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Mobile Applications for the Promotion and Support of Healthy Nutrition and Physical Activity Habits: A Systematic Review, Extraction of Features and Taxonomy Proposal 促进和支持健康营养和体育活动习惯的移动应用:系统综述、特征提取和分类建议
Q3 Computer Science Pub Date : 2019-12-20 DOI: 10.2174/1874196701907010050
M. Villasana, I. Pires, Juliana Sá, N. Garcia, Eftim Zdravevski, I. Chorbev, Petre Lameski, Francisco Flórez-Revuelta
Mobile applications can be used for the monitoring of lifestyles and physical activity. It can be installed in commodity mobile devices, which are currently used by different types of people in their daily activities worlwide . This paper reviews and categorizes the mobile applications related to diet, nutrition, health, physical activity and education, showing the analysis of 73 mobile applications available on Google Play Store with the extraction of the different features. The mobile applications were analyzed in relation to each proposed category and their features, starting with the definition of the search keywords used in the Google Play Store. Each mobile application was installed on a smartphone, and validated whether it was researched in scientific studies. Finally, all mobile applications and features were categorized. These mobile applications were clustered into four groups, including diet and nutrition, health, physical activity and education. The features of mobile applications were also categorized into six groups, including diet, anthropometric parameters, social, physical activity, medical parameters and vital parameters. The most available features of the mobile applications are weight, height, age, gender, goals, calories needed calculation, diet diary, food database with calories, calories burned and calorie intake. With this review, it was concluded that most mobile applications available in the market are related to diet, and they are important for different types of people. A promising idea for future work is to evaluate the acceptance by young people of such mobile applications.
移动应用程序可用于监测生活方式和身体活动。它可以安装在商品移动设备上,目前世界各地不同类型的人在日常活动中使用这些移动设备。本文对饮食、营养、健康、体育和教育相关的移动应用进行了回顾和分类,对谷歌Play Store上的73款移动应用进行了分析,并提取了不同的特征。从谷歌Play Store中使用的搜索关键字的定义开始,分析了与每个拟议类别及其功能相关的移动应用程序。每个移动应用程序都安装在智能手机上,并验证其是否经过科学研究。最后,对所有移动应用程序和功能进行分类。这些移动应用程序被分为四组,包括饮食和营养、健康、体育活动和教育。移动应用程序的功能也被分为六组,包括饮食、人体测量参数、社交、体育活动、医疗参数和生命参数。移动应用程序最可用的功能是体重,身高,年龄,性别,目标,卡路里需要计算,饮食日记,食物数据库与卡路里,卡路里燃烧和卡路里摄入量。通过这次审查,我们得出结论,市场上的大多数移动应用程序都与饮食有关,它们对不同类型的人都很重要。未来工作的一个很有希望的想法是评估年轻人对此类移动应用程序的接受程度。
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引用次数: 11
Epigenetics, Maternal Diet and Metabolic Programming 表观遗传学,母体饮食和代谢规划
Q3 Computer Science Pub Date : 2019-12-13 DOI: 10.2174/1874196701907010045
K. Ramírez-Alarcón, Ángela Sánchez-Agurto, L. Lamperti, M. Martorell
Department of Nutrition and Dietetics, Faculty of Pharmacy, University of Concepcion, Concepcion, Chile Master Program in Human Nutrition, Faculty of Pharmacy, University of Concepcion, Concepcion, Chile School of Nutrition and Dietetics, Faculty of Health, University of Talca, Talca, Chile Department of Clinical Biochemistry and Immunology, Faculty of Pharmacy, University of Concepción, Concepción, Chile
智利康塞普西翁大学药学院营养与饮食学系康塞普西翁大学药学院人类营养硕士项目智利康塞普西翁大学营养与饮食学院塔尔卡大学卫生学院塔尔卡智利大学Concepción Concepción药学院临床生物化学与免疫学学系
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引用次数: 8
maGUI: A Graphical User Interface for Analysis and Annotation of DNA Microarray Data maGUI:一个用于DNA微阵列数据分析和注释的图形用户界面
Q3 Computer Science Pub Date : 2019-06-30 DOI: 10.2174/1875036201912010040
Dhammapal Bharne, P. Kant, V. Vindal
maGUI is a graphical user interface designed to analyze microarray data produced from experiments performed on various platforms such as Affymetrix, Agilent, Illumina, and Nimblegen and so on, automatically. It follows an integrated workflow for pre-processing and analysis of the microarray data. The user may proceed from loading of microarray data to normalization, quality check, filtering, differential gene expression, principal component analysis, clustering and classification. It also provides miscellaneous applications such as gene set test and enrichment analysis for identifying gene symbols using Bioconductor packages. Further, the user can build a co-expression network for differentially expressed genes. Tables and figures generated during the analysis can be viewed and exported to local disks. The graphical user interface is very friendly especially for the biologists to perform the most microarray data analyses and annotations without much need of learning R command line programming. maGUI is an R package which can be downloaded freely from Comprehensive R Archive Network resource. It can be installed in any R environment with version 3.0.2 or above.
