How can ontologies help vector biology?

The reach of genomics has now extended to vector biology, with three mosquito genomes already sequenced and more arthropod vector genomes in the pipeline. The availability of these genomes has paved the way for high-throughput investigations on genome-wide gene expression and proteomics in vector biology. Such investigations would not have been possible without parallel progress in bioinformatics. It is now necessary to construct specific ontologies that will enable vector biologists to achieve computer-comprehensible annotation of genes and genomes, but also of various experimental, clinical and surveillance data. This will inevitably lead to the enhanced usage of such controlled vocabularies, and to an effort to develop novel ontologies, particularly in the context of disease control.     

Road-maps and revelations: on the somatic ethics of genetic susceptibility

Understanding genomic susceptibility risk has been represented as key to a new era of personalized medicine, in which “empowered” individuals shape their lives according to a “somatic ethics” of genetic risk management. Based on a comprehensive analysis of websites and other documents produced by key companies within the personal genomics industry, I argue that the rhetoric of empowerment these companies employ constructs an “ideal subject” of personal genomics while also expressing tensions implicit within the idea of a somatic ethics based on genetic susceptibility. Using Kaushik Sunder Rajan's concept of “genomic fetishism,” I show how these tensions arise from the relationship the rhetoric of personal genomics constructs between risk and uncertainty, and relate them to broader tensions within “risk thinking” as a mode of governmentality that extends beyond genomics.     

Development of FuGO: an ontology for functional genomics investigations

The development of the Functional Genomics Investigation Ontology (FuGO) is a collaborative, international effort that will provide a resource for annotating functional genomics investigations, including the study design, protocols and instrumentation used, the data generated and the types of analysis performed on the data. FuGO will contain both terms that are universal to all functional genomics investigations and those that are domain specific. In this way, the ontology will serve as the "semantic glue" to provide a common understanding of data from across these disparate data sources. In addition, FuGO will reference out to existing mature ontologies to avoid the need to duplicate these resources, and will do so in such a way as to enable their ease of use in annotation. This project is in the early stages of development; the paper will describe efforts to initiate the project, the scope and organization of the project, the work accomplished to date, and the challenges encountered, as well as future plans.     

The SOFG Anatomy Entry List (SAEL): an annotation tool for functional genomics data

A great deal of data in functional genomics studies needs to be annotated with low-resolution anatomical terms. For example, gene expression assays based on manually dissected samples (microarray, SAGE, etc.) need high-level anatomical terms to describe sample origin. First-pass annotation in high-throughput assays (e.g. large-scale in situ gene expression screens or phenotype screens) and bibliographic applications, such as selection of keywords, would also benefit from a minimum set of standard anatomical terms. Although only simple terms are required, the researcher faces serious practical problems of inconsistency and confusion, given the different aims and the range of complexity of existing anatomy ontologies. A Standards and Ontologies for Functional Genomics (SOFG) group therefore initiated discussions between several of the major anatomical ontologies for higher vertebrates. As we report here, one result of these discussions is a simple, accessible, controlled vocabulary of gross anatomical terms, the SOFG Anatomy Entry List (SAEL). The SAEL is available from http://www.sofg.org and is intended as a resource for biologists, curators, bioinformaticians and developers of software supporting functional genomics. It can be used directly for annotation in the contexts described above. Importantly, each term is linked to the corresponding term in each of the major anatomy ontologies. Where the simple list does not provide enough detail or sophistication, therefore, the researcher can use the SAEL to choose the appropriate ontology and move directly to the relevant term as an entry point. The SAEL links will also be used to support computational access to the respective ontologies.     

