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Bridging Biodiversity and Health: The Global Biodiversity Information Facility's initiative on open data on vectors of human diseases. 连接生物多样性与健康:全球生物多样性信息基金关于人类疾病媒介开放数据的倡议。
Pub Date : 2024-04-11 eCollection Date: 2024-01-01 DOI: 10.46471/gigabyte.117
Paloma Shimabukuro, Quentin Groom, Florence Fouque, Lindsay Campbell, Theeraphap Chareonviriyaphap, Josiane Etang, Sylvie Manguin, Marianne Sinka, Dmitry Schigel, Kate Ingenloff

There is an increased awareness of the importance of data publication, data sharing, and open science to support research, monitoring and control of vector-borne disease (VBD). Here we describe the efforts of the Global Biodiversity Information Facility (GBIF) as well as the World Health Special Programme on Research and Training in Diseases of Poverty (TDR) to promote publication of data related to vectors of diseases. In 2020, a GBIF task group of experts was formed to provide advice and support efforts aimed at enhancing the coverage and accessibility of data on vectors of human diseases within GBIF. Various strategies, such as organizing training courses and publishing data papers, were used to increase this content. This editorial introduces the outcome of a second call for data papers partnered by the TDR, GBIF and GigaScience Press in the journal GigaByte. Biodiversity and infectious diseases are linked in complex ways. These links can involve changes from the microorganism level to that of the habitat, and there are many ways in which these factors interact to affect human health. One way to tackle disease control and possibly elimination, is to provide stakeholders with access to a wide range of data shared under the FAIR principles, so it is possible to support early detection, analyses and evaluation, and to promote policy improvements and/or development.

人们越来越意识到数据发布、数据共享和开放科学对于支持病媒生物疾病(VBD)的研究、监测和控制的重要性。在此,我们将介绍全球生物多样性信息基金(GBIF)以及世界贫困疾病研究和培训特别计划(TDR)为促进病媒相关数据的发布所做的努力。2020 年,成立了 GBIF 专家工作组,以提供建议和支持旨在加强 GBIF 内人类疾病病媒数据的覆盖面和可获取性的工作。为增加这方面的内容,采取了各种策略,如组织培训课程、发表数据论文等。这篇社论介绍了由TDR、GBIF和GigaScience出版社合作在《GigaByte》杂志上第二次征集数据论文的结果。生物多样性与传染性疾病之间有着复杂的联系。这些联系可能涉及从微生物层面到栖息地层面的变化,这些因素通过多种方式相互作用,影响人类健康。解决疾病控制和可能的消除问题的方法之一,是让利益相关者能够访问在 FAIR 原则下共享的各种数据,从而支持早期检测、分析和评估,并促进政策改进和/或发展。
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引用次数: 0
Snakemake workflows for long-read bacterial genome assembly and evaluation. 用于长读数细菌基因组组装和评估的 Snakemake 工作流程。
Pub Date : 2024-04-01 eCollection Date: 2024-01-01 DOI: 10.46471/gigabyte.116
Peter Menzel

With the advancement of long-read sequencing technologies and their increasing use for bacterial genomics, several methods for generating genome assemblies from error-prone long reads have been developed. These are complemented by various tools for assembly polishing using either long reads, short reads, or reference genomes. End users are therefore left with a plethora of possible combinations of programs for obtaining a final trusted assembly. Hence, there is also a need to measure the completeness and accuracy of such assemblies, for which, again, several evaluation methods implemented in various programs are available. In order to automatically run multiple genome assembly and evaluation programs at once, I developed two workflows for the workflow management system Snakemake, which provide end users with an easy-to-run solution for testing various genome assemblies from their sequencing data. Both workflows use the conda packaging system, so there is no need for manual installation of each program.

Availability & implementation: The workflows are available as open source software under the MIT license at github.com/pmenzel/ont-assembly-snake and github.com/pmenzel/score-assemblies.

