RESUMO
Myriad policy, ethical and legal considerations underpin the sharing of biological resources, implying the need for standardised and yet flexible ways to digitally represent diverse 'use conditions'. We report a core lexicon of terms that are atomic, non-directional 'concepts of use', called Common Conditions of use Elements. This work engaged biobanks and registries relevant to the European Joint Programme for Rare Diseases and aimed to produce a lexicon that would have generalised utility. Seventy-six concepts were initially identified from diverse real-world settings, and via iterative rounds of deliberation and user-testing these were optimised and condensed down to 20 items. To validate utility, support software and training information was provided to biobanks and registries who were asked to create Sharing Policy Profiles. This succeeded and involved adding standardised directionality and scope annotations to the employed terms. The addition of free-text parameters was also explored. The approach is now being adopted by several real-world projects, enabling this standard to evolve progressively into a universal basis for representing and managing conditions of use.
Assuntos
Bancos de Espécimes Biológicos , Humanos , Disseminação de Informação , Sistema de RegistrosRESUMO
Artificial intelligence (AI) today is very successful at standard pattern-recognition tasks due to the availability of large amounts of data and advances in statistical data-driven machine learning. However, there is still a large gap between AI pattern recognition and human-level concept learning. Humans can learn amazingly well even under uncertainty from just a few examples and are capable of generalizing these concepts to solve new conceptual problems. The growing interest in explainable machine intelligence requires experimental environments and diagnostic/benchmark datasets to analyze existing approaches and drive progress in pattern analysis and machine intelligence. In this paper, we provide an overview of current AI solutions for benchmarking concept learning, reasoning, and generalization; discuss the state-of-the-art of existing diagnostic/benchmark datasets (such as CLEVR, CLEVRER, CLOSURE, CURI, Bongard-LOGO, V-PROM, RAVEN, Kandinsky Patterns, CLEVR-Humans, CLEVRER-Humans, and their extension containing human language); and provide an outlook of some future research directions in this exciting research domain.
RESUMO
In rare disease (RD) research, there is a huge need to systematically collect biomaterials, phenotypic, and genomic data in a standardized way and to make them findable, accessible, interoperable and reusable (FAIR). RD-Connect is a 6 years global infrastructure project initiated in November 2012 that links genomic data with patient registries, biobanks, and clinical bioinformatics tools to create a central research resource for RDs. Here, we present RD-Connect Registry & Biobank Finder, a tool that helps RD researchers to find RD biobanks and registries and provide information on the availability and accessibility of content in each database. The finder concentrates information that is currently sparse on different repositories (inventories, websites, scientific journals, technical reports, etc.), including aggregated data and metadata from participating databases. Aggregated data provided by the finder, if appropriately checked, can be used by researchers who are trying to estimate the prevalence of a RD, to organize a clinical trial on a RD, or to estimate the volume of patients seen by different clinical centers. The finder is also a portal to other RD-Connect tools, providing a link to the RD-Connect Sample Catalogue, a large inventory of RD biological samples available in participating biobanks for RD research. There are several kinds of users and potential uses for the RD-Connect Registry & Biobank Finder, including researchers collaborating with academia and the industry, dealing with the questions of basic, translational, and/or clinical research. As of November 2017, the finder is populated with aggregated data for 222 registries and 21 biobanks.