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Polyploid genome assembly of Cardamine chenopodiifolia.
Pub Date : 2024-12-23 eCollection Date: 2024-01-01 DOI: 10.46471/gigabyte.145
Aurélia Emonet, Mohamed Awad, Nikita Tikhomirov, Maria Vasilarou, Miguel Pérez-Antón, Xiangchao Gan, Polina Yu Novikova, Angela Hay

Cardamine chenopodiifolia is an amphicarpic plant in the Brassicaceae family. Plants develop two fruit types, one above and another below ground. This rare trait is associated with octoploidy in C. chenopodiifolia. The absence of genomic data for C. chenopodiifolia currently limits our understanding of the development and evolution of amphicarpy. Here, we produced a chromosome-scale assembly of the C. chenopodiifolia genome using high-fidelity long read sequencing with the Pacific Biosciences platform. We assembled 32 chromosomes and two organelle genomes with a total length of 597.2 Mb and an N50 of 18.8 Mb. Genome completeness was estimated at 99.8%. We observed structural variation among homeologous chromosomes, suggesting that C. chenopodiifolia originated via allopolyploidy, and phased the octoploid genome into four sub-genomes using orthogroup trees. This fully phased, chromosome-level genome assembly is an important resource to help investigate amphicarpy in C. chenopodiifolia and the origin of trait novelties by allopolyploidy.

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引用次数: 0
NeuroVar: an open-source tool for the visualization of gene expression and variation data for biomarkers of neurological diseases.
Pub Date : 2024-11-25 eCollection Date: 2024-01-01 DOI: 10.46471/gigabyte.143
Hiba Ben Aribi, Najla Abassi, Olaitan I Awe

The expanding availability of large-scale genomic data and the growing interest in uncovering gene-disease associations call for efficient tools to visualize and evaluate gene expression and genetic variation data. Here, we developed a comprehensive pipeline that was implemented as an interactive Shiny application and a standalone desktop application. NeuroVar is a tool for visualizing genetic variation (single nucleotide polymorphisms and insertions/deletions) and gene expression profiles of biomarkers of neurological diseases. Data collection involved filtering biomarkers related to multiple neurological diseases from the ClinGen database. NeuroVar provides a user-friendly graphical user interface to visualize genomic data and is freely accessible on the project's GitHub repository (https://github.com/omicscodeathon/neurovar).

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引用次数: 0
Whole-genome re-sequencing of the Baikal seal and other phocid seals for a glimpse into their genetic diversity, demographic history, and phylogeny.
Pub Date : 2024-11-20 eCollection Date: 2024-01-01 DOI: 10.46471/gigabyte.142
Marcel Nebenführ, Ulfur Arnason, Axel Janke

The Baikal seal (Pusa sibirica) is a freshwater seal endemic to Lake Baikal, where it became landlocked million years ago. It is an abundant species of least concern despite the limited habitat. Research on its genetic diversity had only been done on mitochondrial genes, restriction fragment analyses, and microsatellites, before its reference genome was published. Here, we report the genome sequences of six Baikal seals, and one individual of the Caspian, ringed, and harbor seal, re-sequenced from Illumina paired-end short read data. Heterozygosity calculations of the six newly sequenced individuals are similar to previously reported genomes. Also, the novel genome data of the other species contributed to a more complete phocid seal phylogeny based on whole-genome data. Despite the isolation of the land-locked Baikal seal, its genetic diversity is comparable to that of other seal species. Future targeted genome studies need to explore the genomic diversity throughout their distribution.