随着长读数测序技术的发展及其在细菌基因组学中的应用日益广泛,已经开发出了几种从容易出错的长读数中生成基因组装配的方法。此外,还有各种利用长读数、短读数或参考基因组进行组装抛光的工具。因此,最终用户只能通过大量可能的程序组合来获得最终可信的组装结果。因此,还需要对这些组装的完整性和准确性进行测量,为此,在各种程序中也提供了多种评估方法。为了一次自动运行多个基因组组装和评估程序,我为工作流管理系统 Snakemake 开发了两个工作流,为终端用户提供了一个易于运行的解决方案,以测试其测序数据中的各种基因组组装。这两个工作流程都使用 conda 打包系统,因此无需手动安装每个程序:这两个工作流均为 MIT 许可下的开源软件,分别位于 github.com/pmenzel/ont-assembly-snake 和 github.com/pmenzel/score-assemblies。
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引用次数: 0
Whole genome assembly and annotation of the King Angelfish (Holacanthus passer) gives insight into the evolution of marine fishes of the Tropical Eastern Pacific. 帝王姬鱼(Holacanthus passer)的全基因组组装和注释有助于深入了解热带东太平洋海洋鱼类的进化。
Pub Date : 2024-03-21 eCollection Date: 2024-01-01 DOI: 10.46471/gigabyte.115
Remy Gatins, Carlos F Arias, Carlos Sánchez, Giacomo Bernardi, Luis F De León

Holacanthus angelfishes are some of the most iconic marine fishes of the Tropical Eastern Pacific (TEP). However, very limited genomic resources currently exist for the genus. In this study we: (i) assembled and annotated the nuclear genome of the King Angelfish (Holacanthus passer), and (ii) examined the demographic history of H. passer in the TEP. We generated 43.8 Gb of ONT and 97.3 Gb Illumina reads representing 75× and 167× coverage, respectively. The final genome assembly size was 583 Mb with a contig N50 of 5.7 Mb, which captured 97.5% of the complete Actinoterygii Benchmarking Universal Single-Copy Orthologs (BUSCOs). Repetitive elements accounted for 5.09% of the genome, and 33,889 protein-coding genes were predicted, of which 22,984 were functionally annotated. Our demographic analysis suggests that population expansions of H. passer occurred prior to the last glacial maximum (LGM) and were more likely shaped by events associated with the closure of the Isthmus of Panama. This result is surprising, given that most rapid population expansions in both freshwater and marine organisms have been reported to occur globally after the LGM. Overall, this annotated genome assembly provides a novel molecular resource to study the evolution of Holacanthus angelfishes, while facilitating research into local adaptation, speciation, and introgression in marine fishes.

天使鱼(Holacanthus angelfishes)是东太平洋热带地区(TEP)一些最具代表性的海洋鱼类。然而,目前该属的基因组资源非常有限。在这项研究中,我们(i) 组装并注释了帝王吴郭鱼(Holacanthus passer)的核基因组,(ii) 研究了帝王吴郭鱼在热带东太平洋的种群历史。我们生成了 43.8 Gb ONT 和 97.3 Gb Illumina 读数,覆盖率分别为 75 倍和 167 倍。最终的基因组组装大小为 583 Mb,等位基因 N50 为 5.7 Mb,捕获了 97.5% 的完整的放线虫基准通用单拷贝同源物(BUSCOs)。重复元件占基因组的 5.09%,预测了 33,889 个编码蛋白质的基因,其中 22,984 个已进行了功能注释。我们的人口学分析表明,H. passer的种群扩张发生在上一个冰川极盛时期(LGM)之前,更有可能是由与巴拿马地峡关闭相关的事件形成的。这一结果令人惊讶,因为据报道,淡水和海洋生物的大多数快速种群扩张都发生在全球大冰川时期之后。总之,该注释基因组的组装为研究 Holacanthus Angelf 鱼的进化提供了新的分子资源,同时也促进了对海洋鱼类的局部适应、物种分化和引种的研究。
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引用次数: 0
Molecular Property Diagnostic Suite for COVID-19 (MPDSCOVID-19): an open-source disease-specific drug discovery portal. 用于 COVID-19 的分子特性诊断套件(MPDSCOVID-19):一个开源的疾病特异性药物发现门户网站。
Pub Date : 2024-03-14 eCollection Date: 2024-01-01 DOI: 10.46471/gigabyte.114
Lipsa Priyadarsinee, Esther Jamir, Selvaraman Nagamani, Hridoy Jyoti Mahanta, Nandan Kumar, Lijo John, Himakshi Sarma, Asheesh Kumar, Anamika Singh Gaur, Rosaleen Sahoo, S Vaikundamani, N Arul Murugan, U Deva Priyakumar, G P S Raghava, Prasad V Bharatam, Ramakrishnan Parthasarathi, V Subramanian, G Madhavi Sastry, G Narahari Sastry

