software

软件
  • 文章类型: Journal Article
    人乳头瘤病毒(HPV)是宫颈鳞状细胞癌发展的主要危险因素,和E6癌蛋白和E7癌蛋白是病毒基因组及其致癌潜力的重要组成部分。已知HPV16的不同病毒变体具有不同的病理和对肿瘤发展的影响,尽管对南美变体的研究很少。
    因此,本研究旨在分析美国国家生物技术信息中心(NCBI)数据库中南美洲20种全基因组变异中HPV16的基因组多样性.
    我们进行了一项描述性研究,以表征HPV16变体中E6和E7基因的多态性区域,使用软件进行基因组数据和单核苷酸多态性(SNP)分析等进行系统发育分析。
    分析的变异包括与癌症相关的六个SNP(A131G,G145T,C335T,T350G,C712A,和T732C)和显著变异(798个核苷酸取代)。尽管如此,变异体的遗传多样性较低。鉴定出18种意义不明确的变体(VUS)。其中10个在编码E6区中,8个在编码E7区中。由于其在子宫颈癌中的病理学,所以谱系D变体的患病率令人担忧,并且需要对其在人群中的患病率进行更多的研究和流行病学警惕。
    本研究中获得的数据可能有助于对HPV16的南美变体及其致病性的未来研究,以及治疗方法的发展。
    UNASSIGNED: Human papillomavirus (HPV) is the main risk factor for the development of squamous cell cervical cancer, and E6 oncoprotein and E7 oncoprotein are important components of the viral genome and its oncogenic potential. It is known that different viral variants of HPV16 have different pathology and impact on the development of neoplasia, although few studies have been performed on South American variants.
    UNASSIGNED: Therefore, the present study aimed to analyze in silico the genomic diversity of HPV16 in 20 complete genome variants of South America in the National Center for Biotechnology Information (NCBI) database.
    UNASSIGNED: We performed a descriptive study to characterize the polymorphic regions of the E6 and E7 genes in HPV16 variants, using software for genomic data and single nucleotide polymorphism (SNP) analysis and others for phylogenetic analysis.
    UNASSIGNED: The variants analyzed included six SNPs linked to cancer (A131G, G145T, C335T, T350G, C712A, and T732C) and significant variation (798 nucleotide substitutions). Despite this, the variants showed low genetic diversity. Eighteen variants of unclear significance (VUS) were identified, 10 of which were in the coding E6 regions and 8 in the coding E7 regions. The prevalence of lineage D variants is of concern due to their pathology in cervical cancer and requires more research and epidemiological vigilance regarding their prevalence in the population.
    UNASSIGNED: The data obtained in this study may contribute to future research on South American variants of HPV16, their pathogenicity, and the development of treatments.
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  • 文章类型: Journal Article
    生命体征是评价患者健康状况的重要指标。信道状态信息(CSI)可以以非接触方式感测由心肺活动引起的胸壁位移。由于杂波的影响,直流分量,和呼吸谐波,很难检测到可靠的心跳信号。为了解决这个问题,本文提出了一种健壮和新颖的方法,用于使用软件定义无线电(SDR)同时提取呼吸和心跳信号。具体来说,对信号进行建模和分析,提出基于奇异值分解(SVD)的杂波抑制方法来增强生命体征信号。通过圆拟合方法估计和补偿DC。然后,通过改进的变分模态分解(VMD)获得心跳信号和呼吸信号。实验结果表明,该方法能够准确地从滤波信号中分离出呼吸信号和心跳信号。Bland-Altman分析表明,所提出的系统与医疗传感器具有良好的一致性。此外,所提出的系统可以准确测量0.5m内的心率变异性(HRV)。总之,我们的系统可以用作传统接触式医疗传感器的首选非接触式替代品,它可以提供先进的以患者为中心的医疗保健解决方案。
    Vital signs are important indicators to evaluate the health status of patients. Channel state information (CSI) can sense the displacement of the chest wall caused by cardiorespiratory activity in a non-contact manner. Due to the influence of clutter, DC components, and respiratory harmonics, it is difficult to detect reliable heartbeat signals. To address this problem, this paper proposes a robust and novel method for simultaneously extracting breath and heartbeat signals using software defined radios (SDR). Specifically, we model and analyze the signal and propose singular value decomposition (SVD)-based clutter suppression method to enhance the vital sign signals. The DC is estimated and compensated by the circle fitting method. Then, the heartbeat signal and respiratory signal are obtained by the modified variational modal decomposition (VMD). The experimental results demonstrate that the proposed method can accurately separate the respiratory signal and the heartbeat signal from the filtered signal. The Bland-Altman analysis shows that the proposed system is in good agreement with the medical sensors. In addition, the proposed system can accurately measure the heart rate variability (HRV) within 0.5m. In summary, our system can be used as a preferred contactless alternative to traditional contact medical sensors, which can provide advanced patient-centered healthcare solutions.