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引用次数: 0
Chromosome-level genome assembly and annotation of the crested gecko, Correlophus ciliatus, a lizard incapable of tail regeneration. 冠壁虎(Correlophus ciliatus)染色体水平的基因组组装和注释,冠壁虎是一种无法进行尾部再生的蜥蜴。
Pub Date : 2024-11-06 eCollection Date: 2024-01-01 DOI: 10.46471/gigabyte.140
Marc A Gumangan, Zheyu Pan, Thomas P Lozito

The vast majority of gecko species are capable of tail regeneration, but singular geckos of Correlophus, Uroplatus, and Nephrurus genera are unable to regrow lost tails. Of these non-regenerative geckos, the crested gecko (Correlophus ciliatus) is distinguished by ready availability, ease of care, high productivity, and hybridization potential. These features make C. ciliatus particularly suited as a model for studying the genetic, molecular, and cellular mechanisms underlying loss of tail regeneration capabilities. We report a contiguous genome of C. ciliatus with a total size of 1.65 Gb, 152 scaffolds, L50 of 6, and N50 of 109 Mb. Repetitive content consists of 40.41% of the genome, and a total of 30,780 genes were annotated. Our assembly of the crested gecko genome provides a valuable resource for future comparative genomic studies between non-regenerative and regenerative geckos and other squamate reptiles.

Findings: We report genome sequencing, assembly, and annotation for the crested gecko, Correlophus ciliatus.

绝大多数壁虎物种都具有尾巴再生能力,但Correlophus属、Uroplatus属和Nephrurus属的奇特壁虎无法再生失去的尾巴。在这些不具备再生能力的壁虎中,冠壁虎(Correlophus ciliatus)的特点是随时可用、易于照料、产量高且具有杂交潜力。这些特点使冠壁虎特别适合作为研究尾部再生能力丧失的遗传、分子和细胞机制的模型。我们报告的纤毛虫连续基因组总大小为 1.65 Gb,有 152 个支架,L50 为 6,N50 为 109 Mb。重复内容占基因组的 40.41%,共注释了 30,780 个基因。我们对冠壁虎基因组的组装为未来非再生壁虎和再生壁虎以及其他有鳞类爬行动物的基因组比较研究提供了宝贵的资源:我们报告了冠壁虎(Correlophus ciliatus)的基因组测序、组装和注释。
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引用次数: 0
TSTA: thread and SIMD-based trapezoidal pairwise/multiple sequence-alignment method. TSTA:基于线程和 SIMD 的梯形配对/多序列比对方法。
Pub Date : 2024-11-05 eCollection Date: 2024-01-01 DOI: 10.46471/gigabyte.141
Peiyu Zong, Wenpeng Deng, Jian Liu, Jue Ruan

The rapid advancements in sequencing length necessitate the adoption of increasingly efficient sequence alignment algorithms. The Needleman-Wunsch method introduces the foundational dynamic-programming matrix calculation for global alignment, which evaluates the overall alignment of sequences. However, this method is known to be highly time-consuming. The proposed TSTA algorithm leverages both vector-level and thread-level parallelism to accelerate pairwise and multiple sequence alignments.

Availability and implementation: Source codes are available at https://github.com/bxskdh/TSTA.

随着测序长度的快速发展,有必要采用越来越高效的序列比对算法。Needleman-Wunsch 方法引入了用于全局比对的基础动态编程矩阵计算,该方法对序列的整体比对进行评估。然而,众所周知这种方法非常耗时。所提出的 TSTA 算法利用向量级和线程级并行性来加速成对和多序列比对:源代码可从 https://github.com/bxskdh/TSTA 获取。
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引用次数: 0
SMARTER-database: a tool to integrate SNP array datasets for sheep and goat breeds. SMARTER 数据库:整合绵羊和山羊品种 SNP 阵列数据集的工具。
Pub Date : 2024-10-21 eCollection Date: 2024-01-01 DOI: 10.46471/gigabyte.139
Paolo Cozzi, Arianna Manunza, Johanna Ramirez-Diaz, Valentina Tsartsianidou, Konstantinos Gkagkavouzis, Pablo Peraza, Anna Maria Johansson, Juan José Arranz, Fernando Freire, Szilvia Kusza, Filippo Biscarini, Lucy Peters, Gwenola Tosser-Klopp, Gabriel Ciappesoni, Alexandros Triantafyllidis, Rachel Rupp, Bertrand Servin, Alessandra Stella

