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Kinship analysis and pedigree reconstruction by RAD sequencing in cattle. 通过 RAD 测序对牛进行亲缘关系分析和血统重建。
Pub Date : 2024-07-18 eCollection Date: 2024-01-01 DOI: 10.46471/gigabyte.131
Yiming Xu, Wanqiu Wang, Jiefeng Huang, Minjie Xu, Binhu Wang, Yingsong Wu, Yongzhong Xie, Jianbo Jian

Kinship and pedigree, used for estimating inbreeding, heritability, selection, and gene flow, are useful for breeding and animal conservation. However, as the size of crossbred populations increases, inaccurate generation and parentage assignment in livestock farms increase. Restriction-site-associated DNA sequencing is a cost-effective platform for single nucleotide polymorphism (SNP) discovery and genotyping. Here, we performed a kinship analysis and pedigree reconstruction for Angus and Xiangxi yellow cattle. A total of 975 cattle, including 923 offspring with 24 known sires and 28 known dams, were sampled and subjected to SNP discovery and genotyping. The identified SNP panel included 7,305 SNPs capturing the maximum difference between paternal and maternal genome information, allowing us to distinguish F1 from F2 generations with 90% accuracy. In conclusion, we provided a low-cost and efficient SNP panel for kinship analyses and the improvement of local genetic resources, which are valuable for breed improvement, local resource utilization, and conservation.

亲缘关系和血统用于估计近亲繁殖、遗传率、选择和基因流,对育种和动物保护非常有用。然而,随着杂交种群规模的扩大,畜牧场中不准确的世代和亲子鉴定也在增加。限制性位点相关 DNA 测序是发现单核苷酸多态性(SNP)和进行基因分型的一种经济有效的平台。在此,我们对安格斯牛和湘西黄牛进行了亲缘关系分析和血统重建。我们对总共 975 头牛(包括 923 头后代,其中有 24 头已知的父牛和 28 头已知的母牛)进行了采样,并进行了 SNP 发现和基因分型。确定的 SNP 面板包括 7,305 个 SNP,捕获了父系和母系基因组信息的最大差异,使我们能够以 90% 的准确率区分 F1 和 F2 代。总之,我们为亲缘关系分析和地方遗传资源改良提供了一个低成本、高效率的 SNP 面板,这对品种改良、地方资源利用和保护都很有价值。
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引用次数: 0
Low-coverage whole genome sequencing for a highly selective cohort of severe COVID-19 patients. 为高度选择性的严重 COVID-19 患者队列进行低覆盖率全基因组测序。
Pub Date : 2024-06-20 eCollection Date: 2024-01-01 DOI: 10.46471/gigabyte.127
Renato Santos, Víctor Moreno-Torres, Ilduara Pintos, Octavio Corral, Carmen de Mendoza, Vicente Soriano, Manuel Corpas

Despite the advances in genetic marker identification associated with severe COVID-19, the full genetic characterisation of the disease remains elusive. This study explores imputation in low-coverage whole genome sequencing for a severe COVID-19 patient cohort. We generated a dataset of 79 imputed variant call format files using the GLIMPSE1 tool, each containing an average of 9.5 million single nucleotide variants. Validation revealed a high imputation accuracy (squared Pearson correlation ≍0.97) across sequencing platforms, showcasing GLIMPSE1's ability to confidently impute variants with minor allele frequencies as low as 2% in individuals with Spanish ancestry. We carried out a comprehensive analysis of the patient cohort, examining hospitalisation and intensive care utilisation, sex and age-based differences, and clinical phenotypes using a standardised set of medical terms developed to characterise severe COVID-19 symptoms. The methods and findings presented here can be leveraged for future genomic projects to gain vital insights into health challenges like COVID-19.