maGUI是一个图形用户界面,用于自动分析在各种平台(如Affymetrix, Agilent, Illumina和Nimblegen等)上进行的实验产生的微阵列数据。它遵循一个集成的工作流预处理和分析微阵列数据。用户可以从芯片数据的加载到归一化、质量检查、过滤、差异基因表达、主成分分析、聚类和分类。它还提供各种应用程序,如基因集测试和富集分析,以识别基因符号使用Bioconductor包。此外,用户可以为差异表达的基因建立一个共表达网络。分析过程中生成的表格和图表可以查看并导出到本地硬盘。图形用户界面非常友好,特别适合生物学家执行大多数微阵列数据分析和注释,而不需要学习R命令行编程。maGUI是一个R软件包,可以从综合R档案网络资源免费下载。它可以安装在任何3.0.2或更高版本的R环境中。
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引用次数: 2
A Simple Genetic Algorithm for Optimizing Multiple Sequence Alignment on the Spread of the SARS Epidemic 非典型肺炎传播过程多序列比对优化的简单遗传算法
Q3 Computer Science Pub Date : 2019-02-28 DOI: 10.2174/1875036201912010030
S. Amiroch, M. S. Pradana, M. I. Irawan, I. Mukhlash
Multiple sequence alignment is a method of getting genomic relationships between 3 sequences or more. In multiple alignments, there are 3 mutation network analyses, namely topological network system, mutation region network and network system of mutation mode. In general, the three analyses show stable and unstable regions that map mutation regions. This area of ​​mutation is described further in a phylogenetic tree which simultaneously illustrates the path of the spread of an epidemic, the Severe Acute Respiratory Syndrome (SARS) epidemic. The process of spreading the SARS viruses, in this case, is described as the process of phylogenetic tree formation, and as a novelty of this research, multiple alignments in the process are analyzed in detail and then optimized with genetic algorithms.The data used to form the phylogenetic tree for the spread of the SARS epidemic are 14 DNA sequences which are then optimized by using genetic algorithms. The phylogenetic tree is constructed by using the neighbor-joining algorithm with a distance matrix that the intended distance is the genetic distance obtained from sequence alignment by using the Needleman Wunsch Algorithm.The results of the analysis obtained 3649 stable areas and 19 unstable areas. The results of phylogenetic tree from the network system analysis indicated that the spread of the SARS epidemic extended from Guangzhou 16/12/02 to Zhongshan 27/12/02, then spread simultaneously to Guangzhou 18/02/03 and Guangzhou hospital. After that, the virus reached Metropole, Zhongshan, Hongkong, Singapore, Taiwan, Hong kong, and Hanoi which then continued to Guangzhou 01/01/03 and Toronto at once. The results of the mutation region network system demonstrate decomposition of orthogonal mutations in the 1st order arc.