Molecular Property Diagnostic Suite (MPDS) was conceived and developed as an open-source disease-specific web portal based on Galaxy. MPDSCOVID-19 was developed for COVID-19 as a one-stop solution for drug discovery research. Galaxy platforms enable the creation of customized workflows connecting various modules in the web server. The architecture of MPDSCOVID-19 effectively employs Galaxy v22.04 features, which are ported on CentOS 7.8 and Python 3.7. MPDSCOVID-19 provides significant updates and the addition of several new tools updated after six years. Tools developed by our group in Perl/Python and open-source tools are collated and integrated into MPDSCOVID-19 using XML scripts. Our MPDS suite aims to facilitate transparent and open innovation. This approach significantly helps bring inclusiveness in the community while promoting free access and participation in software development.

Availability & implementation: The MPDSCOVID-19 portal can be accessed at https://mpds.neist.res.in:8085/.

Molecular Property Diagnostic Suite (MPDS) 是基于 Galaxy 构想和开发的一个开源疾病特定门户网站。MPDSCOVID-19 是为 COVID-19 开发的药物发现研究一站式解决方案。通过 Galaxy 平台,可以创建连接网络服务器中各种模块的定制工作流程。MPDSCOVID-19 的架构有效利用了 Galaxy v22.04 的功能,并在 CentOS 7.8 和 Python 3.7 上进行了移植。MPDSCOVID-19 在六年后进行了重大更新,并增加了几个新工具。我们小组用 Perl/Python 开发的工具和开源工具经过整理,使用 XML 脚本集成到了 MPDSCOVID-19 中。我们的 MPDS 套件旨在促进透明、开放的创新。这种方法大大有助于提高社区的包容性,同时促进自由访问和参与软件开发:MPDSCOVID-19 门户网站的访问网址为 https://mpds.neist.res.in:8085/。
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引用次数: 0
Julearn: an easy-to-use library for leakage-free evaluation and inspection of ML models. Julearn:一个易于使用的库,用于对 ML 模型进行无泄漏评估和检查。
Pub Date : 2024-03-07 eCollection Date: 2024-01-01 DOI: 10.46471/gigabyte.113
Sami Hamdan, Shammi More, Leonard Sasse, Vera Komeyer, Kaustubh R Patil, Federico Raimondo

The fast-paced development of machine learning (ML) and its increasing adoption in research challenge researchers without extensive training in ML. In neuroscience, ML can help understand brain-behavior relationships, diagnose diseases and develop biomarkers using data from sources like magnetic resonance imaging and electroencephalography. Primarily, ML builds models to make accurate predictions on unseen data. Researchers evaluate models' performance and generalizability using techniques such as cross-validation (CV). However, choosing a CV scheme and evaluating an ML pipeline is challenging and, if done improperly, can lead to overestimated results and incorrect interpretations. Here, we created julearn, an open-source Python library allowing researchers to design and evaluate complex ML pipelines without encountering common pitfalls. We present the rationale behind julearn's design, its core features, and showcase three examples of previously-published research projects. Julearn simplifies the access to ML providing an easy-to-use environment. With its design, unique features, simple interface, and practical documentation, it poses as a useful Python-based library for research projects.

机器学习(ML)的发展日新月异,在研究领域的应用也日益广泛,这对没有接受过广泛 ML 培训的研究人员提出了挑战。在神经科学领域,ML 可以帮助理解大脑与行为之间的关系,利用磁共振成像和脑电图等数据源诊断疾病和开发生物标记物。ML 主要是建立模型,对未见数据进行准确预测。研究人员使用交叉验证(CV)等技术评估模型的性能和可推广性。然而,选择交叉验证方案和评估 ML 管道具有挑战性,如果操作不当,可能会导致结果被高估和解释错误。在这里,我们创建了 julearn,这是一个开源 Python 库,允许研究人员设计和评估复杂的 ML 管道,而不会遇到常见的陷阱。我们介绍了 julearn 的设计原理、核心功能,并展示了之前发表的三个研究项目实例。Julearn 提供了一个易于使用的环境,简化了对 ML 的访问。凭借其设计、独特的功能、简单的界面和实用的文档,它成为研究项目中一个有用的基于 Python 的库。
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引用次数: 0
An improved chromosome-level genome assembly of perennial ryegrass (Lolium perenne L.). 改进的多年生黑麦草(Lolium perenne L.)染色体组水平基因组组装。
Pub Date : 2024-03-06 eCollection Date: 2024-01-01 DOI: 10.46471/gigabyte.112
Yutang Chen, Roland Kölliker, Martin Mascher, Dario Copetti, Axel Himmelbach, Nils Stein, Bruno Studer

