Bioinformatics最新文献_第10页

Correction to: Online bias-aware disease module mining with ROBUST-Web. 更正:使用ROBUST-Web进行在线偏见感知疾病模块挖掘。

IF 5.8 3区生物学

Bioinformatics Pub Date : 2023-09-02 DOI: 10.1093/bioinformatics/btad566

引用次数: 0

scAce: an adaptive embedding and clustering method for single-cell gene expression data. scAce：单细胞基因表达数据的自适应嵌入和聚类方法。

IF 5.8 3区生物学

Bioinformatics Pub Date : 2023-09-02 DOI: 10.1093/bioinformatics/btad546

Xinwei He, Kun Qian, Ziqian Wang, Shirou Zeng, Hongwei Li, Wei Vivian Li

{"title":"scAce: an adaptive embedding and clustering method for single-cell gene expression data.","authors":"Xinwei He, Kun Qian, Ziqian Wang, Shirou Zeng, Hongwei Li, Wei Vivian Li","doi":"10.1093/bioinformatics/btad546","DOIUrl":"10.1093/bioinformatics/btad546","url":null,"abstract":"Motivation: Since the development of single-cell RNA sequencing (scRNA-seq) technologies, clustering analysis of single-cell gene expression data has been an essential tool for distinguishing cell types and identifying novel cell types. Even though many methods have been available for scRNA-seq clustering analysis, the majority of them are constrained by the requirement on predetermined cluster numbers or the dependence on selected initial cluster assignment.Results: In this article, we propose an adaptive embedding and clustering method named scAce, which constructs a variational autoencoder to simultaneously learn cell embeddings and cluster assignments. In the scAce method, we develop an adaptive cluster merging approach which achieves improved clustering results without the need to estimate the number of clusters in advance. In addition, scAce provides an option to perform clustering enhancement, which can update and enhance cluster assignments based on previous clustering results from other methods. Based on computational analysis of both simulated and real datasets, we demonstrate that scAce outperforms state-of-the-art clustering methods for scRNA-seq data, and achieves better clustering accuracy and robustness.Availability and implementation: The scAce package is implemented in python 3.8 and is freely available from https://github.com/sldyns/scAce.","PeriodicalId":8903,"journal":{"name":"Bioinformatics","volume":null,"pages":null},"PeriodicalIF":5.8,"publicationDate":"2023-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10500084/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10649377","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Automated machine learning for genome wide association studies. 用于全基因组关联研究的自动化机器学习。

IF 5.8 3区生物学

Bioinformatics Pub Date : 2023-09-02 DOI: 10.1093/bioinformatics/btad545

Kleanthi Lakiotaki, Zaharias Papadovasilakis, Vincenzo Lagani, Stefanos Fafalios, Paulos Charonyktakis, Michail Tsagris, Ioannis Tsamardinos

{"title":"Automated machine learning for genome wide association studies.","authors":"Kleanthi Lakiotaki, Zaharias Papadovasilakis, Vincenzo Lagani, Stefanos Fafalios, Paulos Charonyktakis, Michail Tsagris, Ioannis Tsamardinos","doi":"10.1093/bioinformatics/btad545","DOIUrl":"10.1093/bioinformatics/btad545","url":null,"abstract":"Motivation: Genome-wide association studies (GWAS) present several computational and statistical challenges for their data analysis, including knowledge discovery, interpretability, and translation to clinical practice.Results: We develop, apply, and comparatively evaluate an automated machine learning (AutoML) approach, customized for genomic data that delivers reliable predictive and diagnostic models, the set of genetic variants that are important for predictions (called a biosignature), and an estimate of the out-of-sample predictive power. This AutoML approach discovers variants with higher predictive performance compared to standard GWAS methods, computes an individual risk prediction score, generalizes to new, unseen data, is shown to better differentiate causal variants from other highly correlated variants, and enhances knowledge discovery and interpretability by reporting multiple equivalent biosignatures.Availability and implementation: Code for this study is available at: https://github.com/mensxmachina/autoML-GWAS. JADBio offers a free version at: https://jadbio.com/sign-up/. SNP data can be downloaded from the EGA repository (https://ega-archive.org/). PRS data are found at: https://www.aicrowd.com/challenges/opensnp-height-prediction. Simulation data to study population structure can be found at: https://easygwas.ethz.ch/data/public/dataset/view/1/.","PeriodicalId":8903,"journal":{"name":"Bioinformatics","volume":null,"pages":null},"PeriodicalIF":5.8,"publicationDate":"2023-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10562960/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10161763","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Accessibility of covariance information creates vulnerability in Federated Learning frameworks. 协方差信息的可访问性在联合学习框架中造成漏洞。

