The Androgen Receptor Gene Mutations Database.

The current version of the androgen receptor (AR) gene mutations database is described. The total number of reported mutations has risen from 272 to 309 in the past year. We have expanded the database: (i) by giving each entry an accession number; (ii) by adding information on the length of polymorphic polyglutamine (polyGln) and polyglycine (polyGly) tracts in exon 1; (iii) by adding information on large gene deletions; (iv) by providing a direct link with a completely searchable database (courtesy EMBL-European Bioinformatics Institute). The addition of the exon 1 polymorphisms is discussed in light of their possible relevance as markers for predisposition to prostate or breast cancer. The database is also available on the internet (http://www.mcgill. ca/androgendb/ ), from EMBL-European Bioinformatics Institute (ftp. ebi.ac.uk/pub/databases/androgen ), or as a Macintosh FilemakerPro or Word file (MC33@musica.mcgill.ca).     

The bovine lactation genome: insights into the evolution of mammalian milk

One of the major genomics challenges is to better understand how correct gene expression is orchestrated. Recent studies have shown how spatial chromatin organization is critical in the regulation of gene expression. Here, we developed a suite of computer programs to identify chromatin conformation signatures with 5C technology http://Dostielab.biochem.mcgill.ca. We identified dynamic HoxA cluster chromatin conformation signatures associated with cellular differentiation. Genome-wide chromatin conformation signature identification might uniquely identify disease-associated states and represent an entirely novel class of human disease biomarkers.     

Chromatin conformation signatures of cellular differentiation

One of the major genomics challenges is to better understand how correct gene expression is orchestrated. Recent studies have shown how spatial chromatin organization is critical in the regulation of gene expression. Here, we developed a suite of computer programs to identify chromatin conformation signatures with 5C technology http://Dostielab.biochem.mcgill.ca. We identified dynamic HoxA cluster chromatin conformation signatures associated with cellular differentiation. Genome-wide chromatin conformation signature identification might uniquely identify disease-associated states and represent an entirely novel class of human disease biomarkers.     

A low-latency,big database system and browser for storage,querying and visualization of 3D genomic data

Recent releases of genome three-dimensional (3D) structures have the potential to transform our understanding of genomes. Nonetheless, the storage technology and visualization tools need to evolve to offer to the scientific community fast and convenient access to these data. We introduce simultaneously a database system to store and query 3D genomic data (3DBG), and a 3D genome browser to visualize and explore 3D genome structures (3DGB). We benchmark 3DBG against state-of-the-art systems and demonstrate that it is faster than previous solutions, and importantly gracefully scales with the size of data. We also illustrate the usefulness of our 3D genome Web browser to explore human genome structures. The 3D genome browser is available at http://3dgb.cs.mcgill.ca/.     

增强子及其生物信息学预测

真核生物基因表达调控是当代分子生物学研究的重要课题之一。增强子是主要的真核生物基因表达调控的顺式作用元件,能有效促进基因表达。因此,增强子的相关研究是当今分子生物学研究的重点之一。运用生物信息学方法具有方便、快捷以及成本低等优势,这使得生物信息学成为当代分子生物学研究的重要工具。本文简单综述了增强子相关研究进展和采用生物信息学策略对序列保守性增强子进行预测和定位的几个常用数据库和具体方法。     

斑马鱼ca15b的克隆及在原始生殖细胞中的特异表达

高保真PCR克隆获得了ca15b基因的全长,利用胚胎整体原位杂交等技术研究了ca15b基因在斑马鱼早期发育过程中的动态表达。结果发现,ca15b在斑马鱼早期发育过程中存在显著的原始生殖细胞（Primordial germ cell,PGC）特异表达模式。ca15b是一个母源性表达的基因:在分裂期的胚胎中,其mRNA集中分布于位于分裂沟的生殖质（Germ plasm）;从囊胚期开始,可以观察到其在PGC中的特异表达;在原肠胚中,其mRNA在体细胞中急剧降解,仅特异表达于PGC,这一表达特征一直持续到受精后1d的胚胎。将体外合成的包含5'UTR和3'UTR的ca15b全长mRNA注射到斑马鱼胚胎后,仅能增强原肠期之前胚胎中ca15b的整体杂交信号;在原肠胚期之后,注射的mRNA在体细胞中快速降解。这提示在ca15b mRNA上可能存在某种转录后调控其在早期胚胎体细胞中降解而在PGC中稳定存在的机制。       

