Ginger Tsueng

BioGPS: building your own mash-up of gene annotations and expression profiles

BioGPS (http://biogps.org) is a centralized gene-annotation portal that enables researchers to access distributed gene annotation resources. This article focuses on the updates to BioGPS since our last paper (2013 database issue). The unique features of BioGPS, compared to those of other gene portals, are its community extensibility and user customizability. Users contribute the gene-specific resources accessible from BioGPS (‘plugins’), which helps ensure that the resource collection is always up-to-date and that it will continue expanding over time (since the 2013 paper, 162 resources have been added, for a 34% increase in the number of resources available). BioGPS users can create their own collections of relevant plugins and save them as customized gene-report pages or ‘layouts’ (since the 2013 paper, 488 user-created layouts have been added, for a 22% increase in the number of layouts). In addition, we recently updated the most popular plugin, the ‘Gene expression/activity chart’, to include ∼6000 datasets (from ∼2000 datasets) and we enhanced user interactivity. We also added a new ‘gene list’ feature that allows users to save query results for future reference.

High-performance web services for querying gene and variant annotation

Efficient tools for data management and integration are essential for many aspects of high-throughput biology. In particular, annotations of genes and human genetic variants are commonly used but highly fragmented across many resources. Here, we describe MyGene.info and MyVariant.info, high-performance web services for querying gene and variant annotation information. These web services are currently accessed more than three million times per month. They also demonstrate a generalizable cloud-based model for organizing and querying biological annotation information. MyGene.info and MyVariant.info are provided as high-performance web services, accessible at http://mygene.info and http://myvariant.info. Both are offered free of charge to the research community.

Aligning interests: Integrating Citizen Science Efforts into Schools Through Service Requirements.

Citizen science is the participation in scientific research by members of the public, and it is an increasingly valuable tool for both scientists and educators. For researchers, citizen science is a means of more quickly investigating questions which would otherwise be time-consuming and costly to study. For educators, citizen science offers a means to engage students in actual research and improve learning outcomes. Since most citizen science projects are usually designed with research goals in mind, many lack the necessary educator materials for successful integration in a formal science education (FSE) setting. In an ideal world, researchers and educators would build the necessary materials together; however, many researchers lack the time, resources, and networks to create these materials early on in the life of a citizen science project. For resource-poor projects, we propose an intermediate entry point for recruiting from the educational setting: community service or service learning requirements (CSSLRs). Many schools require students to participate in community service or service learning activities in order to graduate. When implemented well, CSSLRs provide students with growth and development opportunities outside the classroom while contributing to the community and other worthwhile causes. However, CSSLRs take time, resources, and effort to implement well. Just as citizen science projects need to establish relationships to transition well into formal science education, schools need to cultivate relationships with community service organizations. Students and educators at schools with CSSLRs where implementation is still a work in progress may be left with a burdensome requirement and inadequate support. With the help of a volunteer fulfilling a CSSLR, we investigated the number of students impacted by CSSLRs set at different levels of government and explored the qualifications needed for citizen science projects to fulfill CSSLRs by examining the explicitly-stated justifications for having CSSLRs, surveying how CSSLRs are verified, and using these qualifications to demonstrate how an online citizen science project, Mark2Cure, could use this information to meet the needs of students fulfilling CSSLRs.

Cross-linking BioThings APIs through JSON-LD to facilitate knowledge exploration

BackgroundApplication Programming Interfaces (APIs) are now widely used to distribute biological data. And many popular biological APIs developed by many different research teams have adopted Javascript Object Notation (JSON) as their primary data format. While usage of a common data format offers significant advantages, that alone is not sufficient for rich integrative queries across APIs.ResultsHere, we have implemented JSON for Linking Data (JSON-LD) technology on the BioThings APIs that we have developed, MyGene.info, MyVariant.info and MyChem.info. JSON-LD provides a standard way to add semantic context to the existing JSON data structure, for the purpose of enhancing the interoperability between APIs. We demonstrated several use cases that were facilitated by semantic annotations using JSON-LD, including simpler and more precise query capabilities as well as API cross-linking.ConclusionsWe believe that this pattern offers a generalizable solution for interoperability of APIs in the life sciences.

Science Game Lab: tool for the unification of biomedical games with a purpose

Games with a purpose and other kinds of citizen science initiatives demonstrate great potential for advancing biomedical science and improving STEM education. Articles documenting the success of projects such as Fold.it and Eyewire in high impact journals have raised wide interest in new applications of the distributed human intelligence that these systems have tapped into. However, the path from a good idea to a successful citizen science game remains highly challenging. Apart from the scientific difficulties of identifying suitable problems and appropriate human-powered solutions, the games still need to be created, need to be fun, and need to reach a large audience that remain engaged for the long-term. Here, we describe Science Game Lab (SGL) (https://sciencegamelab.org), a platform for bootstrapping the production, facilitating the publication, and boosting both the fun and the value of the user experience for scientific games with a purpose.

MyGene.info and MyVariant.info: Gene and Variant Annotation Query Services

MyGene.info and MyVariant.info provide high-performance data APIs for querying gene and variant annotation information. They demonstrate a new model for organizing biological annotation information by utilizing a cloud-based scalable infrastructure. MyGene.info and MyVariant.info can be accessed at http://mygene.info and http://myvariant.info.