of function across multiple physiological systems, with phenotypic ageing playing a crucial role. A new composite phenotype analysis (CPA) strategy has been proposed to study phenotypic ageing and reveal hidden relationships among physiological systems, providing novel insights into potential mechanisms underlying human ageing.
Article
Cell Biology
Meng Hao, Hui Zhang, Zixin Hu, Xiaoyan Jiang, Qi Song, Xi Wang, Jiucun Wang, Zuyun Liu, Xiaofeng Wang, Yi Li, Li Jin
Summary: Ageing is associated with degeneration and loss of function in various physiological systems. Phenotypic age has been introduced to assess morbidity and mortality risk, but it may overlook complex relationships among phenotypic biomarkers. Composite phenotype analysis (CPA) can reveal hidden relationships and provide novel insights into potential mechanisms underlying human ageing.
Article
Immunology
Soumyendu Sekhar Bandyopadhyay, Anup Kumar Halder, Sovan Saha, Piyali Chatterjee, Mita Nasipuri, Subhadip Basu
Summary: This study assesses the protein-protein interaction affinity between the host and pathogen of the coronavirus family to aid in understanding the virus's transmission behavior and identifying potential COVID-19 drugs. The study also analyzes FDA-listed COVID drugs for drug repurposing research.
Article
Immunology
Willem Maassen, Geertje Legger, Ovgu Kul Cinar, Paul van Daele, Marco Gattorno, Brigitte Bader-Meunier, Carine Wouters, Tracy Briggs, Lennart Johansson, Joeri van der Velde, Morris Swertz, Ebun Omoyinmi, Esther Hoppenreijs, Alexandre Belot, Despina Eleftheriou, Roberta Caorsi, Florence Aeschlimann, Guilaine Boursier, Paul Brogan, Matthias Haimel, Marielle van Gijn
Summary: This study demonstrates that improved curation of HPO terms can increase the accuracy of diagnosis for systemic autoinflammatory diseases, highlighting the high potential of HPO-based genome diagnostics in this disease category.
FRONTIERS IN IMMUNOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Tim Beck, Thomas Rowlands, Tom Shorter, Anthony J. Brookes
Summary: The GWAS Central resource is a valuable tool for researchers, offering comprehensive GWAS data and user-friendly website tools. It has recently integrated mouse disease model data to support the study of human genetic variation. The updated interfaces and browser provide enhanced functionality for data analysis and visualization.
NUCLEIC ACIDS RESEARCH
(2023)
Article
Cell Biology
Yi Xin (Iris) Tu, Andrew M. Sydor, Etienne Coyaud, Estelle M. N. Laurent, Diana Dyer, Nora Mellouk, Jonathan St-Germain, Robert M. Vernon, Julie D. Forman-Kay, Taoyingnan Li, Rong Hua, Kexin Zhao, Neale D. Ridgway, Peter K. Kim, Brian Raught, John H. Brumell
Summary: This study identified a network of interactions among core human macroautophagy proteins using proximity-dependent biotin identification, highlighting the critical role of OSBPL family members in the macroautophagy process.
Article
Computer Science, Artificial Intelligence
Enrico Manzini, Jon Garrido-Aguirre, Jordi Fonollosa, Alexandre Perera Lluna
Summary: There is a terminological gap between patients and healthcare professionals in the medical domain. A machine learning-based tool has been developed to automatically translate laypeople's terminology to the Human Phenotype Ontology (HPO).
EXPERT SYSTEMS WITH APPLICATIONS
(2022)
Article
Biochemical Research Methods
Yuhao Feng, Lei Qi, Weidong Tian
Summary: In this study, the PhenoBERT deep learning method is developed to automate the recognition of Human Phenotype Ontology (HPO) terms from clinical texts. PhenoBERT uses BERT as its core model and introduces a two-level CNN module to improve computational efficiency. It outperforms traditional dictionary-based and recently developed deep learning-based methods in two benchmark tests.
