Opportunities and challenges for machine learning in rare diseases
S Decherchi, E Pedrini, M Mordenti, A Cavalli… - Frontiers in …, 2021 - frontiersin.org
Rare diseases (RDs) are complicated health conditions that are difficult to be managed at
several levels. The scarcity of available data chiefly determines an intricate scenario even …
several levels. The scarcity of available data chiefly determines an intricate scenario even …
FAIR Genomes metadata schema promoting Next Generation Sequencing data reuse in Dutch healthcare and research
The genomes of thousands of individuals are profiled within Dutch healthcare and research
each year. However, this valuable genomic data, associated clinical data and consent are …
each year. However, this valuable genomic data, associated clinical data and consent are …
How patient organizations can drive FAIR data efforts to facilitate research and health care: A report of the virtual second international meeting on Duchenne data …
N van Lin, G Paliouras, E Vroom… - Journal of …, 2021 - journals.sagepub.com
Background: For patients with rare diseases such as Duchenne and Becker muscular
dystrophy (DMD/BMD), access to their health data is key to being able to advocate for …
dystrophy (DMD/BMD), access to their health data is key to being able to advocate for …
“Who Is the FAIRest of Them All?” Authors, Entities, and Journals Regarding FAIR Data Principles
L Corujo - Publications, 2022 - mdpi.com
The perceived need to improve the infrastructure supporting the re-use of scholarly data
since the second decade of the 21st century led to the design of a concise number of …
since the second decade of the 21st century led to the design of a concise number of …
Surveyed common data access policies preferences amongst European Reference Networks
A Cámara, N Benis, CH Bernabé… - … on Semantic Web …, 2023 - research.rug.nl
Background: Data sharing amongst existing Rare Disease (RD) registries, even though
being a process that presents multiple barriers, would enrich and ease research, as well as …
being a process that presents multiple barriers, would enrich and ease research, as well as …
Making Palga Protocol Data Interoperable
S de Ridder, P Snaebjornsson, QJM Voorham… - Available at SSRN … - papers.ssrn.com
Background/Aim: Palga, the Dutch Pathology Registry, stores millions of pathology excerpts.
A large portion of these data is collected via real time standardised structured reporting by …
A large portion of these data is collected via real time standardised structured reporting by …
[PDF][PDF] Who Is the FAIRest of Them All?
L Corujo - Authors, Entities, and Journals Regarding FAIR Data … - microblogging.infodocs.eu
The perceived need to improve the infrastructure supporting the re-use of scholarly data
since the second decade of the 21st century led to the design of a concise number of …
since the second decade of the 21st century led to the design of a concise number of …
[PDF][PDF] an, Paliouras, G
N Lin - Vroom, E., Hoen, P.. C.'t, & Roos, M, 2021 - scholarlypublications …
Background: For patients with rare diseases such as Duchenne and Becker muscular
dystrophy (DMD/BMD), access to their health data is key to being able to advocate for …
dystrophy (DMD/BMD), access to their health data is key to being able to advocate for …