尽管在与重度 COVID-19 相关的遗传标记鉴定方面取得了进展,但该疾病的全部遗传特征仍然难以确定。本研究探讨了在低覆盖率全基因组测序中对重症 COVID-19 患者队列的估算。我们使用 GLIMPSE1 工具生成了一个包含 79 个估算变异调用格式文件的数据集,每个文件平均包含 950 万个单核苷酸变异。验证结果显示,GLIMPSE1 在各种测序平台上都具有很高的估算准确性(平方皮尔逊相关性 ≍0.97),展示了 GLIMPSE1 在西班牙血统个体中对小等位基因频率低至 2% 的变异进行可靠估算的能力。我们对患者队列进行了全面分析,使用一套为描述严重 COVID-19 症状而开发的标准化医学术语,检查了住院和重症监护使用情况、性别和年龄差异以及临床表型。本文介绍的方法和研究结果可用于未来的基因组项目,以深入了解 COVID-19 等健康挑战。
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引用次数: 0
PhysiCell Studio: a graphical tool to make agent-based modeling more accessible. PhysiCell Studio:一种使基于代理的建模更易于使用的图形工具。
Pub Date : 2024-06-19 eCollection Date: 2024-01-01 DOI: 10.46471/gigabyte.128
Randy Heiland, Daniel Bergman, Blair Lyons, Grant Waldow, Julie Cass, Heber Lima da Rocha, Marco Ruscone, Vincent Noël, Paul Macklin

Defining a multicellular model can be challenging. There may be hundreds of parameters that specify the attributes and behaviors of objects. In the best case, the model will be defined using some format specification - a markup language - that will provide easy model sharing (and a minimal step toward reproducibility). PhysiCell is an open-source, physics-based multicellular simulation framework with an active and growing user community. It uses XML to define a model and, traditionally, users needed to manually edit the XML to modify the model. PhysiCell Studio is a tool to make this task easier. It provides a GUI that allows editing the XML model definition, including the creation and deletion of fundamental objects: cell types and substrates in the microenvironment. It also lets users build their model by defining initial conditions and biological rules, run simulations, and view results interactively. PhysiCell Studio has evolved over multiple workshops and academic courses in recent years, which has led to many improvements. There is both a desktop and cloud version. Its design and development has benefited from an active undergraduate and graduate research program. Like PhysiCell, the Studio is open-source software and contributions from the community are encouraged.

定义多细胞模型是一项挑战。可能有数以百计的参数指定对象的属性和行为。在最好的情况下,模型将使用某种格式规范--标记语言--来定义,这将为模型共享提供方便(也是实现可重复性的最基本步骤)。PhysiCell 是一个开源的、基于物理学的多细胞仿真框架,拥有一个活跃的、不断增长的用户社区。它使用 XML 来定义模型,传统上,用户需要手动编辑 XML 来修改模型。PhysiCell Studio 是一个让这项工作变得更简单的工具。它提供了一个图形用户界面,允许编辑 XML 模型定义,包括创建和删除基本对象:微环境中的细胞类型和基质。用户还可以通过定义初始条件和生物规则来构建模型,运行模拟并交互式查看结果。近年来,PhysiCell Studio 在多个研讨会和学术课程中不断发展,取得了许多改进。该软件有桌面版和云计算版。它的设计和开发得益于活跃的本科生和研究生研究项目。与PhysiCell一样,Studio也是开源软件,鼓励社区贡献。
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引用次数: 0
Multicellular, IVT-derived, unmodified human transcriptome for nanopore-direct RNA analysis. 用于纳米孔直接 RNA 分析的多细胞、IVT 衍生、未修饰的人类转录组。
Pub Date : 2024-06-17 eCollection Date: 2024-01-01 DOI: 10.46471/gigabyte.129
Caroline A McCormick, Stuart Akeson, Sepideh Tavakoli, Dylan Bloch, Isabel N Klink, Miten Jain, Sara H Rouhanifard

Nanopore direct RNA sequencing (DRS) enables measurements of RNA modifications. Modification-free transcripts are a practical and targeted control for DRS, providing a baseline measurement for canonical nucleotides within a matched and biologically-derived sequence context. However, these controls can be challenging to generate and carry nanopore-specific nuances that can impact analyses. We produced DRS datasets using modification-free transcripts from in vitro transcription of cDNA from six immortalized human cell lines. We characterized variation across cell lines and demonstrated how these may be interpreted. These data will serve as a versatile control and resource to the community for RNA modification analyses of human transcripts.