多序列比对是一种获得3个或更多序列之间基因组关系的方法。在多重比对中,有3种变异网络分析,即拓扑网络系统、变异区域网络和变异模式网络系统。一般来说,这三个分析显示了映射突变区域的稳定和不稳定区域。该区域​​在系统发育树中进一步描述了突变,该树同时说明了一种流行病——严重急性呼吸系统综合征(SARS)流行病的传播路径。在这种情况下,SARS病毒的传播过程被描述为系统发育树的形成过程,作为本研究的一个新颖之处,对该过程中的多重比对进行了详细分析,然后用遗传算法进行了优化。用于形成SARS疫情传播的系统发育树的数据是14个DNA序列,然后使用遗传算法对其进行优化。系统发育树是通过使用具有距离矩阵的邻居连接算法构建的,该距离矩阵的预期距离是通过使用Needleman-Wunsch算法从序列比对中获得的遗传距离。分析结果得到3649个稳定区和19个不稳定区。网络系统分析的系统发育树结果表明,SARS疫情的传播从2002年12月16日的广州蔓延到2002年12日的中山,然后同时蔓延到2003年2月18日的广州和广州医院。此后,病毒抵达大都会、中山、香港、新加坡、台湾、香港和河内,然后于2003年1月1日继续传播到广州和多伦多。突变区域网络系统的结果证明了正交突变在一阶弧中的分解。
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引用次数: 2
Polyp Shape Recovery from Single Endoscope Image using Medical Suture 利用医用缝合线从单个内窥镜图像中恢复息肉形状
Q3 Computer Science Pub Date : 2019-01-31 DOI: 10.2174/1875036201912010001
Hiroyasu Usami, Y. Iwahori, Aili Wang, M. Bhuyan, N. Ogasawara, K. Kasugai
Polyp shapes play an important role in colorectal diagnosis. However, endoscopy images are usually composed of nonrigid objects such as a polyp. Hence, it is challenging for polyp shape recovery. It is demanded to establish a support system of the colorectal diagnosis system based on polyp shape.Shape from Shading (SFS) is one valuable approach based on photoclinometry for polyp shape recovery. SFS and endoscope image are compatible on the first sight, but there are constraints for applying SFS to endoscope image. Those approaches need some parameters like a depth from the endoscope lens to the surface, and surface reflectance factor . Furthermore, those approaches assume the whole surface which has the same value of for the Lambertian surface.This paper contributes to mitigating constraint for applying SFS to the endoscope image based on a cue from the medical structure. An extracted medical suture is used to estimate parameters, and a method of polyp shape recovery method is proposed using both geometric and photometric constraint equations. Notably, the proposed method realizes polyp shape recovery from a single endoscope image.From experiments it was confirmed that the approximate polyp model shape was recovered and the proposed method recovered absolute size and shape of polyp using medical suture information and obtained parameters from a single endoscope image.This paper proposed a polyp shape recovery method which mitigated the constraint for applying SFS to the endoscope image using the medical suture. Notably, the proposed method realized polyp shape recovery from a single endoscope image without generating uniform Lambertian reflectance.