IF 5.8 3区生物学

Bioinformatics Pub Date : 2023-09-02 DOI: 10.1093/bioinformatics/btad531

Manuel Huth, Jonas Arruda, Roy Gusinow, Lorenzo Contento, Evelina Tacconelli, Jan Hasenauer

{"title":"Accessibility of covariance information creates vulnerability in Federated Learning frameworks.","authors":"Manuel Huth, Jonas Arruda, Roy Gusinow, Lorenzo Contento, Evelina Tacconelli, Jan Hasenauer","doi":"10.1093/bioinformatics/btad531","DOIUrl":"10.1093/bioinformatics/btad531","url":null,"abstract":"Motivation: Federated Learning (FL) is gaining traction in various fields as it enables integrative data analysis without sharing sensitive data, such as in healthcare. However, the risk of data leakage caused by malicious attacks must be considered. In this study, we introduce a novel attack algorithm that relies on being able to compute sample means, sample covariances, and construct known linearly independent vectors on the data owner side.Results: We show that these basic functionalities, which are available in several established FL frameworks, are sufficient to reconstruct privacy-protected data. Additionally, the attack algorithm is robust to defense strategies that involve adding random noise. We demonstrate the limitations of existing frameworks and propose potential defense strategies analyzing the implications of using differential privacy. The novel insights presented in this study will aid in the improvement of FL frameworks.Availability and implementation: The code examples are provided at GitHub (https://github.com/manuhuth/Data-Leakage-From-Covariances.git). The CNSIM1 dataset, which we used in the manuscript, is available within the DSData R package (https://github.com/datashield/DSData/tree/main/data).","PeriodicalId":8903,"journal":{"name":"Bioinformatics","volume":null,"pages":null},"PeriodicalIF":5.8,"publicationDate":"2023-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10516515/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10176920","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

GraphCpG: imputation of single-cell methylomes based on locus-aware neighboring subgraphs. GraphCpG：基于位点感知相邻子图的单细胞甲基组插补。

IF 5.8 3区生物学

Bioinformatics Pub Date : 2023-09-02 DOI: 10.1093/bioinformatics/btad533

Yuzhong Deng, Jianxiong Tang, Jiyang Zhang, Jianxiao Zou, Que Zhu, Shicai Fan

{"title":"GraphCpG: imputation of single-cell methylomes based on locus-aware neighboring subgraphs.","authors":"Yuzhong Deng, Jianxiong Tang, Jiyang Zhang, Jianxiao Zou, Que Zhu, Shicai Fan","doi":"10.1093/bioinformatics/btad533","DOIUrl":"10.1093/bioinformatics/btad533","url":null,"abstract":"Motivation: Single-cell DNA methylation sequencing can assay DNA methylation at single-cell resolution. However, incomplete coverage compromises related downstream analyses, outlining the importance of imputation techniques. With a rising number of cell samples in recent large datasets, scalable and efficient imputation models are critical to addressing the sparsity for genome-wide analyses.Results: We proposed a novel graph-based deep learning approach to impute methylation matrices based on locus-aware neighboring subgraphs with locus-aware encoding orienting on one cell type. Merely using the CpGs methylation matrix, the obtained GraphCpG outperforms previous methods on datasets containing more than hundreds of cells and achieves competitive performance on smaller datasets, with subgraphs of predicted sites visualized by retrievable bipartite graphs. Besides better imputation performance with increasing cell number, it significantly reduces computation time and demonstrates improvement in downstream analysis.Availability and implementation: The source code is freely available at https://github.com/yuzhong-deng/graphcpg.git.","PeriodicalId":8903,"journal":{"name":"Bioinformatics","volume":null,"pages":null},"PeriodicalIF":5.8,"publicationDate":"2023-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10516632/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10121589","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Correction to: Optimal adjustment sets for causal query estimation in partially observed biomolecular networks. 修正:部分观察到的生物分子网络中因果查询估计的最优调整集。