纳米孔直接 RNA 测序(DRS)可以测量 RNA 的修饰。不含修饰的转录本是 DRS 的一种实用且有针对性的对照,可在匹配的生物序列上下文中提供标准核苷酸的基线测量。然而,这些对照组的生成可能具有挑战性,而且纳米孔特有的细微差别会影响分析结果。我们使用从六个永生化人类细胞系体外转录 cDNA 的无修饰转录本制作了 DRS 数据集。我们描述了不同细胞系之间的差异,并演示了如何解释这些差异。这些数据将作为通用对照和资源提供给社区,用于人类转录本的 RNA 修饰分析。
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引用次数: 0
Get Free Copy: a multi-repository search platform for biomedical publications. 免费获取副本:生物医学出版物的多库检索平台。
Pub Date : 2024-05-29 eCollection Date: 2024-01-01 DOI: 10.46471/gigabyte.126
Nodir Kosimkhujaev, Kuan-Lin Huang

We introduce Get Free Copy (https://getfreecopy.com), a web-based platform designed to streamline the search for biomedical literature across major repositories like arXiv, bioRxiv, medRxiv, and PubMed Central (PMC). Addressing challenges posed by paywalls and fragmented databases, it offers a unified interface for efficient retrieval of free, legitimate copies of biomedical literature. The platform's implementation involves a Node.js backend and dynamic front-end display, enhancing accessibility and research efficiency. As an open-source project, Get Free Copy represents a significant contribution to the open-access movement, inviting global researcher collaboration for further development.

我们介绍 Get Free Copy (https://getfreecopy.com),这是一个基于网络的平台,旨在简化在 arXiv、bioRxiv、medRxiv 和 PubMed Central (PMC) 等主要文献库中搜索生物医学文献的过程。为了应对付费墙和分散数据库带来的挑战,该平台提供了一个统一的界面,用于高效检索生物医学文献的免费合法副本。该平台的实施包括 Node.js 后端和动态前端显示,从而提高了可访问性和研究效率。作为一个开源项目,Get Free Copy 对开放获取运动做出了重大贡献,并邀请全球研究人员合作进一步开发。
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引用次数: 0
Genome assembly of the rare and endangered Grantham's camellia, Camellia granthamiana. 稀有濒危的格兰瑟姆山茶花(Camellia granthamiana)的基因组组装。
Pub Date : 2024-05-20 eCollection Date: 2024-01-01 DOI: 10.46471/gigabyte.124

Grantham's camellia (Camellia granthamiana Sealy) is a rare and endangered tea species discovered in Hong Kong in 1955 and endemic to southern China. Despite its high conservation value, the genomic resources of C. granthamiana are limited. Here, we present a chromosome-scale draft genome of the tetraploid C. granthamiana (2n = 4x = 60), combining PacBio long-read sequencing and Omni-C data. The assembled genome size is ∼2.4 Gb, with most sequences anchored to 15 pseudochromosomes resembling a monoploid genome. The genome has high contiguity, with a scaffold N50 of 139.7 Mb, and high completeness (97.8% BUSCO score). Our gene model prediction resulted in 68,032 protein-coding genes (BUSCO score of 90.9%). We annotated 1.65 Gb of repeat content (68.48% of the genome). Our Grantham's camellia genome assembly is a valuable resource for investigating Grantham's camellia's biology, ecology, and phylogenomic relationships with other Camellia species, and provides a foundation for further conservation measures.

葛氏山茶(Camellia granthamiana Sealy)是1955年在香港发现的稀有濒危茶树品种,为中国南方特有物种。尽管它具有很高的保护价值,但C. granthamiana的基因组资源却很有限。在此,我们结合 PacBio 长线程测序和 Omni-C 数据,提出了四倍体 C. granthamiana(2n = 4x = 60)的染色体级基因组草案。组装的基因组大小为 2.4 Gb,大部分序列锚定在 15 个假染色体上,类似于单倍体基因组。基因组的连续性很高,支架 N50 为 139.7 Mb,完整性也很高(97.8% BUSCO 得分)。我们的基因模型预测得出了 68,032 个蛋白质编码基因(BUSCO 得分为 90.9%)。我们注释了 1.65 Gb 的重复内容(占基因组的 68.48%)。我们的格兰山茶花基因组组装是研究格兰山茶花生物学、生态学以及与其他山茶花物种系统发育关系的宝贵资源,并为进一步的保护措施奠定了基础。
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引用次数: 0
Jellyfish in Hong Kong: a citizen science dataset. 香港的水母:公民科学数据集。
Pub Date : 2024-05-20 eCollection Date: 2024-01-01 DOI: 10.46471/gigabyte.125
John Terenzini, Yannan Fan, Melissa Jean-Yi Liu, Laura J Falkenberg