The Plant Ontology Consortium and plant ontologies

The goal of the Plant Ontology Consortium is to produce structured controlled vocabularies, arranged in ontologies, that can be applied to plant-based database information even as knowledge of the biology of the relevant plant taxa (e.g. development, anatomy, morphology, genomics, proteomics) is accumulating and changing. The collaborators of the Plant Ontology Consortium (POC) represent a number of core participant database groups. The Plant Ontology Consortium is expanding the paradigm of the Gene Ontology Consortium (http://www.geneontology.org). Various trait ontologies (agronomic traits, mutant phenotypes, phenotypes, traits, and QTL) and plant ontologies (plant development, anatomy [incl. morphology]) for several taxa (Arabidopsis, maize/corn/Zea mays and rice/Oryza) are under development. The products of the Plant Ontology Consortium will be open-source.     

The future role of bio-ontologies for developing a general data standard in biology: chance and challenge for zoo-morphology

Due to lack of common data standards, the communicability and comparability of biological data across various levels of organization and taxonomic groups is continuously decreasing. However, the interdependence between molecular and higher levels of organization is of growing interest and calls for co-operations between biologists from different methodological and theoretical backgrounds. A general data standard in biology would greatly facilitate such co-operations. This article examines the role that defined and formalized vocabularies (i.e., ontologies) could have in developing such a data standard. I suggest basic criteria for developing data standards on grounds of distinguishing content, concept, nomenclatural, and format standards and discuss the role of data bases and their use of bio-ontologies in current activities for data standardization in biology. General principles of ontology development are introduced, including foundational ontology properties (e.g. class–subclass, parthood), and how concepts are defined. After addressing problems that are specific to morphological data, the notion of a general structure concept for morphology is introduced and why it is required for developing a morphological ontology. The necessity for a general morphological ontology to be taxon-independent and free of homology assumptions is discussed and how it can solve the problems of morphology. The article concludes with an outlook on how the use of ontologies will likely establish some sort of general data standard in biology and why the development of a set of commonly used foundational ontology properties and the use of globally unique identifiers for all classes defined in ontologies is crucial for its success.     

Conscientious objection in healthcare: How much discretionary space best supports good medicine?

Daniel Sulmasy has recently argued that good medicine depends on physicians having a wide discretionary space in which they can act on their consciences. The only constraints Sulmasy believes we should place on physicians’ discretionary space are those defined by a form of tolerance he derives from Locke, whereby people can publicly act in accordance with their personal religious and moral beliefs as long as their actions are not destructive to society. Sulmasy also claims that those who would reject physicians’ right to conscientious objection eliminate discretionary space, thus undermining good medicine and unnecessarily limiting religious freedom. I argue that, although Sulmasy is correct that some discretionary space is necessary for good medicine, he is wrong in thinking that proscribing conscientious objection entails eliminating discretionary space. I illustrate this using Julian Savulescu and Udo Schuklenk’s system for restricting conscientious objections as a counter‐example. I then argue that a narrow discretionary space constrained by professional ideals will promote good medicine better than Sulmasy’s wider discretionary space constrained by his conception of tolerance. Sulmasy’s version of discretionary space would have us tolerate actions that are at odds with aspects of good medicine, including aspects that Sulmasy himself explicitly values, such as fiduciary duty. Therefore, if we want the degree of religious freedom in the public sphere that Sulmasy favours then we must decide whether it is worth the cost to the healthcare system.     

Anticipation of Personal Genomics Data Enhances Interest and Learning Environment in Genomics and Molecular Biology Undergraduate Courses

