Inigo San Gil

Genomic Standards Consortium Projects

The Genomic Standards Consortium (GSC) is an open-membership community that was founded in 2005 to work towards the development, implementation and harmonization of standards in the field of genomics. Starting with the defined task of establishing a minimal set of descriptions the GSC has evolved into an active standards-setting body that currently has 18 ongoing projects, with additional projects regularly proposed from within and outside the GSC. Here we describe our recently enacted policy for proposing new activities that are intended to be taken on by the GSC, along with the template for proposing such new activities.

Meeting Report: the fifth Genomic Standards Consortium workshop

This meeting report summarizes the proceedings of the fifth Genomic Standards Consortium (GSC) workshop held December 12-14, 2007, at the European Bioinformatics Institute (EBI), Cambridge, UK. This fifth workshop served as a milestone event in the evolution of the GSC (launched in September 2005); the key outcome of the workshop was the finalization of a stable version of the MIGS specification (v2.0) for publication. This accomplishment enables, and also in some cases necessitates, downstream activities, which are described in the multiauthor, consensus-driven articles in this special issue of OMICS produced as a direct result of the workshop. This report briefly summarizes the workshop and overviews the special issue. In particular, it aims to explain how the various GSC-led projects are working together to help this community achieve its stated mission of further standardizing the descriptions of genomes and metagenomes and implementing improved mechanisms of data exchange and integration to enable more accurate comparative analyses. Further information about the GSC and its range of activities can be found at http://gensc.org.

Fostering ecological data sharing: collaborations in the International Long Term Ecological Research Network

The International Long Term Ecological Research (ILTER) Network was established in 1993 and is now composed of thirty-eight national networks representing a diversity of ecosystems around the globe. Data generated by the ILTER Network are valuable for scientists addressing broad spatial and temporal scale research questions, but only if these data can be easily discovered, accessed, and understood. Challenges to publishing ILTER data have included unequal distribution among networks of information management expertise, user-friendly tools, and resources. Language and translation have also been issues. Despite these significant obstacles, ILTER information managers have formed grassroots partnerships and collaborated to provide information management training, adopt a common metadata standard, develop information management tools useful throughout the network, and organize scientist/information manager workshops that encourage scientists to share and integrate data. Throughout this article, we share lessons learned from the successes of these grassroots international partnerships to inform others who wish to collaborate internationally on projects that depend on data sharing entailing similar management challenges.

Metadata Activities in Biology

The National Biological Information Infrastructure (NBII) has advanced the ability of biological sciences to standardize, share, integrate, and synthesize data by making the metadata program a core of its activities. A series of crosswalks for the main biological metadata specifications enable data providers and international clearinghouses to aggregate and disseminate tens of thousands of metadata records describing petabytes of data records and allow for interoperability. These efforts were accomplished by forming strategic partnerships with key research organizations in the biological and ecological sciences. This paper provides an overview of metadata initiatives undertaken by NBII and the Long Term Ecological Research Network. New efforts to provide better metadata creation and curation tools based on content management systems with semantic mediation for data discovery are presented.

A flexible online metadata editing and management system

Abstract Our team developed a metadata editing and management system employing state of the art XML technologies initially aimed at the environmental sciences but with the potential to be useful across multiple domains. We chose a modular and distributed design for scalability, flexibility, options for customizations, and the possibility to add more functionality at a later stage. The system consists of a desktop design tool that generates code for the actual online editor, a native XML database, and an online user access management application. A Java Swing application that reads an XML schema, the design tool provides the designer with options to combine input fields into online forms with user-friendly tags and determine the flow of input forms. Based on design decisions, the tool generates XForm code for the online metadata editor which is based on the Orbeon XForms engine. The design tool fulfills two requirements: First data entry forms based on a schema are customized at design time and second the tool can generate data entry applications for any valid XML schema without relying on custom information in the schema. A configuration file in the design tool saves custom information generated at design time. Future developments will add functionality to the design tool to integrate help text, tool tips, project specific keyword lists, and thesaurus services. Cascading style sheets customize the look-and-feel of the finished editor. The editor produces XML files in compliance with the original schema, however, a user may save the input into a native XML database at any time independent of validity. The system uses the open source XML database eXist for storage and uses a MySQL relational database and a simple Java Server Faces user interface for file and access management. We chose three levels to distribute administrative responsibilities and handle the common situation of an information manager entering the bulk of the metadata but leave specifics to the actual data provider.