IEEE-ACM TRANSACTIONS ON COMPUTATIONAL BIOLOGY AND BIOINFORMATICS
(2023)
Article
Multidisciplinary Sciences
Hai-Bo Zhang, Xiao-Bao Ding, Jie Jin, Wen-Ping Guo, Qiao-Lei Yang, Peng-Cheng Chen, Heng Yao, Li Ruan, Yu-Tian Tao, Xin Chen
Summary: The house mouse is a valuable mammalian model for genetic research, offering insights into human diseases. To facilitate molecular mechanism studies in mice, researchers have developed the Mouse Interactome Database and a gene set linkage analysis web tool.
Article
Computer Science, Artificial Intelligence
Maryam Daniali, Peter D. Galer, David Lewis-Smith, Shridhar Parthasarathy, Edward Kim, Dario D. Salvucci, Jeffrey M. Miller, Scott Haag, Ingo Helbig
Summary: The Human Phenotype Ontology (HPO) is a standardized dictionary of clinical phenotypic terms used in precision medicine. This study presents a novel approach to phenotype representation by incorporating phenotypic frequencies based on a large dataset. The proposed embedding technique exceeds current models in identifying phenotypic similarities, showing high agreement with experts' judgment.
ARTIFICIAL INTELLIGENCE IN MEDICINE
(2023)
Article
Infectious Diseases
Francis E. Agamah, Delesa Damena, Michelle Skelton, Anita Ghansah, Gaston K. Mazandu, Emile R. Chimusa
Summary: This study analyzed data to identify essential targets and potential drug candidates for malaria drug therapy. The results revealed hub protein targets and repurposable drugs for malaria treatment, as well as pathways subverted by P. falciparum for survival. Host-pathogen network analysis has implications for drug discovery and experimental studies.
Article
Health Care Sciences & Services
Elena Rojano, Jose Cordoba-Caballero, Fernando M. Jabato, Diana Gallego, Mercedes Serrano, Belen Perez, Alvaro Pares-Aguilar, James R. Perkins, Juan A. G. Ranea, Pedro Seoane-Zonjic
Summary: A thorough analysis of pathological traits is crucial for understanding genetic diseases, performing accurate diagnosis, and prescribing personalized treatments. The Cohort Analyzer tool allows for evaluation of phenotyping quality in patient cohorts, identifying patients with similar phenotypic profiles for further analyses. Improved phenotyping is highlighted as essential in the era of personalized medicine.
JOURNAL OF PERSONALIZED MEDICINE
(2021)
Article
Computer Science, Interdisciplinary Applications
Shankai Yan, Ling Luo, Po-Ting Lai, Daniel Veltri, Andrew J. Oler, Sandhya Xirasagar, Rajarshi Ghosh, Morgan Similuk, Peter N. Robinson, Zhiyong Lu
Summary: This study aims to develop a neural network model to improve the performance of HPO concept recognition tools. Experimental results showed that the model significantly improves the performance compared to existing methods and enhances the accuracy of concept recognition.
JOURNAL OF BIOMEDICAL INFORMATICS
(2022)
Article
Biochemistry & Molecular Biology
Kari Salokas, Xiaonan Liu, Tiina Ohman, Iftekhar Chowdhury, Lisa Gawriyski, Salla Keskitalo, Markku Varjosalo
Summary: Cell-to-cell communication is facilitated by cell surface receptor tyrosine kinases (RTKs), which phosphorylate downstream substrates in response to stimuli. Through three methods, we have mapped the molecular context and substrate profiles of RTKs, identifying new insights into their functions and interactions.
Article
Biochemical Research Methods
Tao Wang, Yongzhuang Liu, Quanwei Yin, Jiaquan Geng, Jin Chen, Xipeng Yin, Yongtian Wang, Xuequn Shang, Chunwei Tian, Yadong Wang, Jiajie Peng
Summary: QTL analyses of multiomic molecular traits play a significant role in inferring the functional effects of genome variants. However, limited study sample size restricts QTL discovery and leads to missing molecular trait-variant associations. This study presents xQTLImp, a computational framework, to efficiently impute missing molecular QTL associations. Experimental results demonstrate high imputation accuracy and novel QTL discovery ability of xQTLImp.