息肉形状在结直肠诊断中起着重要作用。然而,内窥镜检查图像通常由非刚性物体组成,如息肉。因此,息肉形状的恢复具有挑战性。需要建立一个基于息肉形态的结直肠诊断系统的支持系统。阴影形状(SFS)是一种有价值的基于光测斜的息肉形状恢复方法。SFS和内窥镜图像在第一眼上是兼容的,但将SFS应用于内窥镜的图像存在限制。这些方法需要一些参数,如从内窥镜透镜到表面的深度和表面反射率。此外,这些方法假设整个曲面具有与朗伯曲面相同的值。本文有助于减轻基于医学结构的提示将SFS应用于内窥镜图像的约束。使用提取的医用缝线来估计参数,并利用几何约束方程和光度约束方程提出了息肉形状恢复方法。值得注意的是,所提出的方法实现了从单个内窥镜图像中恢复息肉形状。从实验中证实,近似的息肉模型形状被恢复,并且所提出的方法使用医用缝合线信息和从单个内窥镜图像获得的参数来恢复息肉的绝对大小和形状。本文提出了一种息肉形状恢复方法,该方法减轻了将SFS应用于医用缝线内窥镜图像的约束。值得注意的是,所提出的方法在不产生均匀朗伯反射率的情况下实现了从单个内窥镜图像中恢复息肉形状。
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引用次数: 0
Identification and “in silico” Structural Analysis of the Glutamine-rich Protein Qrp (YheA) in Staphylococcus Aureus 金黄色葡萄球菌中谷氨酰胺富蛋白Qrp (YheA)的鉴定及“计算机”结构分析
Q3 Computer Science Pub Date : 2019-01-31 DOI: 10.2174/1875036201912010018
J. Escobar-Pérez, Katterine Ospina-Garcia, Zayda Lorena Corredor Rozo, R. A. Márquez-Ortiz, J. Castellanos, N. Gómez
YlbF and YmcA are two essential proteins for the formation of biofilm, sporulation, and competence in Bacillus subtilis. In these two proteins, a new protein domain called com_ylbF was recently discovered, but its role and protein function has not yet been established. In this study, we identified and performed an “in silico” structural analysis of the YheA protein, another com_ylbF-containing protein, in the opportunistic pathogen Staphylococcus aureus. The search of the yheA gene was performed using BLAST-P and tBLASn algorithms. The three-dimensional (3D) models of YheA, as well as YlbF and YmcA proteins, were built using the I-TASSER and Quark programs. The identification of the native YheA in Staphylococcus aureus was carried out through chromatography using the FPLC system. We found that YheA protein is more widely distributed in Gram-positive bacteria than YlbF and YmcA. Two new and important characteristics for YheA and other com_ylbF-containing proteins were found: a highly conserved 3D structure and the presence of a putative conserved motif located in the central region of the domain, which could be involved in its function. Additionally, we established that Staphylococcus aureus expresses YheA protein in both planktonic growth and biofilm. Finally, we suggest renaming YheA as glutamine-rich protein (Qrp) in S. aureus. The Grp (YheA), YlbF, and YmcA proteins adopt a highly conserved three-dimensional structure, harboring a protein-specific putative motif within the com_ylbF domain, which possibly favors the interaction with their substrates. Finally, Staphylococcus aureus expresses the Grp (YheA) protein in both planktonic and biofilm growth.
YlbF和YmcA是枯草芽孢杆菌生物膜形成、产孢和能力的两种必需蛋白。在这两种蛋白中,最近发现了一个新的蛋白结构域com_ylbF,但其作用和蛋白功能尚未确定。在本研究中,我们鉴定并进行了机会致病菌金黄色葡萄球菌(Staphylococcus aureus)中另一种含有com_ylbf的蛋白YheA蛋白的“计算机”结构分析。使用BLAST-P和tBLASn算法进行yheA基因的搜索。利用I-TASSER和Quark程序建立了YheA、YlbF和YmcA蛋白的三维模型。采用高效液相色谱法对金黄色葡萄球菌中的YheA进行了鉴定。我们发现YheA蛋白在革兰氏阳性菌中的分布比YlbF和YmcA更广泛。发现了YheA和其他含有com_ylbf的蛋白的两个新的重要特征:高度保守的三维结构和位于结构域中心区域的假定保守基序的存在,这可能与其功能有关。此外,我们确定了金黄色葡萄球菌在浮游生长和生物膜中都表达YheA蛋白。最后,我们建议将YheA重新命名为金黄色葡萄球菌中富含谷氨酰胺的蛋白(Qrp)。Grp (YheA)、YlbF和YmcA蛋白采用高度保守的三维结构,在com_ylbF结构域内含有一个蛋白质特异性的假定基序,这可能有利于与它们的底物相互作用。最后,金黄色葡萄球菌在浮游和生物膜生长中均表达Grp (YheA)蛋白。
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引用次数: 0
A Numerical Investigation of Anatomic Anterior Cruciate Ligament Reconstruction 解剖前交叉韧带重建的数值研究
Q3 Computer Science Pub Date : 2018-11-30 DOI: 10.2174/1875036201811080259
B. K. Bhat, Raviraj Adhikari, Kiran Acharya