Underutilized sheep and goat breeds can adapt to challenging environments due to their genetics. Integrating publicly available genomic datasets with new data will facilitate genetic diversity analyses; however, this process is complicated by data discrepancies, such as outdated assembly versions or different data formats. Here, we present the SMARTER-database, a collection of tools and scripts to standardize genomic data and metadata, mainly from SNP chip arrays on global small ruminant populations, with a focus on reproducibility. SMARTER-database harmonizes genotypes for about 12,000 sheep and 6,000 goats to a uniform coding and assembly version. Users can access the genotype data via File Transfer Protocol and interact with the metadata through a web interface or using their custom scripts, enabling efficient filtering and selection of samples. These tools will empower researchers to focus on the crucial aspects of adaptation and contribute to livestock sustainability, leveraging the rich dataset provided by the SMARTER-database.

Availability and implementation: The code is available as open-source software under the MIT license at https://github.com/cnr-ibba/SMARTER-database.

未得到充分利用的绵羊和山羊品种因其基因而能够适应具有挑战性的环境。将公开的基因组数据集与新数据整合起来将有助于遗传多样性分析;然而,数据差异(如过期的组装版本或不同的数据格式)使这一过程变得复杂。在此,我们介绍 SMARTER 数据库,它是一个工具和脚本集合,用于标准化基因组数据和元数据,主要来自全球小反刍动物种群的 SNP 芯片阵列,重点在于可重复性。SMARTER 数据库将大约 12,000 只绵羊和 6,000 只山羊的基因型统一为统一编码和组装版本。用户可以通过文件传输协议访问基因型数据,并通过网络接口或使用自定义脚本与元数据进行交互,从而有效地筛选和选择样本。这些工具将使研究人员能够利用 SMARTER 数据库提供的丰富数据集,专注于适应性的关键方面,为畜牧业的可持续发展做出贡献:代码可在 https://github.com/cnr-ibba/SMARTER-database 网站上以 MIT 许可的开源软件形式获取。
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引用次数: 0
Building a community-driven bioinformatics platform to facilitate Cannabis sativa multi-omics research. 建立社区驱动的生物信息学平台,促进大麻多组学研究。
Pub Date : 2024-10-18 eCollection Date: 2024-01-01 DOI: 10.46471/gigabyte.137
Locedie Mansueto, Tobias Kretzschmar, Ramil Mauleon, Graham J King

Global changes in cannabis legislation after decades of stringent regulation and heightened demand for its industrial and medicinal applications have spurred recent genetic and genomics research. An international research community emerged and identified the need for a web portal to host cannabis-specific datasets that seamlessly integrates multiple data sources and serves omics-type analyses, fostering information sharing. The Tripal platform was used to host public genome assemblies, gene annotations, quantitative trait loci and genetic maps, gene and protein expression data, metabolic profiles and their sample attributes. Single nucleotide polymorphisms were called using public resequencing datasets on three genomes. Additional applications, such as SNP-Seek and MapManJS, were embedded into Tripal. A multi-omics data integration web-service Application Programming Interface (API), developed on top of existing Tripal modules, returns generic tables of samples, properties and values. Use cases demonstrate the API's utility for various omics analyses, enabling researchers to perform multi-omics analyses efficiently.

Availability and implementation: The web portal can be accessed at www.icgrc.info.

经过数十年的严格监管,全球大麻立法发生了变化,对其工业和医疗应用的需求增加,这刺激了近期的遗传学和基因组学研究。一个国际研究团体应运而生,并确定需要一个门户网站来托管大麻特定数据集,该门户网站可无缝集成多个数据源,并提供全局分析,促进信息共享。Tripal 平台用于托管公共基因组组装、基因注释、定量性状位点和遗传图谱、基因和蛋白质表达数据、代谢图谱及其样本属性。利用三个基因组的公共重测序数据集对单核苷酸多态性进行了调用。此外,Tripal 还嵌入了 SNP-Seek 和 MapManJS 等其他应用程序。在现有 Tripal 模块基础上开发的多组学数据集成网络服务应用编程接口(API)可返回样本、属性和值的通用表格。使用案例展示了该应用编程接口在各种omics分析中的实用性,使研究人员能够高效地进行多组学分析:门户网站:www.icgrc.info。
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引用次数: 0
PhysiMeSS - a new physiCell addon for extracellular matrix modelling. PhysiMeSS - 用于细胞外基质建模的全新 physiCell 附加组件。
Pub Date : 2024-10-16 eCollection Date: 2024-01-01 DOI: 10.46471/gigabyte.136
Vincent Noël, Marco Ruscone, Robyn Shuttleworth, Cicely K Macnamara