BRIEFINGS IN BIOINFORMATICS
(2022)
Article
Biochemical Research Methods
Wei Wang, Ruijiang Han, Menghan Zhang, Yuxian Wang, Tao Wang, Yongtian Wang, Xuequn Shang, Jiajie Peng
Summary: BrainMI is a novel framework that integrates brain connectome data and molecular-based gene association networks to predict brain disease genes. It constructs a new gene network based on resting-state functional magnetic resonance imaging data and brain region-specific gene expression data, and utilizes a multiple network integration method to learn low-dimensional features of genes. BrainMI achieves higher performance in predicting brain disease genes compared to existing state-of-the-art methods.
BRIEFINGS IN BIOINFORMATICS
(2022)
Article
Computer Science, Information Systems
Jiajie Peng, Jinjin Yang, D. Vijay Anand, Xuequn Shang, Kelin Xia
Summary: The packing of genomic DNA into highly-order hierarchical assemblies greatly affects chromosome flexibility, dynamics, and functions. This study proposes an FRI-based model to quantify chromosome flexibility, which shows better accuracy and computational efficiency compared to the Gaussian network model (GNM). The model is based on the correlation between flexibility index and measurements for chromosome accessibility, and it can easily incorporate interchromosome interactions for improved accuracy.
FRONTIERS OF COMPUTER SCIENCE
(2022)
Article
Biotechnology & Applied Microbiology
Yongtian Wang, Liran Juan, Jiajie Peng, Tao Wang, Tianyi Zang, Yadong Wang
Summary: In this paper, a computational model is proposed for exploring metabolite-disease pairs and has good performance in predicting potential metabolites related to diseases through adequate validation. The results show that DLMPM has a better performance in prioritizing candidate diseases-related metabolites compared with the previous methods and would be helpful for researchers to reveal more information about human diseases.
Correction
Biochemical Research Methods
Tao Wang, Yongzhuang Liu, Quanwei Yin, Jiaquan Geng, Jin Chen, Xipeng Yin, Yongtian Wang, Xuequn Shang, Chunwei Tian, Yadong Wang, Jiajie Peng
BRIEFINGS IN BIOINFORMATICS
(2022)
Editorial Material
Genetics & Heredity
Tao Wang, Miguel E. Renteria, Jiajie Peng
FRONTIERS IN GENETICS
(2022)
Article
Biochemical Research Methods
Cheng Zhong, Kangenbei Liao, Wei Chen, Qianlong Liu, Baolin Peng, Xuanjing Huang, Jiajie Peng, Zhongyu Wei
Summary: This study proposes a hierarchical dialog system model for disease diagnosis, which achieves better accuracy and symptom recall compared to existing systems. The model integrates a two-level policy structure and is capable of handling a large number of diseases and symptoms.
Article
Neurosciences
Shuhui Liu, Yupei Zhang, Jiajie Peng, Tao Wang, Xuequn Shang
Summary: Mathematical learning has been found to significantly impact the plasticity and cognitive functions of the brain. This study identifies non-math students using magnetic resonance imaging scans (MRIs) and employs subspace enhanced contrastive learning and multiple-layer-perceptron models for student classification.
Article
Biochemical Research Methods
Wei Chen, Zhiwei Li, Hongyi Fang, Qianyuan Yao, Cheng Zhong, Jianye Hao, Qi Zhang, Xuanjing Huang, Jiajie Peng, Zhongyu Wei
Summary: In this article, two frameworks are proposed to support automatic medical consultation, which are doctor-patient dialogue understanding and task-oriented interaction. A new large medical dialogue dataset with multi-level fine-grained annotations is created, and five independent tasks are established, including named entity recognition, dialogue act classification, symptom label inference, medical report generation, and diagnosis-oriented dialogue policy. Benchmark results for each task are reported to demonstrate the usability of the dataset and establish a baseline for future studies.