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  • 文章类型: Journal Article
    microRNAs(miRNAs)在多种生物过程中起着至关重要的作用。通过检测它们的亚细胞定位,对于更深入地了解它们的功能和机制至关重要。用于确定miRNA亚细胞定位的传统方法是昂贵的。计算方法是快速预测miRNA亚细胞定位的替代方法。尽管在这方面已经提出了几种计算方法,这些方法中miRNAs的不完整表示留下了改进的空间。在这项研究中,一种预测miRNA亚细胞定位的新计算方法,名为PMiSLocMF,已开发。由于许多miRNA具有多个亚细胞定位,该方法是一种多标签分类器。miRNA的几个性质,如miRNA序列,miRNA功能相似性,miRNA-疾病,miRNA-药物,和miRNA-mRNA关联被用于产生信息性miRNA特征。为此,采用强大的算法[node2vec和图形注意自动编码器(GATE)]和一个新设计的方案来处理上述属性,产生五种特征类型。所有功能都被注入自我关注和完全连接的图层以进行预测。交叉验证结果表明,PMiSLocMF的准确性高于0.83,受试者工作特征曲线下平均面积(AUC)和精确召回曲线下面积(AUPR)分别超过0.90和0.77。这种性能优于基于相同数据集的所有先前方法。进一步的测试证明,使用所有特征类型可以提高PMisLocMF的性能,和GATE和自我注意层可以帮助提高性能。最后,我们深入分析了miRNA与疾病关联的影响,毒品,和在PMiSLocMF上的mRNA。数据集和代码可在https://github.com/Gu20201017/PMiSLocMF获得。
    The microRNAs (miRNAs) play crucial roles in several biological processes. It is essential for a deeper insight into their functions and mechanisms by detecting their subcellular localizations. The traditional methods for determining miRNAs subcellular localizations are expensive. The computational methods are alternative ways to quickly predict miRNAs subcellular localizations. Although several computational methods have been proposed in this regard, the incomplete representations of miRNAs in these methods left the room for improvement. In this study, a novel computational method for predicting miRNA subcellular localizations, named PMiSLocMF, was developed. As lots of miRNAs have multiple subcellular localizations, this method was a multi-label classifier. Several properties of miRNA, such as miRNA sequences, miRNA functional similarity, miRNA-disease, miRNA-drug, and miRNA-mRNA associations were adopted for generating informative miRNA features. To this end, powerful algorithms [node2vec and graph attention auto-encoder (GATE)] and one newly designed scheme were adopted to process above properties, producing five feature types. All features were poured into self-attention and fully connected layers to make predictions. The cross-validation results indicated the high performance of PMiSLocMF with accuracy higher than 0.83, average area under the receiver operating characteristic curve (AUC) and area under the precision-recall curve (AUPR) exceeding 0.90 and 0.77, respectively. Such performance was better than all previous methods based on the same dataset. Further tests proved that using all feature types can improve the performance of PMiSLocMF, and GATE and self-attention layer can help enhance the performance. Finally, we deeply analyzed the influence of miRNA associations with diseases, drugs, and mRNAs on PMiSLocMF. The dataset and codes are available at https://github.com/Gu20201017/PMiSLocMF.
