Implementation and relevance of FAIR data principles in biopharmaceutical R&amp;D

Wise, John; Barron, Alexandra Grebe de; Splendiani, Andrea; Balali-Mood, Beeta; Vasant, Drashtti; Little, Eric; Mellino, Gaspare; Harrow, Ian; Smith, Ian C. P.; Taubert, Jan; Bochove, Kees van; Romacker, Martin; Walgemoed, Peter; Jiménez, Rafael C.; Winnenburg, Rainer; Plasterer, Tom; Gupta, Vibhor; Hedley, Victoria

doi:10.1016/j.drudis.2019.01.008

Cited by 115 publications

(112 citation statements)

References 16 publications

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“…In concordance with certain provisions of the 21st Century Cures Act, foundational, structural, semantic, and organizational interoperability processes must be implemented and widely adopted, thereby optimizing the utility of data, in order to accelerate research and development [17,18]. This is particularly salient for rare diseases, where harmonizing data from different sources through the use of common data elements, core outcome sets, and standardized data structures can support the exchange and comparability of data across datasets and the utility and scalability of patient registries [19][20][21][22]. Finally, the FDA has prioritized, through the 21st Century Cures Act and the institution of the Accelerated Approval Program, the expedited approval of drugs that fill a critical unmet medical need for treating serious conditions based on a surrogate endpoint thought to predict clinical benefit, rather than on an initial measure of clinical benefit itself [18,23].…”

Section: Introductionmentioning

confidence: 99%

Establishing Patient Registries for Rare Diseases: Rationale and Challenges

et al. 2020

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Globally, an estimated 350 million people are affected by a rare disease diagnosis. Knowledge limitations persist for the majority of rare conditions due to systemic and structural challenges in healthcare and research. Disease-specific patient populations are often small and geographically dispersed; funding support for research is restricted; and diagnostic delays are common due to disease complexities, limited medical training for practitioners, and evolving foundational knowledge related to disease characterization. Patient registries can be effective, convenient, and cost-efficient tools to support documentation of the natural history of a disease, centering patients as research partners in the process while uniting rare communities around a common initiative. Current global trends towards innovative and patient-centered healthcare are enabling patient registries to increasingly emerge as valuable tools for use within rare disease research and drug development. This article describes the value of and rationale for establishing rare disease patient registries and the considerations and challenges that stakeholders, such as researchers, industry, health care providers, and patient community organizations, may encounter.

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Section: Introductionmentioning

confidence: 99%

Establishing Patient Registries for Rare Diseases: Rationale and Challenges

et al. 2020

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“…more FAIR. 10,12 While detailed annotation of fine-grained details such as data formats are costly, the effort is warranted where it supports valuable scientific applications such as tool interoperability and workflow composition. Detailed tool annotations including input/output data and format will open the door for identifying novel workflows of compatible tools and for implementing alternative workflow components to benchmark their performance.…”

Section: Resultsmentioning

confidence: 99%

One Thousand and One Software for Proteomics: Tales of the Toolmakers of Science

Tsiamis

Ienasescu²,

Gabrielaitis³

et al. 2019

J. Proteome Res.

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Proteomics is a very active field driven by frequent introduction of new technological approaches, leading to high demand for new software tools and the concurrent development of many methods for data analysis, processing and storage. The rapidly changing landscape of proteomics software makes finding a tool fit for a particular purpose a significant challenge. The comparison of software and the selection of tools capable to perform a certain operation on a given type of data relies on their detailed annotation using well-defined descriptors. However, finding accurate information including tool input/output capabilities can be challenging and often heavily depends on manual curation efforts. This is further hampered by a rather low half-life of most of the tools, thus demanding the maintenance of a resource with updated information about the tools. We present here our approach to curate a collection of 189 software tools with detailed information about their functional capabilities. We furthermore describe our efforts to reach out to the proteomics community for their engagement, which further increased the catalogue to >750 tools being about 70% of the estimated number of 1,097 tools existing for proteomics data analysis. Descriptions of all annotated tools are available through https://proteomics.bio.tools

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“…On the other hand, network control seems useful to focus on TRL [28] to strengthen collaboration and innovation with the private sectors [29,30]. The ability to control the information flow, however, may bring also implications for the institutional efforts to boost innovation in open science based, e.g., on FAIR (findability, accessibility, interoperability, and reuse of digital assets) principles [41]. Consequently, current optimization problems seem associated with minimal but sufficient organizational changes.…”

Section: Discussion and Related Workmentioning

confidence: 99%