An important discussion at colleges is centered on determining more effective models for teaching undergraduates. As personalized genomics has become more common, we hypothesized it could be a valuable tool to make science education more hands on, personal, and engaging for college undergraduates. We hypothesized that providing students with personal genome testing kits would enhance the learning experience of students in two undergraduate courses at Brigham Young University: Advanced Molecular Biology and Genomics. These courses have an emphasis on personal genomics the last two weeks of the semester. Students taking these courses were given the option to receive personal genomics kits in 2014, whereas in 2015 they were not. Students sent their personal genomics samples in on their own and received the data after the course ended. We surveyed students in these courses before and after the two-week emphasis on personal genomics to collect data on whether anticipation of obtaining their own personal genomic data impacted undergraduate student learning. We also tested to see if specific personal genomic assignments improved the learning experience by analyzing the data from the undergraduate students who completed both the pre- and post-course surveys. Anticipation of personal genomic data significantly enhanced student interest and the learning environment based on the time students spent researching personal genomic material and their self-reported attitudes compared to those who did not anticipate getting their own data. Personal genomics homework assignments significantly enhanced the undergraduate student interest and learning based on the same criteria and a personal genomics quiz. We found that for the undergraduate students in both molecular biology and genomics courses, incorporation of personal genomic testing can be an effective educational tool in undergraduate science education.     

面向药物发现和精准医疗的基因表达谱分析

作为功能基因组学中重要的组成部分,基因表达谱在生物学、医学和药物研发等多个领域发挥着重要作用.特别是随着精准医疗概念的提出,整合多组学数据用于个性化医疗是未来的发展趋势.本文从基因表达谱的基本概念出发,重点介绍面向药物发现的基因表达谱分析方法,即基于关联图谱的方法、基于基因调控网络的方法和基于多组学数据整合的方法.系统整理了各种方法的研究进展,特别是在抗癌药物研发领域的最新进展,为利用基因表达谱数据进行药物研发提供方法借鉴.     

Educating health-care professionals about genetics and genomics

To biomedical researchers, this is the 'genome era'. Advances in genetics and genomics such as the sequence of the human genome, the human haplotype map, open access databases, cheaper genotyping and chemical genomics have already transformed basic and translational biomedical research. However, for most clinicians, the genome era has not yet arrived. For genomics to have an effect on clinical practice that is comparable to its impact on research will require advances in the genomic literacy of health-care providers. Here we describe the knowledge, skills and attitudes that genomic medicine will require, and approaches to integrate them into the health-care community.     

Systems Approaches to Biology and Disease Enable Translational Systems Medicine

The development and application of systems strategies to biology and disease are transforming medical research and clinical practice in an unprecedented rate.In the foreseeable future,clinicians,medical researchers,and ultimately the consumers and patients will be increasingly equipped with a deluge of personal health information,e.g.,whole genome sequences,molecular profiling of diseased tissues,and periodic multi-analyte blood testing of biomarker panels for disease and wellness.The convergence of these practices will enable accurate prediction of disease susceptibility and early diagnosis for actionable preventive schema and personalized treatment regimes tailored to each individual.It will also entail proactive participation from all major stakeholders in the health care system.We are at the dawn of predictive,preventive,personalized,and participatory(P4) medicine,the fully implementation of which requires marrying basic and clinical researches through advanced systems thinking and the employment of high-throughput technologies in genomics,proteomics,nanofluidics,single-cell analysis,and computation strategies in a highly-orchestrated discipline we termed translational systems medicine.     

Commitment of Mathematicians in Medicine: A Personal Experience, and Generalisations

I will present here a personal point of view on the commitment of mathematicians in medicine. Starting from my personal experience, I will suggest generalisations including favourable signs and caveats to show how mathematicians can be welcome and helpful in medicine, both in a theoretical and in a practical way.     

Totemism, Animism and North Asian Indigenous Ontologies

This article examines the extent to which new theories of animism advanced by Descola and Viveiros de Castro are consistent with the indigenous ontologies of North Asia. Based on a survey of North Asian ethnography and on fieldwork in Mongolia and Siberia, it is proposed that an analytical distinction between animist and totemist modalities will shed light on indigenous ontologies in North Asia. Whereas the ontologies of Northern North Asia (NNA) are predominantly animistic in nature, the ontologies of Southern North Asia (SNA) are predominantly totemistic. This opposition falls in line with established anthropological distinctions concerning North Asian societies, such as the one between 'horizontally' and 'vertically' organized social formations. Finally, adopting Viveiros de Castro's notion of 'perspectivism', I address the question of why, when perspectivist notions seem to thrive in NNA, the societies of SNA do not show them.     