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  • 文章类型: Journal Article
    对进化速率和模式的研究是理解自然选择如何塑造当前和过去表型多样性的关键。系统发育比较方法提供了一系列解决方案来完成这项具有挑战性的任务,并有助于在大多数情况下全面了解表型变异。然而,复杂,头骨和大脑等三维结构服务于不同的目标,这些表型的不同部分通常履行不同的功能,这使得很难理解哪些部分真正被自然选择所招募。在最近的过去,我们开发了易于直接在三维形状上绘制进化率和模式的工具,根据它们的大小和方向。这里,我们介绍这些工具的进一步发展,现在可以恢复具有完整生物学现实主义的速率和模式的映射。这些工具被压缩在一个新的R软件包中。
    The study of evolutionary rates and patterns is the key to understand how natural selection shaped the current and past diversity of phenotypes. Phylogenetic comparative methods offer an array of solutions to undertake this challenging task, and help understanding phenotypic variation in full in most circumstances. However, complex, three-dimensional structures such as the skull and the brain serve disparate goals, and different portions of these phenotypes often fulfil different functions, making it hard to understand which parts truly were recruited by natural selection. In the recent past, we developed tools apt to chart evolutionary rate and patterns directly on three-dimensional shapes, according to their magnitude and direction. Here, we present further developments of these tools, which now allow to restitute the mapping of rates and patterns with full biological realism. The tools are condensed in a new R software package.
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  • 文章类型: Journal Article
    我们设计用于临床数据采集和记录研究的原型系统是一种新颖的电子数据捕获(EDC)软件,用于临床研究中简单而轻便的数据捕获。现有的软件工具要么昂贵,要么功能非常有限。为了克服这些缺点,我们设计了一个EDC软件和一个移动客户端。我们的目标是使其易于设置,可修改,可扩展,从而促进研究。我们使用模块化方法在R中编写了软件,并实现了现有的数据标准以及元数据驱动接口和数据库结构。原型是一个适应性强的开源软件,它可以在本地或云中安装,而无需高级IT知识。添加了用于移动使用和台式计算机的移动Web界面和渐进式Web应用程序。我们展示了软件的能力,通过展示四项临床研究,超过1600名参与者和每个参与者679个变量。我们描述了服务器安装的简单部署方法,并指出了更多的用例。该软件可在MIT开源许可下获得。总而言之,该软件是通用的,易于部署,高度可修改,并且对于临床研究具有极大的可扩展性。作为一个开源的R软件,它是可访问的,对未来社区驱动的发展和改进持开放态度。
    Our prototype system designed for clinical data acquisition and recording of studies is a novel electronic data capture (EDC) software for simple and lightweight data capture in clinical research. Existing software tools are either costly or suffer from very limited features. To overcome these shortcomings, we designed an EDC software together with a mobile client. We aimed at making it easy to set-up, modifiable, scalable and thereby facilitating research. We wrote the software in R using a modular approach and implemented existing data standards along with a meta data driven interface and database structure. The prototype is an adaptable open-source software, which can be installed locally or in the cloud without advanced IT-knowledge. A mobile web interface and progressive web app for mobile use and desktop computers is added. We show the software\'s capability, by demonstrating four clinical studies with over 1600 participants and 679 variables per participant. We delineate a simple deployment approach for a server-installation and indicate further use-cases. The software is available under the MIT open-source license. Conclusively the software is versatile, easily deployable, highly modifiable, and extremely scalable for clinical studies. As an open-source R-software it is accessible, open to community-driven development and improvement in the future.