Article
Multidisciplinary Sciences
Yafei Dai, Qiangqiang Zhang, Fei Wu, Jiajie Peng, Xiaobao Xu, Quansheng Du, Qing Pan, Yongjun Chen
Summary: With the development of natural science, interdisciplinary scientific research has become an inevitable trend in pursuit of scientific and technological innovations. Countries and regions like the United States, European Union, and China have established institutions to promote interdisciplinary research, but face challenges such as disciplinary barriers and funding mechanisms. To encourage interdisciplinary research, the National Natural Science Foundation of China established the Department of Interdisciplinary Sciences in 2020, aiming to create a culture of interdisciplinary cooperation and reform funding mechanisms.
CHINESE SCIENCE BULLETIN-CHINESE
(2023)
Article
Biochemical Research Methods
Yongtian Wang, Xinmeng Liu, Yewei Shen, Xuerui Song, Tao Wang, Xuequn Shang, Jiajie Peng
Summary: Circular RNAs (circRNAs) are important in biological processes and closely related to disease diagnosis, treatment, and inference. A computational model based on collaborative deep learning with circRNA multi-view functional annotations is proposed to predict potential circRNA-disease associations efficiently. The model shows better performance in predicting candidate disease-related circRNAs and has high practicality for the diagnosis and treatment of human diseases.
BRIEFINGS IN BIOINFORMATICS
(2023)
Article
Biotechnology & Applied Microbiology
Shuhui Liu, Yupei Zhang, Jiajie Peng, Xuequn Shang
Summary: Analyzing cell-cell communication in the tumor micro-environment helps understand cancer progression and drug tolerance. Existing methods based on known molecular interactions have limitations in predicting cellular communications. In this study, we propose an improved hierarchical variational autoencoder (HiVAE) model that utilizes single-cell RNA-seq data to estimate cell-cell communication scores.
BRIEFINGS IN FUNCTIONAL GENOMICS
(2023)
Article
Biochemical Research Methods
Tao Wang, Jinjin Yang, Yifu Xiao, Jingru Wang, Yuxian Wang, Xi Zeng, Yongtian Wang, Jiajie Peng
Summary: Drug-food interactions (DFIs) refer to the situation where some constituents of food affect the bioaccessibility or efficacy of a drug by involving in drug pharmacodynamic and/or pharmacokinetic processes. This article proposes a novel end-to-end graph embedding-based method named DFinder to identify DFIs. DFinder combines node attribute features and topological structure features to learn the representations of drugs and food constituents. The evaluation results indicate that DFinder outperforms other baseline methods.
Article
Biochemical Research Methods
Wei Chen, Cheng Zhong, Jiajie Peng, Zhongyu Wei
Summary: The automatic diagnostic system queries potential symptoms from patients and predicts possible diseases. Existing methods overlook the importance of symptom inquiry, resulting in low diagnostic accuracy. To address this, a new framework called DxFormer is proposed, which decouples symptom inquiry and disease diagnosis and optimizes them separately. Experimental results confirm that improving symptom recall can enhance diagnostic accuracy.
Proceedings Paper
Computer Science, Artificial Intelligence
Ruijiang Han, Wei Wang, Yuxi Long, Jiajie Peng
Summary: In this work, a post-processing unsupervised deep representation debiasing algorithm called DeepMinMax is proposed, which obtains unbiased representations directly from pre-trained representations without re-training or fine-tuning the entire model. Experimental results on synthetic and real-world datasets show that DeepMinMax outperforms existing state-of-the-art algorithms on downstream tasks.
THIRTY-SIXTH AAAI CONFERENCE ON ARTIFICIAL INTELLIGENCE / THIRTY-FOURTH CONFERENCE ON INNOVATIVE APPLICATIONS OF ARTIFICIAL INTELLIGENCE / TWELVETH SYMPOSIUM ON EDUCATIONAL ADVANCES IN ARTIFICIAL INTELLIGENCE
(2022)