The extracellular matrix, composed of macromolecules like collagen fibres, provides structural support to cells and acts as a barrier that metastatic cells degrade to spread beyond the primary tumour. While agent-based frameworks, such as PhysiCell, can simulate the spatial dynamics of tumour evolution, they only implement cells as circles (2D) or spheres (3D). To model the extracellular matrix as a network of fibres, we require a new type of agent represented by line segments (2D) or cylinders (3D). Here, we present PhysiMeSS, an addon of PhysiCell, introducing a new agent type to describe fibres and their physical interactions with cells and other fibres. PhysiMeSS implementation is available at https://github.com/PhysiMeSS/PhysiMeSS and in the official PhysiCell repository. We provide examples describing the possibilities of this framework. This tool may help tackle important biological questions, such as diseases linked to dysregulation of the extracellular matrix or the processes leading to cancer metastasis.

细胞外基质由胶原纤维等大分子组成,为细胞提供结构支撑,并作为转移细胞降解后向原发肿瘤以外扩散的屏障。虽然基于代理的框架(如 PhysiCell)可以模拟肿瘤演变的空间动态,但它们只能将细胞模拟为圆形(2D)或球形(3D)。要将细胞外基质建模为纤维网络,我们需要一种以线段(二维)或圆柱体(三维)为代表的新型代理。在此,我们介绍 PhysiCell 的附加组件 PhysiMeSS,它引入了一种新的代理类型来描述纤维及其与细胞和其他纤维的物理交互。PhysiMeSS 的实现可从 https://github.com/PhysiMeSS/PhysiMeSS 和官方 PhysiCell 存储库中获取。我们将举例说明这一框架的可能性。该工具可帮助解决一些重要的生物学问题,如与细胞外基质失调有关的疾病或导致癌症转移的过程。
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引用次数: 0
NucBalancer: streamlining barcode sequence selection for optimal sample pooling for sequencing. NucBalancer:简化条形码序列选择,优化测序样本池。
Pub Date : 2024-10-11 eCollection Date: 2024-01-01 DOI: 10.46471/gigabyte.138
Saurabh Gupta, Ankur Sharma

Recent advancements in next-generation sequencing (NGS) technologies have brought to the forefront the necessity for versatile, cost-effective tools capable of adapting to a rapidly evolving landscape. The emergence of numerous new sequencing platforms, each with unique sample preparation and sequencing requirements, underscores the importance of efficient barcode balancing for successful pooling and accurate demultiplexing of samples. Recently launched new sequencing systems claiming better affordability comparable to more established platforms further exemplifies these challenges, especially when libraries originally prepared for one platform need conversion to another. In response to this dynamic environment, we introduce NucBalancer, a Shiny app developed for the optimal selection of barcode sequences. While initially tailored to meet the nucleotide, composition challenges specific to G400 and T7 series sequencers, NucBalancer's utility significantly broadens to accommodate the varied demands of these new sequencing technologies. Its application is particularly crucial in single-cell genomics, enabling the adaptation of libraries, such as those prepared for 10x technology, to various sequencers including G400 and T7 series sequencers. NucBalancer efficiently balances nucleotide composition and sample concentrations, reducing biases and enhancing the reliability of NGS data across platforms. Its adaptability makes it invaluable for addressing sequencing challenges, ensuring effective barcode balancing for sample pooling on any platform.

Availability and implementation: NucBalancer is implemented in R and is available at https://github.com/ersgupta/NucBalancer. Additionally, a shiny interface is available at https://ersgupta.shinyapps.io/NucBalancer/.