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  • 文章类型: Journal Article
    scRNA-seq数据的可用性和规模的快速增长需要可扩展的综合分析方法。尽管已经开发了许多数据集成方法,在综合分析中,很少关注理解不同细胞群体之间生物条件的异质性效应。我们提出的可扩展方法,scParser,模拟来自生物条件的异质效应,揭示了基因表达促成表型的关键机制。值得注意的是,扩展的scParser指出了细胞亚群中有助于疾病发病机理的生物过程。与最先进的方法相比,scParser在细胞聚类中实现了良好的性能,并且具有广泛而多样的适用性。
    The rapid rise in the availability and scale of scRNA-seq data needs scalable methods for integrative analysis. Though many methods for data integration have been developed, few focus on understanding the heterogeneous effects of biological conditions across different cell populations in integrative analysis. Our proposed scalable approach, scParser, models the heterogeneous effects from biological conditions, which unveils the key mechanisms by which gene expression contributes to phenotypes. Notably, the extended scParser pinpoints biological processes in cell subpopulations that contribute to disease pathogenesis. scParser achieves favorable performance in cell clustering compared to state-of-the-art methods and has a broad and diverse applicability.
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  • 文章类型: Journal Article
    这项研究的目的是评估功能,以及主动IVF实验室环境中新型自动化软件引导冷冻存储系统的可用性。研究设备(ID)安装在3个IVF实验室(地点:α,β,和γ)。总共15名胚胎学家接受了使用ID的培训。使用ID处理包含镜像的实时患者数据的模拟患者标本。每分钟记录温度读数。成功的鉴定,storage,并通过ID对模拟患者标本的检索进行了评估。为了评估LN2压力生成器,记录了工作流中断的使用频率和事件.使用学生t检验来确定统计学显著性。该ID总共使用了164天。在此期间,由ID处理329个模拟患者卵和胚胎队列。主动使用期间的平均±SD温度为:α,--176.57±1.83℃;β,--178.21±2.75°C;γ,-178.98±1.74,差异无统计学意义。记录的最高温度为:α,-165.14°C;β,-157.41°C;γ,--164.45°C。在409个标本容器上进行了总共1064次自动化交易。在1501个卵子和胚胎上管理数据。ID没有丢失或放错任何标本数据或血管,并且没有模拟样品暴露于有害的(>-150°C)温度偏移。在总共99天的25次LN2压力生成器使用中,有1次由于缺乏LN2压力而中断了工作流程。与当前基于手动的冷冻存储系统相比,该ID具有优势,包括射频识别(RFID)跟踪,手动任务的自动化,和软件指南,以确保准确的样本存储和检索。这项研究的结果表明,ID可以整合到活跃的IVF实验室中。
    The objective of this study was to evaluate the function, and usability of a novel automated software-guided cryostorage system in an active IVF laboratory setting. The investigational device (ID) was installed at 3 IVF laboratories (sites: α, β, and γ). A total of 15 embryologists were trained to use the ID. Mock patient specimens containing mirrored live patient data were handled using the ID. Temperature readings were recorded every minute. Successful identification, storage, and retrieval of mock patient specimens by the ID were evaluated. To assess an LN2 pressure builder, the frequency of use and events of workflow interruption were logged. Student\'s t-test was used to determine statistical significance. The ID was in active use for 164 days total. During this time, 329 mock patient egg and embryo cohorts were handled by the ID. The mean ± SD temperatures during active use were: α, - 176.57 ± 1.83 °C; β, - 178.21 ± 2.75 °C; γ, - 178.98 ± 1.74 and did not differ significantly. The highest recorded temperatures were: α, - 165.14 °C; β, - 157.41 °C; γ, - 164.45 °C. A total of 1064 automation transactions on 409 specimen vessels were performed. Data was managed on 1501 eggs and embryos. The ID did not lose or misplace any specimen data or vessels, and no mock specimen was exposed to a detrimental (> - 150 °C) temperature excursion. Over the 25 LN2 pressure builder usages during 99 total days, there was 1 occurrence where usage interrupted workflow due to a lack of LN2 pressure. The ID has advantages over the current manual-based cryostorage systems, including radio frequency identification (RFID) tracking, automation of manual tasks, and software guidance to ensure accurate specimen storage and retrieval. The results of this study indicate that the ID can be integrated into active IVF laboratories.