IF 5.8 3区生物学

Bioinformatics Pub Date : 2023-09-02 DOI: 10.1093/bioinformatics/btad559

引用次数: 0

Phylogenetic inference using generative adversarial networks. 利用生成对抗网络进行系统发育推断。

IF 4.4 3区生物学

Bioinformatics Pub Date : 2023-09-02 DOI: 10.1093/bioinformatics/btad543

Megan L Smith, Matthew W Hahn

{"title":"Phylogenetic inference using generative adversarial networks.","authors":"Megan L Smith, Matthew W Hahn","doi":"10.1093/bioinformatics/btad543","DOIUrl":"10.1093/bioinformatics/btad543","url":null,"abstract":"Motivation: The application of machine learning approaches in phylogenetics has been impeded by the vast model space associated with inference. Supervised machine learning approaches require data from across this space to train models. Because of this, previous approaches have typically been limited to inferring relationships among unrooted quartets of taxa, where there are only three possible topologies. Here, we explore the potential of generative adversarial networks (GANs) to address this limitation. GANs consist of a generator and a discriminator: at each step, the generator aims to create data that is similar to real data, while the discriminator attempts to distinguish generated and real data. By using an evolutionary model as the generator, we use GANs to make evolutionary inferences. Since a new model can be considered at each iteration, heuristic searches of complex model spaces are possible. Thus, GANs offer a potential solution to the challenges of applying machine learning in phylogenetics.Results: We developed phyloGAN, a GAN that infers phylogenetic relationships among species. phyloGAN takes as input a concatenated alignment, or a set of gene alignments, and infers a phylogenetic tree either considering or ignoring gene tree heterogeneity. We explored the performance of phyloGAN for up to 15 taxa in the concatenation case and 6 taxa when considering gene tree heterogeneity. Error rates are relatively low in these simple cases. However, run times are slow and performance metrics suggest issues during training. Future work should explore novel architectures that may result in more stable and efficient GANs for phylogenetics.Availability and implementation: phyloGAN is available on github: https://github.com/meganlsmith/phyloGAN/.","PeriodicalId":8903,"journal":{"name":"Bioinformatics","volume":null,"pages":null},"PeriodicalIF":4.4,"publicationDate":"2023-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10500083/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10631514","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

DrForna: visualization of cotranscriptional folding. DrForna：同转录折叠的可视化。

IF 4.4 3区生物学

Bioinformatics Pub Date : 2023-09-02 DOI: 10.1093/bioinformatics/btad555

Anda Ramona Tănasie, Peter Kerpedjiev, Stefan Hammer, Stefan Badelt

{"title":"DrForna: visualization of cotranscriptional folding.","authors":"Anda Ramona Tănasie, Peter Kerpedjiev, Stefan Hammer, Stefan Badelt","doi":"10.1093/bioinformatics/btad555","DOIUrl":"10.1093/bioinformatics/btad555","url":null,"abstract":"Motivation: Understanding RNA folding at the level of secondary structures can give important insights concerning the function of a molecule. We are interested to learn how secondary structures change dynamically during transcription, as well as whether particular secondary structures form already during or only after transcription. While different approaches exist to simulate cotranscriptional folding, the current strategies for visualization are lagging behind. New, more suitable approaches are necessary to help with exploring the generated data from cotranscriptional folding simulations.Results: We present DrForna, an interactive visualization app for viewing the time course of a cotranscriptional RNA folding simulation. Specifically, users can scroll along the time axis and see the population of structures that are present at any particular time point.Availability and implementation: DrForna is a JavaScript project available on Github at https://github.com/ViennaRNA/drforna and deployed at https://viennarna.github.io/drforna.","PeriodicalId":8903,"journal":{"name":"Bioinformatics","volume":null,"pages":null},"PeriodicalIF":4.4,"publicationDate":"2023-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10504468/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10357864","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

DeepMHCI: an anchor position-aware deep interaction model for accurate MHC-I peptide binding affinity prediction. DeepMHCI：一个锚定位置感知的深度相互作用模型，用于准确预测MHC-I肽结合亲和力。