This work is an update and extension of the previously published article "Ultralong Oxford Nanopore Reads Enable the Development of a Reference-Grade Perennial Ryegrass Genome Assembly" by Frei et al. The published genome assembly of the doubled haploid perennial ryegrass (Lolium perenne L.) genotype Kyuss (Kyuss v1.0) marked a milestone for forage grass research and breeding. However, order and orientation errors may exist in the pseudo-chromosomes of Kyuss, since barley (Hordeum vulgare L.), which diverged 30 million years ago from perennial ryegrass, was used as the reference to scaffold Kyuss. To correct for structural errors possibly present in the published Kyuss assembly, we de novo assembled the genome again and generated 50-fold coverage high-throughput chromosome conformation capture (Hi-C) data to assist pseudo-chromosome construction. The resulting new chromosome-level assembly Kyuss v2.0 showed improved quality with high contiguity (contig N50 = 120 Mb), high completeness (total BUSCO score = 99%), high base-level accuracy (QV = 50), and correct pseudo-chromosome structure (validated by Hi-C contact map). This new assembly will serve as a better reference genome for Lolium spp. and greatly benefit the forage and turf grass research community.

这项工作是对 Frei 等人以前发表的文章《超长牛津纳米孔读数促成了参考级多年生黑麦草基因组组装的开发》的更新和扩展。双倍单倍体多年生黑麦草(Lolium perenne L.)基因型 Kyuss(Kyuss v1.0)基因组组装的发表标志着牧草研究和育种的一个里程碑。然而,由于大麦(Hordeum vulgare L.)与多年生黑麦草在 3000 万年前就已分化,因此 Kyuss 的假染色体可能存在顺序和方向错误。为了纠正已发表的 Kyuss 组装中可能存在的结构错误,我们重新组装了基因组,并生成了 50 倍覆盖率的高通量染色体构象捕获(Hi-C)数据,以帮助构建假染色体。由此产生的新的染色体级组装Kyuss v2.0显示出更高的质量,具有高毗连性(毗连N50 = 120 Mb)、高完整性(BUSCO总分 = 99%)、高碱基水平准确性(QV = 50)和正确的假染色体结构(由Hi-C接触图验证)。这一新的基因组将成为更好的洛仑草属(Lolium spp.)参考基因组,对牧草和草坪草研究界大有裨益。
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引用次数: 0
Citizen science data on urban forageable plants: a case study in Brazil. 关于城市可食用植物的公民科学数据:巴西案例研究。
Pub Date : 2024-02-21 eCollection Date: 2024-01-01 DOI: 10.46471/gigabyte.107
Filipi Miranda Soares, Luís Ferreira Pires, Maria Carolina Garcia, Lidio Coradin, Natalia Pirani Ghilardi-Lopes, Rubens Rangel Silva, Aline Martins de Carvalho, Anand Gavai, Yamine Bouzembrak, Benildes Coura Moreira Dos Santos Maculan, Sheina Koffler, Uiara Bandineli Montedo, Debora Pignatari Drucker, Raquel Santiago, Maria Clara Peres de Carvalho, Ana Carolina da Silva Lima, Hillary Dandara Elias Gabriel, Stephanie Gabriele Mendonça de França, Karoline Reis de Almeida, Bárbara Junqueira Dos Santos, Antonio Mauro Saraiva

This paper presents two key data sets derived from the Pomar Urbano project. The first data set is a comprehensive catalog of edible fruit-bearing plant species, native or introduced to Brazil. The second data set, sourced from the iNaturalist platform, tracks the distribution and monitoring of these plants within urban landscapes across Brazil. The study includes data from the capitals of all 27 federative units of Brazil, focusing on the ten cities that contributed the most observations as of August 2023. The research emphasizes the significance of citizen science in urban biodiversity monitoring and its potential to contribute to various fields, including food and nutrition, creative industry, study of plant phenology, and machine learning applications. We expect the data sets presented in this paper to serve as resources for further studies in urban foraging, food security, cultural ecosystem services, and environmental sustainability.