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  • 文章类型: Journal Article
    编码蛋白质的环状RNA(circRNAs)是新鉴定的RNA分子,其特征在于与翻译核糖体的强烈相互作用。新兴的证据已经暗示了这些非规范RNA的生理和病理意义,然而,他们中的一大群人仍然身份不明。由于手头工具有限,我们开发了CircProPlus,用于从头检测翻译的circRNAs的自动计算管道。与以前建立的CircPro相比,CircProPlus调整了整体工作流程,并集成了更强大的实现,以实现更轻松的可访问性,更高的灵活性和生产力。在目前的研究中,我们测试了CircProPlus在使用不同的CircRNA检测工具时的性能(即,CIRI2,CirComPara2)在评估circRNAs的编码能力中。结果表明,CirComPara2是一种最先进的算法,在测试从不同RNA文库和物种收集的真实数据时,与CircProPlus结合使用时,始终优于CIRI2,这突出了它在具有蛋白质编码潜力的circRNAs数据挖掘中的潜力。
    Protein-encoding circular RNAs (circRNAs) are newly identified RNA molecules characterized by intense interaction with translating ribosome. Emerging evidence has implicated physiological and pathological significance of these non-canonical RNAs, yet a large body of them remains unidentified. Due to limited tools at hand, we developed CircProPlus, an automated computational pipeline for de novo detection of translated circRNAs. In comparison to previously established CircPro, CircProPlus adjusts the overall workflow and integrates more robust implements for achieving easier accessibility, higher flexibility and productivity. In present study, we tested the performance of CircProPlus when using different circRNA-detecting implements (i.e., CIRI2, CirComPara2) in the evaluation of coding ability of circRNAs. Results showed that CirComPara2, a state-of-the-art algorithm, consistently outperformed CIRI2 when coupled with CircProPlus in testing real data collected from different RNA libraries and species, which highlighted its potency in data mining of circRNAs with protein-coding potential.
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  • 文章类型: Journal Article
    Objective.心血管疾病是全球死亡的主要原因,心电图(ECG)对于诊断它们至关重要。传统上,ECG以打印格式存储。然而,这些打印输出,即使被扫描,与需要时间序列数据的高级ECG诊断软件不兼容。数字化ECG图像对于在ECG诊断中训练机器学习模型至关重要,利用几十年来收集的广泛的全球档案。用于图像处理的深度学习模型在这方面很有前途,尽管缺乏具有参考时间序列数据的临床ECG档案具有挑战性。使用现实生成数据模型的数据增强技术提供了解决方案。方法。我们引入ECG-Image-Kit,一个开源工具箱,用于从时间序列数据中生成具有真实伪影的合成多导联ECG图像,旨在自动将扫描的ECG图像转换为ECG数据点。该工具从实时序列数据中合成ECG图像,应用扭曲,如文本工件,皱纹,并在标准心电图纸背景上折痕。主要结果。作为一个案例研究,我们使用ECG-Image-Kit从PhysioNetQT数据库创建了一个包含21801张ECG图像的数据集.我们在该数据集上开发并训练了传统计算机视觉和深度神经网络模型的组合,以将合成图像转换为时间序列数据进行评估。我们通过计算信噪比来评估数字化质量,并比较QRS宽度等临床参数,RR,从这个管道中恢复的QT间隔,从心电图时间序列中提取的地面实况。结果表明,这种深度学习管道准确地将纸质ECG数字化,维持临床参数,并强调了数字化的生成方法。意义。该工具箱具有广泛的应用,包括ECG图像数字化和分类的模型开发。该工具箱目前支持2024PhysioNet挑战的数据增强,重点对纸质心电图像进行数字化和分类。
    Objective.Cardiovascular diseases are a major cause of mortality globally, and electrocardiograms (ECGs) are crucial for diagnosing them. Traditionally, ECGs are stored in printed formats. However, these printouts, even when scanned, are incompatible with advanced ECG diagnosis software that require time-series data. Digitizing ECG images is vital for training machine learning models in ECG diagnosis, leveraging the extensive global archives collected over decades. Deep learning models for image processing are promising in this regard, although the lack of clinical ECG archives with reference time-series data is challenging. Data augmentation techniques using realistic generative data models provide a solution.Approach.We introduceECG-Image-Kit, an open-source toolbox for generating synthetic multi-lead ECG images with realistic artifacts from time-series data, aimed at automating the conversion of scanned ECG images to ECG data points. The tool synthesizes ECG images from real time-series data, applying distortions like text artifacts, wrinkles, and creases