Anterior Cruciate Ligament (ACL) reconstruction by anatomic method is the most popular method of reconstruction. This method of ACL reconstruction utilizes Anteromedial Portal (AMP) techniques. In this study, five human subjects with healthy knee joints were considered on which Lachman test was simulated. Traditional Transtibial (TT) and AMP techniques were simulated in this study. The mean value of Von – Mises stress on the ACL was calculated. ACL reconstruction using hamstring tendon graft was simulated in a finite element analysis on four healthy human knee joints. Magnetic Resonance Images (MRI) of knee joints of four healthy human subjects were analyzed in this study for statistical significance of the results. Both techniques were simulated in each of the subjects. The hamstring tendon graft used had a diameter of 9 mm. The tibial foot print was 44.6 ± 2.5% from the anterior margin and 48 ± 3% from the medial margin. The femoral foot print was calculated based on Mochizuki’s method at 38.7 ± 2.7% from the deep subchondral margin. The obliquity of reconstructed – ACL (R – ACL) to the tibial plateau for AM technique was in the range of 51 to 58 degrees in the sagittal plane and 69 to 76 degrees in the coronal plane. In the case of TT technique, it was in the range of 59 to 69 degrees in the coronal plane and 72 to 78 degrees in the coronal plane in the femur. Similarly, the sagittal obliquity of R – ACL in the tibia was 55 degrees. The mean Von–Mises stress in the R – ACL for AMP technique was 17.74 ± 3.01 MPa. The stresses in the R – ACL for AMP technique is consistently near to the mean stress in the intact ACL. Whereas, stresses in the R – ACL used in TT technique are not consistently near to the stresses in the intact ACL of a healthy human knee joint. Hence, AMP technique is the better technique between AMP and TT techniques of ACL reconstruction.
采用解剖方法重建前交叉韧带是目前最常用的重建方法。这种ACL重建方法利用了前内侧门(AMP)技术。在这项研究中,考虑了五名膝关节健康的人类受试者,在他们身上模拟了Lachman试验。本研究模拟了传统的经胫骨(TT)和AMP技术。计算前交叉韧带上Von–Mises应力的平均值。在四个健康人膝关节的有限元分析中,模拟了用腘绳肌腱移植重建ACL。本研究分析了四名健康人膝关节的磁共振成像(MRI)结果的统计学意义。两种技术都在每个受试者身上进行了模拟。所用的腘绳肌腱移植物直径为9mm。胫骨足印距前边缘为44.6±2.5%,距中边缘为48±3%。根据Mochizuki的方法计算股骨足印,距离软骨下深缘38.7±2.7%。AM技术重建的前交叉韧带(R-ACL)与胫骨平台的倾斜度在矢状面为51至58度,在冠状面为69至76度。在TT技术的情况下,股骨的冠状面在59至69度范围内,冠状面在72至78度范围内。同样,胫骨的前交叉韧带矢状倾角为55度。AMP技术的R–ACL中的平均Von–Mises应力为17.74±3.01 MPa。AMP技术的R–ACL中的应力始终接近完整ACL中的平均应力。然而,TT技术中使用的R-ACL中的应力并不总是接近健康人类膝关节的完整ACL中的压力。因此,AMP技术是ACL重建中比较好的技术。
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引用次数: 2
The Common Ancestor of Deinococcus Species was Rod-Shaped Deinococcus的共同祖先是杆状的
Q3 Computer Science Pub Date : 2018-10-30 DOI: 10.2174/1875036201811010252
Y. Morita, H. Nishida
The genusDeinococcusconsists of species in rod-shape (Bacilli) and spherical shape (Cocci).In this study, we aimed to determine whether the common ancestor ofDeinococcusspecies was rod-shaped or spherical.We compared the homologs of the proteins related to the rod-shape in bacteria (MreB, MreC, MreD, MrdA, RodA, and RodZ) in variousDeinococcusspecies andThermus thermophilus.The phylogenetic trees based on each protein and the homologs reflected the evolutionary relationships of the species, indicating that the Horizontal transfer of the genes did not occur during theDeinococcusevolution.The ancestor of the genusDeinococcuswas rod-shaped, and the spherical forms appeared when the rod-shaped formation system was lost during evolution and diversification within the genus.