Current Status of Genetics and Genomics of Reared Penaeid Shrimp: Information Relevant to Access and Benefit Sharing

At present, research and progress in shrimp genomics and genetics show significant developments. Shrimp genetics and genomics also show immense potential for an increased production in a way that meets shrimp culture progress goals for the third millennium. This review article aims to provide an overview of its current status and future direction, discusses questions that need focused research to address them, and summarizes areas where genetics and genomics knowledge can make a positive difference to shrimp culture sustainability. Sustainable progress of penaeid shrimps will depend upon feasible solutions for environmental, research, economic, consumer problems, proper development, and planning policy enforcement. It is recommended that increased funding for biotechnology research and progress be directed to expand worldwide commercial shrimp culture and address environmental and public health issues. For any researcher or shrimp company member who has attempted to or whom would like to thoroughly search the literature to gain a complete understanding of the current state of shrimp genetics and genomics, this publication will be an invaluable source of reference materials, some of which is reported here for the first time.     

Benchmarking ontologies: bigger or better?

A scientific ontology is a formal representation of knowledge within a domain, typically including central concepts, their properties, and relations. With the rise of computers and high-throughput data collection, ontologies have become essential to data mining and sharing across communities in the biomedical sciences. Powerful approaches exist for testing the internal consistency of an ontology, but not for assessing the fidelity of its domain representation. We introduce a family of metrics that describe the breadth and depth with which an ontology represents its knowledge domain. We then test these metrics using (1) four of the most common medical ontologies with respect to a corpus of medical documents and (2) seven of the most popular English thesauri with respect to three corpora that sample language from medicine, news, and novels. Here we show that our approach captures the quality of ontological representation and guides efforts to narrow the breach between ontology and collective discourse within a domain. Our results also demonstrate key features of medical ontologies, English thesauri, and discourse from different domains. Medical ontologies have a small intersection, as do English thesauri. Moreover, dialects characteristic of distinct domains vary strikingly as many of the same words are used quite differently in medicine, news, and novels. As ontologies are intended to mirror the state of knowledge, our methods to tighten the fit between ontology and domain will increase their relevance for new areas of biomedical science and improve the accuracy and power of inferences computed across them.     

Genomics and the second golden era of cancer drug development

The first golden era of cancer drug development was initiated in the 1940s and gave rise to the cytotoxic agents that dominate current cancer medicine. The second golden era is now underway in which cancer genomics will direct drug development.     

代谢组学在中药研究中的应用进展

代谢组学是功能基因组学和系统生物学研究不可或缺的重要组成部分,是通过考察生物体系受刺激或扰动前后代谢产物的动态变化,研究生物体系的代谢网络的一种技术。应用代谢组学高通量、整体性的研究思路来理解中药的作用过程,与中医药的整体、辩证观点是一致的。代谢组学已成为中药研发的一个重要途径和手段,为中药现代化在技术上提供巨大支持,有助于为中药现代化研究寻找更多有效的突破口。本文在前人综述的基础上,着重概括了中药代谢组学研究方法近3年来在中药有效物质基础和作用机制、药物作用模型的鉴别和确证、毒性研究和中药安全性评价等方面的应用情况,同时展望了代谢组学方法所面临的机遇和挑战。     

系统生物学——生命科学的新领域

系统生物学是继基因组学、蛋白质组学之后一门新兴的生物学交叉学科,代表21世纪生物学的未来.最近,系统生物学研究机构纷纷成立.在研究上,了解一个复杂的生物系统需要整合实验和计算方法.基因组学和蛋白质组学中的高通量方法为系统生物学发展提供了大量的数据.计算生物学通过数据处理、模型构建和理论分析,成为系统生物学发展的一个必不可缺、强有力的工具.在应用上,系统生物学代表新一代医药开发和疾病防治的方向.