The Hong Kong Jellyfish Project is a citizen science initiative started in early 2021 to enhance our understanding of jellyfish in Hong Kong. Here, we present a dataset of jellyfish sightings collected by citizen scientists from 2021 through 2023 within local waters. Citizen scientists submitted photographs and other data (time, date, and location) using a website, iNaturalist project, and social media. Sightings were validated using references from the literature. A total of 1,020 usable observations are included in this dataset, showing the occurrence and distribution of jellyfish in Hong Kong in 2021-2023. This dataset is now publicly available and discoverable in the Global Biodiversity Information Facility database and is available for download. This data can be used to enhance our understanding of the biodiversity of local marine ecosystems.

香港水母计划是一项公民科学计划,于2021年初展开,旨在加深我们对香港水母的认识。在此,我们展示市民科学家于2021年至2023年期间在本港水域发现水母的数据集。市民科学家通过网站、iNaturalist 项目和社交媒体提交照片和其他数据(时间、日期和地点)。观测结果通过参考文献进行验证。本数据集共包含 1,020 个可用观测数据,显示了 2021-2023 年香港水母的出现和分布情况。這個數據集現已在全球生物多樣性資訊基金的數據庫中公開發放,可供下載。這些數據可用於加深我們對本地海洋生態系統生物多樣性的了解。
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引用次数: 0
De novo transcriptome assembly and genome annotation of the fat-tailed dunnart (Sminthopsis crassicaudata). 肥尾盾尾鱼(Sminthopsis crassicaudata)的全新转录组组装和基因组注释。
Pub Date : 2024-05-02 eCollection Date: 2024-01-01 DOI: 10.46471/gigabyte.118
Neke Ibeh, Charles Y Feigin, Stephen R Frankenberg, Davis J McCarthy, Andrew J Pask, Irene Gallego Romero

Marsupials exhibit distinctive modes of reproduction and early development that set them apart from their eutherian counterparts and render them invaluable for comparative studies. However, marsupial genomic resources still lag far behind those of eutherian mammals. We present a series of novel genomic resources for the fat-tailed dunnart (Sminthopsis crassicaudata), a mouse-like marsupial that, due to its ease of husbandry and ex-utero development, is emerging as a laboratory model. We constructed a highly representative multi-tissue de novo transcriptome assembly of dunnart RNA-seq reads spanning 12 tissues. The transcriptome includes 2,093,982 assembled transcripts and has a mammalian transcriptome BUSCO completeness score of 93.3%, the highest amongst currently published marsupial transcriptomes. This global transcriptome, along with ab initio predictions, supported annotation of the existing dunnart genome, revealing 21,622 protein-coding genes. Altogether, these resources will enable wider use of the dunnart as a model marsupial and deepen our understanding of mammalian genome evolution.

有袋类动物在繁殖和早期发育方面表现出独特的模式,这使它们有别于有蹄类动物,也使它们成为比较研究的宝贵对象。然而,有袋类动物的基因组资源仍然远远落后于有蹄类哺乳动物。我们为肥尾盾尾鼠(Sminthopsis crassicaudata)提供了一系列新的基因组资源,肥尾盾尾鼠是一种类似小鼠的有袋类动物,由于其易于饲养和胎前发育,正逐渐成为一种实验室模型。我们构建了一个极具代表性的多组织从头转录组,该转录组包含 12 个组织的邓纳特 RNA-seq 读数。该转录组包括 2,093,982 个已组装的转录本,哺乳动物转录组 BUSCO 完整性得分为 93.3%,是目前已发表的有袋动物转录组中最高的。该全球转录组与ab initio预测一起支持了对现有敦纳特基因组的注释,揭示了21622个编码蛋白质的基因。总之,这些资源将使我们能够更广泛地利用敦奈特作为有袋类动物的模型,并加深我们对哺乳动物基因组进化的了解。
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引用次数: 0
Chromosomal-level genome assembly of golden birdwing Troides aeacus (Felder & Felder, 1860). 金色鸟翼 Troides aeacus (Felder & Felder, 1860) 染色体级基因组组装。
Pub Date : 2024-04-25 eCollection Date: 2024-01-01 DOI: 10.46471/gigabyte.122