on a standard ECG paper background.Main results.As a case study, we used ECG-Image-Kit to create a dataset of 21 801 ECG images from the PhysioNet QT database. We developed and trained a combination of a traditional computer vision and deep neural network model on this dataset to convert synthetic images into time-series data for evaluation. We assessed digitization quality by calculating the signal-to-noise ratio and compared clinical parameters like QRS width, RR, and QT intervals recovered from this pipeline, with the ground truth extracted from ECG time-series. The results show that this deep learning pipeline accurately digitizes paper ECGs, maintaining clinical parameters, and highlights a generative approach to digitization.Significance.The toolbox has broad applications, including model development for ECG image digitization and classification. The toolbox currently supports data augmentation for the 2024 PhysioNet Challenge, focusing on digitizing and classifying paper ECG images.
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  • 文章类型: Journal Article
    低分辨率的晶体学必须从较少的实验观察中确定原子模型,这在没有模型的情况下是具有挑战性的。此外,当独立实验数据稀缺时,模型偏差更为严重。我们的方法通过将使用Phaser的精确模型片段的位置与密度修改和使用SHELXE对结果图的解释相结合来解决相位问题。从局部来看,正确的结构,密度修饰过程和立体化学约束绘制结构的其余部分,验证结果。现在在低分辨率下利用了相同的原理。线圈很重要,普遍存在的结构,但众所周知很难相位和预测。只要螺旋正确取向,正确的解决方案和不正确的解决方案都无法通过晶体学品质因数进行区分。我们结合了卷曲螺旋验证,旨在建立竞争,不相容的结构假设来探测这两个结果,并建立数据的力量来区分它们。在ARCIMBOLDO_LITE中证明了从3到4的测试用例中盘绕线圈定相和验证的效率,放置单螺旋,在ARCIMBOLDO_SHREDDER中,片段来自AlphaFold模型。低分辨率的SHELXE跟踪已得到增强,保持其当地特色,但扩展环境评估。对于非螺旋结构,验证在片段定位过程中进行了演示。它的使用以VSR1结构的解决方案为例来说明,取决于LLG优化和电子密度新功能的出现。依靠验证,我们已经将ARCIMBOLDO软件的使用扩展到低分辨率。
    Crystallography at low resolution must determine the atomic model from less experimental observations, which is challenging in the absence of a model. In addition, model bias is more severe when independent experimental data are scarce. Our methods solve the phase problem by combining the location of accurate model fragments using Phaser with density modification and interpretation of the resulting maps using SHELXE. From a partial, correct structure, the density modification process and the stereochemical constraints draw the rest of the structure, validating the result. This same principle is now exploited at low resolution. Coiled coils are important, ubiquitous structures but notoriously difficult to phase and to predict. Both correct solutions and incorrect ones are poorly discriminated by the crystallographic figures of merit as long as helices are correctly oriented. We incorporate coiled-coil verification, designed to set up competing, incompatible structural hypotheses to probe both the results and establish the power of the data to discriminate them. Efficiency of coiled-coil phasing and validation in test cases from 3 to 4 Å is demonstrated in ARCIMBOLDO_LITE, placing single helices, and in ARCIMBOLDO_SHREDDER, with fragments derived from AlphaFold models. SHELXE tracing at low resolution has been enhanced, maintaining its local character but extending the environment assessment. For non-helical structures, verification is demonstrated in the fragment location process. Its use is exemplified with the solution of the VSR1 structure at 3.5 Å, depending on LLG optimization and the emergence of new features in the electron density. Relying on verification, we have extended the use of the ARCIMBOLDO software to low resolution.
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