IF 5.8 3区生物学

Bioinformatics Pub Date : 2023-09-02 DOI: 10.1093/bioinformatics/btad551

Wei Qu, Ronghui You, Hiroshi Mamitsuka, Shanfeng Zhu

{"title":"DeepMHCI: an anchor position-aware deep interaction model for accurate MHC-I peptide binding affinity prediction.","authors":"Wei Qu, Ronghui You, Hiroshi Mamitsuka, Shanfeng Zhu","doi":"10.1093/bioinformatics/btad551","DOIUrl":"10.1093/bioinformatics/btad551","url":null,"abstract":"Motivation: Computationally predicting major histocompatibility complex class I (MHC-I) peptide binding affinity is an important problem in immunological bioinformatics, which is also crucial for the identification of neoantigens for personalized therapeutic cancer vaccines. Recent cutting-edge deep learning-based methods for this problem cannot achieve satisfactory performance, especially for non-9-mer peptides. This is because such methods generate the input by simply concatenating the two given sequences: a peptide and (the pseudo sequence of) an MHC class I molecule, which cannot precisely capture the anchor positions of the MHC binding motif for the peptides with variable lengths. We thus developed an anchor position-aware and high-performance deep model, DeepMHCI, with a position-wise gated layer and a residual binding interaction convolution layer. This allows the model to control the information flow in peptides to be aware of anchor positions and model the interactions between peptides and the MHC pseudo (binding) sequence directly with multiple convolutional kernels.Results: The performance of DeepMHCI has been thoroughly validated by extensive experiments on four benchmark datasets under various settings, such as 5-fold cross-validation, validation with the independent testing set, external HPV vaccine identification, and external CD8+ epitope identification. Experimental results with visualization of binding motifs demonstrate that DeepMHCI outperformed all competing methods, especially on non-9-mer peptides binding prediction.Availability and implementation: DeepMHCI is publicly available at https://github.com/ZhuLab-Fudan/DeepMHCI.","PeriodicalId":8903,"journal":{"name":"Bioinformatics","volume":null,"pages":null},"PeriodicalIF":5.8,"publicationDate":"2023-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10516514/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10217795","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

An extensive benchmark study on biomedical text generation and mining with ChatGPT. 利用ChatGPT对生物医学文本生成和挖掘进行了广泛的基准研究。

IF 5.8 3区生物学

Bioinformatics Pub Date : 2023-09-02 DOI: 10.1093/bioinformatics/btad557

Qijie Chen, Haotong Sun, Haoyang Liu, Yinghui Jiang, Ting Ran, Xurui Jin, Xianglu Xiao, Zhimin Lin, Hongming Chen, Zhangmin Niu

{"title":"An extensive benchmark study on biomedical text generation and mining with ChatGPT.","authors":"Qijie Chen, Haotong Sun, Haoyang Liu, Yinghui Jiang, Ting Ran, Xurui Jin, Xianglu Xiao, Zhimin Lin, Hongming Chen, Zhangmin Niu","doi":"10.1093/bioinformatics/btad557","DOIUrl":"10.1093/bioinformatics/btad557","url":null,"abstract":"Motivation: In recent years, the development of natural language process (NLP) technologies and deep learning hardware has led to significant improvement in large language models (LLMs). The ChatGPT, the state-of-the-art LLM built on GPT-3.5 and GPT-4, shows excellent capabilities in general language understanding and reasoning. Researchers also tested the GPTs on a variety of NLP-related tasks and benchmarks and got excellent results. With exciting performance on daily chat, researchers began to explore the capacity of ChatGPT on expertise that requires professional education for human and we are interested in the biomedical domain.Results: To evaluate the performance of ChatGPT on biomedical-related tasks, this article presents a comprehensive benchmark study on the use of ChatGPT for biomedical corpus, including article abstracts, clinical trials description, biomedical questions, and so on. Typical NLP tasks like named entity recognization, relation extraction, sentence similarity, question and answering, and document classification are included. Overall, ChatGPT got a BLURB score of 58.50 while the state-of-the-art model had a score of 84.30. Through a series of experiments, we demonstrated the effectiveness and versatility of ChatGPT in biomedical text understanding, reasoning and generation, and the limitation of ChatGPT build on GPT-3.5.Availability and implementation: All the datasets are available from BLURB benchmark https://microsoft.github.io/BLURB/index.html. The prompts are described in the article.","PeriodicalId":8903,"journal":{"name":"Bioinformatics","volume":null,"pages":null},"PeriodicalIF":5.8,"publicationDate":"2023-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10562950/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10173923","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 2