The golden birdwing Troides aeacus (Lepidoptera, Papilionidae), a significant species in Asia, faces habitat loss due to urbanization and human activities, necessitating its protection. However, the lack of genomic resources hinders our understanding of their biology and diversity, and impedes our conservation efforts based on genetic information or markers. Here, we present the first chromosomal-level genome assembly of T. aeacus using PacBio SMRT and Omni-C scaffolding technologies. The assembled genome (351 Mb) contains 98.94% of the sequences anchored to 30 pseudo-molecules. The genome assembly has high sequence continuity with contig length N50 = 11.67 Mb and L50 = 14, and scaffold length N50 = 12.2 Mb and L50 = 13. A total of 24,946 protein-coding genes were predicted, with high BUSCO score completeness (98.8% and 94.7% of genome and proteome BUSCO, respectively. This genome offers a significant resource for understanding the swallowtail butterfly biology and carrying out its conservation.

金翅鸟Troides aeacus(鳞翅目,凤蝶科)是亚洲的一个重要物种,由于城市化和人类活动,其栖息地面临丧失,因此有必要对其进行保护。然而,基因组资源的缺乏阻碍了我们对其生物学和多样性的了解,也阻碍了我们基于遗传信息或标记的保护工作。在这里,我们利用 PacBio SMRT 和 Omni-C 支架技术首次完成了 T. aeacus 的染色体级基因组组装。组装完成的基因组(351 Mb)包含了锚定在 30 个假分子上的 98.94% 的序列。基因组组装具有较高的序列连续性,等位长度 N50 = 11.67 Mb,L50 = 14,支架长度 N50 = 12.2 Mb,L50 = 13。共预测了 24,946 个编码蛋白质的基因,BUSCO 得分的完整性很高(基因组和蛋白质组的 BUSCO 得分分别为 98.8% 和 94.7%)。该基因组为了解燕尾蝶生物学特性和保护燕尾蝶提供了重要资源。
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引用次数: 0
Chromosomal-level genome assembly of the long-spined sea urchin Diadema setosum (Leske, 1778). 长刺海胆 Diadema setosum (Leske, 1778) 染色体级基因组组装。
Pub Date : 2024-04-25 eCollection Date: 2024-01-01 DOI: 10.46471/gigabyte.121

The long-spined sea urchin Diadema setosum is an algal and coral feeder widely distributed in the Indo-Pacific that can cause severe bioerosion on the reef community. However, the lack of genomic information has hindered the study of its ecology and evolution. Here, we report the chromosomal-level genome (885.8 Mb) of the long-spined sea urchin D. setosum using a combination of PacBio long-read sequencing and Omni-C scaffolding technology. The assembled genome contains a scaffold N50 length of 38.3 Mb, 98.1% of complete BUSCO (Geno, metazoa_odb10) genes (the single copy score is 97.8% and the duplication score is 0.3%), and 98.6% of the sequences are anchored to 22 pseudo-molecules/chromosomes. A total of 27,478 gene models have were annotated, reaching a total of 28,414 transcripts, including 5,384 tRNA and 23,030 protein-coding genes. The high-quality genome of D. setosum presented here is a valuable resource for the ecological and evolutionary studies of this coral reef-associated sea urchin.

长刺海胆(Diadema setosum)是一种广泛分布于印度洋-太平洋地区的藻类和珊瑚喂食者,可对珊瑚礁群落造成严重的生物侵蚀。然而,基因组信息的缺乏阻碍了对其生态学和进化的研究。在这里,我们利用 PacBio 长线程测序技术和 Omni-C 支架技术,报告了长棘海胆 D. setosum 的染色体级基因组(885.8 Mb)。组装的基因组包含 38.3 Mb 的支架 N50 长度,98.1% 的完整 BUSCO(Geno,metazoa_odb10)基因(单拷贝得分 97.8%,重复得分 0.3%),98.6% 的序列锚定在 22 个伪分子/染色体上。共注释了 27,478 个基因模型,共有 28,414 个转录本,包括 5,384 个 tRNA 和 23,030 个编码蛋白质的基因。这里展示的高质量 D. setosum 基因组是研究这种与珊瑚礁相关的海胆的生态和进化的宝贵资源。
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引用次数: 0
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GigaByte (Hong Kong, China)
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