Bioinformatics visualization and integration with open standards: the Bluejay genomic browser

We have created a new Java-based integrated computational environment for the exploration of genomic data, called Bluejay. The system is capable of using almost any XML file related to genomic data. Non-XML data sources can be accessed via a proxy server. Bluejay has several features, which are new to Bioinformatics, including an unlimited semantic zoom capability, coupled with Scalable Vector Graphics (SVG) outputs; an implementation of the XLink standard, which features access to MAGPIE Genecards as well as any BioMOBY service accessible over the Internet; and the integration of gene chip analysis tools with the functional assignments. The system can be used as a signed web applet, Web Start, and a local stand-alone application, with or without connection to the Internet. It is available free of charge and as open source via http://bluejay.ucalgary.ca.     

MATLAB 7.X生物信息工具箱的应用--系统发生分析(五)

MATLAB 7.X生物信息工具箱为广大用户提供了一个用于系统发生分析的综合环境,它能利用数据库资源,方便获取DNA/蛋白质序列数据,所有操作简单高效,结果可视化程度高。在工具箱提供的开放环境里,用户还可以根据自己的目标来设计和利用分析工具。本文介绍MATLAB7.X生物信息工具箱在构建系统发生树方面的应用,以人科线粒体基因序列作为分子标记构建一株人科系统发生树为例,说明在MATLAB环境下对系统发生树的分析和处理。     

MATLAB7．X生物信息工具箱的应用——基因序列分析（一）

MATLAB7．X生物信息工具箱为广大用户提供了一个用于基因组和蛋白质组分析的综合环境,它利用数据库资源,使科学研究事半功倍,在工具箱提供的开放环境里,用户甚至可以按照自己的目的来设计和利用分析工具。本文主要介绍了MATLAB7．X生物信息工具箱在基因序列分析中的应用,包括确定核苷酸组成,密码子组成,氨基酸转化和组成等,所有操作简便高效。结果可视化程度高。     

MATLAB 7.X生物信息工具箱的应用——基因序列分析(一)

MATLAB 7.X生物信息工具箱为广大用户提供了一个用于基因组和蛋白质组分析的综合环境,它利用数据库资源,使科学研究事半功倍,在工具箱提供的开放环境里,用户甚至可以按照自己的目的来设计和利用分析工具.本文主要介绍了MATLAB7.X生物信息工具箱在基因序列分析中的应用,包括确定核苷酸组成,密码子组成,氨基酸转化和组成等,所有操作简便高效,结果可视化程度高.     

A global sampling approach to designing and reengineering RNA secondary structures

The development of algorithms for designing artificial RNA sequences that fold into specific secondary structures has many potential biomedical and synthetic biology applications. To date, this problem remains computationally difficult, and current strategies to address it resort to heuristics and stochastic search techniques. The most popular methods consist of two steps: First a random seed sequence is generated; next, this seed is progressively modified (i.e. mutated) to adopt the desired folding properties. Although computationally inexpensive, this approach raises several questions such as (i) the influence of the seed; and (ii) the efficiency of single-path directed searches that may be affected by energy barriers in the mutational landscape. In this article, we present RNA-ensign, a novel paradigm for RNA design. Instead of taking a progressive adaptive walk driven by local search criteria, we use an efficient global sampling algorithm to examine large regions of the mutational landscape under structural and thermodynamical constraints until a solution is found. When considering the influence of the seeds and the target secondary structures, our results show that, compared to single-path directed searches, our approach is more robust, succeeds more often and generates more thermodynamically stable sequences. An ensemble approach to RNA design is thus well worth pursuing as a complement to existing approaches. RNA-ensign is available at http://csb.cs.mcgill.ca/RNAensign.     

Complexity of polycomb group function: Diverse mechanisms of target specificity

Epigenetic regulation of gene expression has become relevant to nearly all areas of biomedical research. The emergence of technologies that allow for examination of the epigenome combined with identification of key protein complexes that mediate the myriad chromatin modifications that occur have greatly enhanced the versatility and efficacy of tools with which to study normal development and disease states. The evolutionarily conserved polycomb group genes (PcG) have been identified as a predominant mechanism by which gene silencing occurs during development, differentiation, and disease. While molecular events that target PcG complexes have been well defined in some non‐vertebrate models, the details of locus specificity and functional diversity of mammalian PcG proteins have not yet unresolved. Here we discuss recent findings that offer novel mechanistic events and add complexity to our understanding of PcG function in vertebrates. J. Cell. Physiol. 226: 1719–1721, 2011. © 2010 Wiley‐Liss, Inc.     