本文介绍了 Pomar Urbano 项目的两个关键数据集。第一个数据集是巴西本土或引进的可食用果实植物物种的综合目录。第二个数据集来自 iNaturalist 平台,跟踪这些植物在巴西城市景观中的分布和监测情况。这项研究包括巴西全部 27 个联邦单位首府的数据,重点是截至 2023 年 8 月提供观测数据最多的十个城市。这项研究强调了公民科学在城市生物多样性监测中的重要意义,以及其在食品与营养、创意产业、植物物候学研究和机器学习应用等多个领域的潜在贡献。我们希望本文介绍的数据集能成为进一步研究城市觅食、食品安全、文化生态系统服务和环境可持续性的资源。
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引用次数: 0
A novel variable neighborhood search approach for cell clustering for spatial transcriptomics. 用于空间转录组学细胞聚类的新型变量邻域搜索法
Pub Date : 2024-02-20 eCollection Date: 2024-01-01 DOI: 10.46471/gigabyte.109
Aleksandra Djordjevic, Junhua Li, Shuangsang Fang, Lei Cao, Marija Ivanovic

This paper introduces a new approach to cell clustering using the Variable Neighborhood Search (VNS) metaheuristic. The purpose of this method is to cluster cells based on both gene expression and spatial coordinates. Initially, we confronted this clustering challenge as an Integer Linear Programming minimization problem. Our approach introduced a novel model based on the VNS technique, demonstrating the efficacy in navigating the complexities of cell clustering. Notably, our method extends beyond conventional cell-type clustering to spatial domain clustering. This adaptability enables our algorithm to orchestrate clusters based on information gleaned from gene expression matrices and spatial coordinates. Our validation showed the superior performance of our method when compared to existing techniques. Our approach advances current clustering methodologies and can potentially be applied to several fields, from biomedical research to spatial data analysis.

本文介绍了一种利用可变邻域搜索(VNS)元启发式进行细胞聚类的新方法。这种方法的目的是根据基因表达和空间坐标对细胞进行聚类。起初,我们将这一聚类难题视为整数线性规划最小化问题。我们的方法在 VNS 技术的基础上引入了一个新模型,证明了它在驾驭复杂的细胞聚类方面的功效。值得注意的是,我们的方法已从传统的细胞类型聚类扩展到空间领域聚类。这种适应性使我们的算法能够根据从基因表达矩阵和空间坐标中收集到的信息协调聚类。我们的验证结果表明,与现有技术相比,我们的方法性能优越。我们的方法推进了当前的聚类方法,有可能应用于从生物医学研究到空间数据分析等多个领域。
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引用次数: 0
BatchEval Pipeline: batch effect evaluation workflow for multiple datasets joint analysis. BatchEval Pipeline:用于多个数据集联合分析的批量效应评估工作流程。
Pub Date : 2024-02-20 eCollection Date: 2024-01-01 DOI: 10.46471/gigabyte.108
Chao Zhang, Qiang Kang, Mei Li, Hongqing Xie, Shuangsang Fang, Xun Xu

As genomic sequencing technology continues to advance, it becomes increasingly important to perform joint analyses of multiple datasets of transcriptomics. However, batch effect presents challenges for dataset integration, such as sequencing data measured on different platforms, and datasets collected at different times. Here, we report the development of BatchEval Pipeline, a batch effect workflow used to evaluate batch effect on dataset integration. The BatchEval Pipeline generates a comprehensive report, which consists of a series of HTML pages for assessment findings, including a main page, a raw dataset evaluation page, and several built-in methods evaluation pages. The main page exhibits basic information of the integrated datasets, a comprehensive score of batch effect, and the most recommended method for removing batch effect from the current datasets. The remaining pages exhibit evaluation details for the raw dataset, and evaluation results from the built-in batch effect removal methods after removing batch effect. This comprehensive report enables researchers to accurately identify and remove batch effects, resulting in more reliable and meaningful biological insights from integrated datasets. In summary, the BatchEval Pipeline represents a significant advancement in batch effect evaluation, and is a valuable tool to improve the accuracy and reliability of the experimental results.