双球菌属包括杆状(Bacilli)和球形(Cocci)两种。在本研究中,我们旨在确定双球菌属的共同祖先是杆状还是球形。我们比较了各种Deinoccussecies和Thermus thermophilus中与细菌杆状相关的蛋白质同源物(MreB、MreC、MreD、MrdA、RodA和RodZ)。基于每种蛋白质和同源物的系统发育树反映了物种的进化关系,表明在双球菌进化过程中没有发生基因的水平转移。双球菌属的祖先是杆状的,当杆状形成系统在属内进化和多样化过程中消失时,出现了球形。
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引用次数: 4
Protein Network Analysis to Prioritize Key Genes and Pathway for Stress-Mediated Neurodegeneration 蛋白质网络分析优先处理应激介导的神经变性关键基因和途径
Q3 Computer Science Pub Date : 2018-10-18 DOI: 10.2174/1875036201811010240
N. Srivastava, B. Mishra, P. Srivastava
Oxidative Stress (OS) has been implicated in the pathophysiology of many neurodegenerative diseases. OS can cause cellular damage that results in cell death due to overproduction of reactive oxygen species (ROS) that may play the crucial role in the disease progression. An impaired mechanism in correlation with reduced expression of antioxidant proteins is the very common feature among most of the age-related disorders. Variousin-vitroandin-vivostudies suggest the major contribution of oxidative stress in neurodegeneration. Role of Nrf2 gene is well established as a neuroprotective gene especially in concern with stress-mediated neurodegeneration. Nrf2 is a bZIP transcription factor that forms the heterodimer with small Maf protein and transcription factor AP1 that regulates transcription by binding to ARE which coordinates the transcription of genes involved in phase II detoxification and an antioxidant defense that is used to protect the cell from oxidative stress.The currentinsilicostudy was attempted to prioritize key genes and pathway in stress-mediated neurodegeneration through network-based analysis.Protein-protein interaction network was constructed and analyzed using 63 Nrf2 regulating candidate genes obtained from NCBI database based on literature studies usingSTRING 10.0database andCytoscape v 3.6.0software plug-inNetwork Analyzer.Further, the functional enrichment analysis of identified gene was done usingPANTHER GENE ONTOLOGYsoftware and DAVID tool.Based on network topological parameter, TP53, JUN, MYC, NFE2L2, AKT1, PIK3CA & UBC were identified as the key gene in the network. Among them, TP53 gene was obtained as a super hub gene with the highest Betweenness Centrality (BC) and node degree. The functional enrichment analysis was done usingPANTHER GENE ONTOLOGYsoftware and DAVID tool reveals their significant role in neurotrophin signaling pathway, MAPK signaling pathway, cellular response to stress & in the regulation of stress.The network analysis will help in prioritizing genes in the pathway that helps in understanding the underlying mechanism of disease. Thus, further study on these genes and their biological mechanism and pathway may, therefore, provide a potential target for the treatment of stress-mediated neurodegeneration.