Defining linkages between the GSC and NSF's LTER program: How the Ecological Metadata Language (EML) relates to GCDML and other outcomes

The Genomic Standards Consortium (GSC) invited a representative of the Long-Term Ecological Research (LTER) to its fifth workshop to present the Ecological Metadata Language (EML) metadata standard and its relationship to the Minimum Information about a Genome/Metagenome Sequence (MIGS/MIMS) and its implementation, the Genomic Contextual Data Markup Language (GCDML). The LTER is one of the top National Science Foundation (NSF) programs in biology since 1980, representing diverse ecosystems and creating long-term, interdisciplinary research, synthesis of information, and theory. The adoption of EML as the LTER network standard has been key to build network synthesis architectures based on high-quality standardized metadata. EML is the NSF-recognized metadata standard for LTER, and EML is a criteria used to review the LTER program progress. At the workshop, a potential crosswalk between the GCDML and EML was explored. Also, collaboration between the LTER and GSC developers was proposed to join efforts toward a common metadata cataloging designers tool. The community adoption success of a metadata standard depends, among other factors, on the tools and trainings developed to use the standard. LTERs experience in embracing EML may help GSC to achieve similar success. A possible collaboration between LTER and GSC to provide training opportunities for GCDML and the associated tools is being explored. Finally, LTER is investigating EML enhancements to better accommodate genomics data, possibly integrating the GCDML schema into EML. All these action items have been accepted by the LTER contingent, and further collaboration between the GSC and LTER is expected.

RCN4GSC Workshop Report: Managing Data at the Interface of Biodiversity and (Meta)Genomics, March 2011

Building on the planning efforts of the RCN4GSC project, a workshop was convened in San Diego to bring together experts from genomics and metagenomics, biodiversity, ecology, and bioinformatics with the charge to identify potential for positive interactions and progress, especially building on successes at establishing data standards by the GSC and by the biodiversity and ecological communities. Until recently, the contribution of microbial life to the biomass and biodiversity of the biosphere was largely overlooked (because it was resistant to systematic study). Now, emerging genomic and metagenomic tools are making investigation possible. Initial research findings suggest that major advances are in the offing. Although different research communities share some overlapping concepts and traditions, they differ significantly in sampling approaches, vocabularies and workflows. Likewise, their definitions of ‘fitness for use’ for data differ significantly, as this concept stems from the specific research questions of most importance in the different fields. Nevertheless, there is little doubt that there is much to be gained from greater coordination and integration. As a first step toward interoperability of the information systems used by the different communities, participants agreed to conduct a case study on two of the leading data standards from the two formerly disparate fields: (a) GSC’s standard checklists for genomics and metagenomics and (b) TDWG’s Darwin Core standard, used primarily in taxonomy and systematic biology.

Examples of ecological data synthesis driven by rich metadata, and practical guidelines to use the Ecological Metadata Language specification to this end

We present two examples of scientific results using a semi-automated data synthesis driven by quality, rich-content metadata: 1) Antarctic climate and 2) effects of drought on biodiversity. We use a framework for semi-automated processing of data supported by quality controlled, content-rich metadata expressed in the Ecological Metadata Language (EML). We discuss a set of common practices for EML newcomers as a valuable guide for the EML use. We provide some simple tools that can be used to address quality control as the EML is generated. Based on our extended EML experience, we make recommendations about the future of EML.

Case Studies of Ecological Integrative Information Systems: The Luquillo and Sevilleta Information Management Systems

The thirty-year-old United States Long Term Ecological Research Network has developed extensive metadata to document their scientific data. Standard and interoperable metadata is a core component of the data-driven analytical solutions developed by this research network Content management systems offer an affordable solution for rapid deployment of metadata centered information management systems. We developed a customized integrative metadata management system based on the Drupal content management system technology. Building on knowledge and experience with the Sevilleta and Luquillo Long Term Ecological Research sites, we successfully deployed the first two medium-scale customized prototypes. In this paper, we describe the vision behind our Drupal based information management instances, and list the features offered through these Drupal based systems. We also outline the plans to expand the information services offered through these metadata centered management systems. We will conclude with the growing list of participants deploying similar instances.

RCN4GSC Workshop Report: Modeling a Testbed for Managing Data at the Interface of Biodiversity and (Meta)Genomics, April 2011

At the GSC11 meeting (4–6 April 2011, Hinxton, England, the GSC’s genomic biodiversity working group (GBWG) developed an initial model for a data management testbed at the interface of biodiversity with genomics and metagenomics. With representatives of the Global Biodiversity Information Facility (GBIF) participating, it was agreed that the most useful course of action would be for GBIF to collaborate with the GSC in its ongoing GBWG workshops to achieve common goals around interoperability/data integration across (meta)-genomic and species level data. It was determined that a quick comparison should be made of the contents of the Darwin Core (DwC) and the GSC data checklists, with a goal of determining their degree of overlap and compatibility. An ad-hoc task group lead by Renzo Kottman and Peter Dawyndt undertook an initial comparison between the Darwin Core (DwC) standard used by the Global Biodiversity Information Facility (GBIF) and the MIxS checklists put forward by the Genomic Standards Consortium (GSC). A term-by-term comparison showed that DwC and GSC concepts complement each other far more than they compete with each other. Because the preliminary analysis done at this meeting was based on expertise with GSC standards, but not with DwC standards, the group recommended that a joint meeting of DwC and GSC experts be convened as soon as possible to continue this joint assessment and to propose additional work going forward.