Availability & implementation: The source code of the BatchEval Pipeline is available at https://github.com/STOmics/BatchEval.

随着基因组测序技术的不断进步,对多个转录组学数据集进行联合分析变得越来越重要。然而,批次效应给数据集整合带来了挑战,例如在不同平台测量的测序数据和在不同时间采集的数据集。在此,我们报告了 BatchEval Pipeline 的开发情况,这是一个批次效应工作流,用于评估数据集整合的批次效应。BatchEval Pipeline 生成的综合报告由一系列用于评估结果的 HTML 页面组成,包括一个主页面、一个原始数据集评估页面和几个内置方法评估页面。主页面展示了集成数据集的基本信息、批量效应的综合评分,以及从当前数据集中去除批量效应的最推荐方法。其余页面展示了原始数据集的评估详情,以及内置批量效应去除方法在去除批量效应后的评估结果。这份全面的报告能帮助研究人员准确识别和去除批次效应,从而从集成数据集中获得更可靠、更有意义的生物学见解。总之,BatchEval 管道代表了批次效应评估的重大进步,是提高实验结果准确性和可靠性的重要工具:BatchEval Pipeline 的源代码可从 https://github.com/STOmics/BatchEval 获取。
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引用次数: 0
Generating single-cell gene expression profiles for high-resolution spatial transcriptomics based on cell boundary images. 基于细胞边界图像生成高分辨率空间转录组学的单细胞基因表达谱。
Pub Date : 2024-02-20 eCollection Date: 2024-01-01 DOI: 10.46471/gigabyte.110
Bohan Zhang, Mei Li, Qiang Kang, Zhonghan Deng, Hua Qin, Kui Su, Xiuwen Feng, Lichuan Chen, Huanlin Liu, Shuangsang Fang, Yong Zhang, Yuxiang Li, Susanne Brix, Xun Xu

In spatially resolved transcriptomics, Stereo-seq facilitates the analysis of large tissues at the single-cell level, offering subcellular resolution and centimeter-level field-of-view. Our previous work on StereoCell introduced a one-stop software using cell nuclei staining images and statistical methods to generate high-confidence single-cell spatial gene expression profiles for Stereo-seq data. With advancements allowing the acquisition of cell boundary information, such as cell membrane/wall staining images, we updated our software to a new version, STCellbin. Using cell nuclei staining images, STCellbin aligns cell membrane/wall staining images with spatial gene expression maps. Advanced cell segmentation ensures the detection of accurate cell boundaries, leading to more reliable single-cell spatial gene expression profiles. We verified that STCellbin can be applied to mouse liver (cell membranes) and Arabidopsis seed (cell walls) datasets, outperforming other methods. The improved capability of capturing single-cell gene expression profiles results in a deeper understanding of the contribution of single-cell phenotypes to tissue biology.

Availability & implementation: The source code of STCellbin is available at https://github.com/STOmics/STCellbin.

在空间分辨转录组学中,Stereo-seq 可提供亚细胞分辨率和厘米级视场,有助于在单细胞水平分析大型组织。我们之前在 StereoCell 方面的研究推出了一款一站式软件,利用细胞核染色图像和统计方法为 Stereoseq 数据生成高置信度的单细胞空间基因表达谱。随着获取细胞边界信息(如细胞膜/壁染色图像)技术的进步,我们将软件更新为新版本 STCellbin。STCellbin 利用细胞核染色图像,将细胞膜/壁染色图像与空间基因表达图谱对齐。先进的细胞分割技术可确保检测到准确的细胞边界,从而获得更可靠的单细胞空间基因表达图谱。我们验证了 STCellbin 可用于小鼠肝脏(细胞膜)和拟南芥种子(细胞壁)数据集,其性能优于其他方法。单细胞基因表达谱捕获能力的提高有助于深入了解单细胞表型对组织生物学的贡献:STCellbin的源代码可在https://github.com/STOmics/STCellbin。
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引用次数: 0
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