氧化应激(OS)与许多神经退行性疾病的病理生理有关。由于活性氧(ROS)的过量产生,OS可引起细胞损伤,导致细胞死亡,而活性氧可能在疾病进展中起关键作用。在大多数年龄相关疾病中,与抗氧化蛋白表达减少相关的受损机制是非常常见的特征。各种体外和体内研究表明氧化应激在神经退行性变中的主要作用。Nrf2基因是一种神经保护基因,特别是在应激介导的神经退行性疾病中。Nrf2是一种bZIP转录因子,与小Maf蛋白和转录因子AP1形成异源二聚体,通过与ARE结合调节转录,ARE协调参与II期解毒和抗氧化防御的基因转录,用于保护细胞免受氧化应激。当前的硅研究试图通过基于网络的分析来优先考虑应激介导的神经退行性变的关键基因和途径。基于文献研究,利用ingstring 10.0数据库和cytoscape v 3.6.0软件plug-inNetwork Analyzer,从NCBI数据库中获得63个Nrf2调控候选基因,构建蛋白-蛋白互作网络并进行分析。利用panther gene ontology软件和DAVID工具对鉴定的基因进行功能富集分析。基于网络拓扑参数,确定了TP53、JUN、MYC、NFE2L2、AKT1、PIK3CA和UBC为网络中的关键基因。其中,TP53基因作为超级枢纽基因,BC和节点度最高。利用panther GENE ontology软件和DAVID工具进行功能富集分析,揭示了它们在神经营养因子信号通路、MAPK信号通路、细胞应激反应和应激调控中的重要作用。网络分析将有助于确定通路中基因的优先级,从而有助于理解疾病的潜在机制。因此,进一步研究这些基因及其生物学机制和通路可能为治疗应激介导的神经变性提供潜在的靶点。
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引用次数: 3
The Challenge of Genome Sequence Assembly 基因组序列组装的挑战
Q3 Computer Science Pub Date : 2018-10-17 DOI: 10.2174/1875036201811010231
A. Collins
Although whole genome sequencing is enabling numerous advances in many fields achieving complete chromosome-level sequence assemblies for diverse species presents difficulties. The problems in part reflect the limitations of current sequencing technologies. Chromosome assembly from ‘short read’ sequence data is confounded by the presence of repetitive genome regions with numerous similar sequence tracts which cannot be accurately positioned in the assembled sequence. Longer sequence reads often have higher error rates and may still be too short to span the larger gaps between contigs. Given the emergence of exciting new applications using sequencing technology, such as the Earth BioGenome Project, it is necessary to further develop and apply a range of strategies to achieve robust chromosome-level sequence assembly. Reviewed here are a range of methods to enhance assembly which include the use of cross-species synteny to understand relationships between sequence contigs, the development of independent genetic and/or physical scaffold maps as frameworks for assembly (for example, radiation hybrid, optical motif and chromatin interaction maps) and the use of patterns of linkage disequilibrium to help position, orient and locate contigs. A range of methods exist which might be further developed to facilitate cost-effective large-scale sequence assembly for diverse species. A combination of strategies is required to best assemble sequence data into chromosome-level assemblies. There are a number of routes towards the development of maps which span chromosomes (including physical, genetic and linkage disequilibrium maps) and construction of these whole chromosome maps greatly facilitates the ordering and orientation of sequence contigs.
尽管全基因组测序在许多领域取得了许多进展,但实现不同物种的完整染色体水平序列组装存在困难。这些问题在一定程度上反映了当前测序技术的局限性。来自“短读”序列数据的染色体组装被具有许多相似序列域的重复基因组区域的存在所混淆,这些区域无法准确定位在组装的序列中。较长的序列读取通常具有较高的错误率,并且可能仍然太短,无法跨越重叠群之间的较大间隙。鉴于使用测序技术的令人兴奋的新应用的出现,如地球生物基因组计划,有必要进一步开发和应用一系列策略,以实现强大的染色体水平序列组装。本文综述了一系列增强组装的方法,包括使用跨物种同源性来理解序列重叠群之间的关系,开发独立的遗传和/或物理支架图作为组装的框架(例如,辐射杂交、光学基序和染色质相互作用图),以及使用连锁不平衡模式来帮助定位,定向和定位重叠群。存在一系列方法,可以进一步开发,以促进不同物种的成本效益高的大规模序列组装。需要策略的组合来将序列数据最好地组装成染色体水平的组装。有许多途径可以开发跨越染色体的图谱(包括物理、遗传和连锁不平衡图谱),这些全染色体图谱的构建极大地促进了序列重叠群的排序和定向。
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引用次数: 3
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Open Bioinformatics Journal
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