Tools for visually exploring biological networks

Many tools exist for visually exploring biological networks including well-known examples such as Cytoscape, VisANT, Pathway Studio and Patika. These systems play a key role in the development of integrative biology, systems biology and integrative bioinformatics. The trend in the development of these tools is to go beyond 'static' representations of cellular state, towards a more dynamic model of cellular processes through the incorporation of gene expression data, subcellular localization information and time-dependent behavior. We provide a comprehensive review of the relative advantages and disadvantages of existing systems with two goals in mind: to aid researchers in efficiently identifying the appropriate existing tools for data visualization; to describe the necessary and realistic goals for the next generation of visualization tools. In view of the first goal, we provide in the Supplementary Material a systematic comparison of more than 35 existing tools in terms of over 25 different features. Supplementary information: Supplementary data are available at Bioinformatics online.     

Genes Selection Comparative Study in Microarray Data Analysis

In response to the rapid development of DNA Microarray Technologies, many differentially expressed genes selection algorithms have been developed, and different comparison studies of these algorithms have been done. However, it is not clear how these methods compare with each other, especially when we used different developments tools. Here, we considered three commonly used differentially expressed genes selection approaches, namely: Fold Change, T-test and SAM, using Bioinformatics Matlab Toolbox and R/BioConductor. We used two datasets, issued from the affymetrix technology, to present results of used methods and software''s in gene selection process. The results, in terms of sensitivity and specificity, indicate that the behavior of SAM is better compared to Fold Change and T-test using R/BioConductor. While, no practical differences were observed between the three gene selection methods when using Bioinformatics Matlab Toolbox. In face of our result, the ROC curve shows that: on the one hand R/BioConductor using SAM is favored for microarray selection compared to the other methods. And, on the other hand, results of the three studied gene selection methods using Bioinformatics Matlab Toolbox are still comparable for the two datasets used.     

The androgen receptor gene mutations database.

The current version of the androgen receptor (AR) gene mutations database is described. We have added (if available) data on the androgen binding phenotype of the mutant AR, the clinical phenotype of the affected persons, the family history and whether the pathogenicity of a mutation has been proven. Exonic mutations are now listed in 5'-->3' sequence regardless of type and single base pair changes are presented in codon context. Splice site and intronic mutations are listed separately. The database has allowed us to substantiate and amplify the observation of mutational hot spots within exons encoding the AR androgen binding domain. The database is available from EML (ftp://www.ebi.ac.uk/pub/databases/androgen) or as a Macintosh Filemaker file (MC33@musica.mcgill.ca).     

Continuing Education Workshops in Bioinformatics Positively Impact Research and Careers

Bioinformatics.ca has been hosting continuing education programs in introductory and advanced bioinformatics topics in Canada since 1999 and has trained more than 2,000 participants to date. These workshops have been adapted over the years to keep pace with advances in both science and technology as well as the changing landscape in available learning modalities and the bioinformatics training needs of our audience. Post-workshop surveys have been a mandatory component of each workshop and are used to ensure appropriate adjustments are made to workshops to maximize learning. However, neither bioinformatics.ca nor others offering similar training programs have explored the long-term impact of bioinformatics continuing education training. Bioinformatics.ca recently initiated a look back on the impact its workshops have had on the career trajectories, research outcomes, publications, and collaborations of its participants. Using an anonymous online survey, bioinformatics.ca analyzed responses from those surveyed and discovered its workshops have had a positive impact on collaborations, research, publications, and career progression.B. F. Francis Ouellette is an Education Editor for PLOS Computational Biology     

The androgen receptor gene mutations database.

The androgen receptor gene mutations database is a comprehensive listing of mutations published in journals and meetings proceedings. The majority of mutations are point mutations identified in patients with androgen insensitivity syndrome. Information is included regarding the phenotype, the nature and location of the mutations, as well as the effects of the mutations on the androgen binding activity of the receptor. The current version of the database contains 149 entries, of which 114 are unique mutations. The database is available from EMBL (NetServ@EMBL-Heidelberg.DE) or as a Macintosh Filemaker file (mc33001@musica.mcgill.ca).     

生物信息学中的分布式计算

生物信息学的发展给计算机技术带来了挑战,通过介绍当前在生物信息学研究领域已经得到广泛使用或正在研发的各种分布式计算平台、工具或研究项目,以此来概观生物信息学领域中分布式计算应用的现状。