下一代测序(NGS)技术的最新进展凸显了多功能、高性价比工具的必要性,这些工具必须能够适应快速发展的环境。大量新测序平台的出现(每种平台都有独特的样品制备和测序要求)凸显了高效条形码平衡对于成功汇集样品和准确解复用样品的重要性。最近推出的新测序系统声称其价格可与更成熟的平台相媲美,这进一步体现了这些挑战,尤其是当原本为一个平台制备的文库需要转换到另一个平台时。为了应对这种动态环境,我们推出了 NucBalancer,这是一款为优化条形码序列选择而开发的 Shiny 应用程序。虽然 NucBalancer 最初是为应对 G400 和 T7 系列测序仪特有的核苷酸组成挑战而量身定制的,但它的用途已大大扩展,以适应这些新测序技术的不同需求。NucBalancer 在单细胞基因组学中的应用尤为重要,它能使文库(如为 10x 技术制备的文库)适用于各种测序仪,包括 G400 和 T7 系列测序仪。NucBalancer 能有效平衡核苷酸组成和样本浓度,减少偏差,提高跨平台 NGS 数据的可靠性。NucBalancer 的适应性使其在应对测序挑战时非常有价值,可确保在任何平台上对样本池进行有效的条形码平衡:NucBalancer 采用 R 语言实现,可在 https://github.com/ersgupta/NucBalancer 上获取。此外,您还可以在 https://ersgupta.shinyapps.io/NucBalancer/ 上找到一个闪亮的界面。
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引用次数: 0
CannSeek? Yes we Can! An open-source single nucleotide polymorphism database and analysis portal for Cannabis sativa. CannSeek?是的,我们可以!针对大麻的开源单核苷酸多态性数据库和分析门户网站。
Pub Date : 2024-10-08 eCollection Date: 2024-01-01 DOI: 10.46471/gigabyte.135
Locedie Mansueto, Kenneth L McNally, Tobias Kretzschmar, Ramil Mauleon

A growing interest in Cannabis sativa uses for food, fiber, and medicine, and recent changes in regulations have spurred numerous genomic studies of this once-prohibited plant. Cannabis research uses Next Generation Sequencing technologies for genomics and transcriptomics. While other crops have genome portals enabling access and analysis of numerous genotyping data from diverse accessions, leading to the discovery of alleles for important traits, this is absent for cannabis. The CannSeek web portal aims to address this gap. Single nucleotide polymorphism datasets were generated by identifying genome variants from public resequencing data and genome assemblies. Results and accompanying trait data are hosted in the CannSeek web application, built using the Rice SNP-Seek infrastructure with improvements to allow multiple reference genomes and provide a web-service Application Programming Interface. The tools built into the portal allow phylogenetic analyses, varietal grouping and identifications, and favorable haplotype discovery for cannabis accessions using public sequencing data.

Availability and implementation: The CannSeek portal is available at https://icgrc.info/cannseek, https://icgrc.info/genotype_viewer.

人们对大麻用于食品、纤维和医药的兴趣日益浓厚,加上最近法规的变化,促使人们对这种曾经被禁止的植物进行了大量的基因组研究。大麻研究利用新一代测序技术进行基因组学和转录组学研究。其他作物的基因组门户网站可以访问和分析来自不同品种的大量基因分型数据,从而发现重要性状的等位基因,但大麻却没有这样的门户网站。CannSeek 门户网站旨在填补这一空白。单核苷酸多态性数据集是通过识别公共重测序数据和基因组组装中的基因组变异而生成的。结果和伴随的性状数据托管在 CannSeek 网络应用程序中,该程序使用水稻 SNP-Seek 基础设施构建,并进行了改进,允许使用多个参考基因组,并提供了网络服务应用编程接口。该门户网站内置的工具可利用公共测序数据对大麻品种进行系统发育分析、品种分组和鉴定,以及发现有利的单倍型:CannSeek 门户网站的网址是:https://icgrc.info/cannseek, https://icgrc.info/genotype_viewer。
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引用次数: 0
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