1Organised by Istituto Superiore di Sanità

Rome (Italy), September 21-22, 2017

Introduction of the BYOD, dataset and group division

Claudio CartaNational Centre for Rare Diseases Istituto Superiore di Sanità Rome, Italy

Bring Your Own Data To Link Rare Disease Registries

Bring Your Own Data To Link Rare Disease Registries

2Organised by Istituto Superiore di Sanità

Rome (Italy), September 21-22, 2017

1st Edition 20142nd Edition 2015

3rd Edition 2016 Welcome !

Bring Your Own Data, BYOD : To Link Rare Disease Registries

4th Edition

3Organised by Istituto Superiore di Sanità

Rome (Italy), September 21-22, 2017

total: 221

BYOD: 139

total: 78

BYOD: 58

total: 71BYOD: 46

total: 61

BYOD: 34

4th BYOD 2017

total: 148BYOD: 97

total: 64

BYOD: 44

3rd BYOD 2016

2nd BYOD 2015

Bring Your Own Data To Link Rare Disease Registries

Total n° of subscriptions

Bring Your Own Data

4Organised by Istituto Superiore di Sanità

Rome (Italy), September 21-22, 2017

The "Bring Your Own Data, BYOD, To Link RareDisease Registries" aims to promote theestablishment of Findable, Accessible, Interoperable,Reusable (FAIR) Rare Disease (RD) registries

BYOD is a hands-on experience, where the attendeeswork with FAIR data experts to make their sampledata FAIR and linked to other data that has beenmade FAIR before.

General Roadmap:

General Roadmap: You Are Here

5Organised by Istituto Superiore di Sanità

Rome (Italy), September 21-22, 2017

(i) Attendees Subscripition(ii) Technical organization(iii) Attendees selction(iv) Analysis of the items of the datasets provided by participants(v) Technical video conference among trainers(vi) Tentative output data(vii) Data hosting software(viii) Shared documents among trainers and attendees(ix) Video conference Trainers and Attendees

Thanks !

Selected Fake Sample and SCRAMBLED Data

6Organised by Istituto Superiore di Sanità

Rome (Italy), September 21-22, 2017

Could you please send usfew items of the datasetand FAKE SAMPLE DATA

We received several CSV files….

However we select four datasets and….

> Scrambled dataset

> Cut some columns

This Sample Fake CSV/Excel File is FAIR ?

Bring Your Own Data To Link Rare Disease Registries, ISS_CNMR Rome (Italy), September 21-22, 2017

….anyway as in movies

This Sample Fake CSV/Excel File is FAIR ?

Bring Your Own Data To Link Rare Disease Registries, ISS_CNMR Rome (Italy), September 21-22, 2017

Define semantic

model

Transform data records

Define metadata

Deploy FAIR data resource

Query interface or

user app

FAIRification process

9Organised by Istituto Superiore di Sanità

Rome (Italy), September 21-22, 2017

This Sample Fake CSV/Excel File is FAIR ?

Bring Your Own Data To Link Rare Disease Registries, ISS_CNMR Rome (Italy), September 21-22, 2017

Knowledge: associations implied by data

Bring Your Own Data To Link Rare Disease Registries, ISS_CNMR Rome (Italy), September 21-22, 2017

Patient X “CBBis6”Has name

Patient X “rs113624356”Has sequence variant

Patient X “HP:0012591”Has phenotype

http://semanticscience.org/resource/SIO_000498

foaf:name “CBBis6"

http://purl.obolibrary.org/obo/SO_0001060

http://semanticscience.org/resource/SIO_000498

https://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=113624356

http://purl.obolibrary.org/obo/HP_0012591

http://purl.obolibrary.org/obo/RO_0002200

http://semanticscience.org/resource/SIO_000498

Knowledge: associations implied by data

Bring Your Own Data To Link Rare Disease Registries, ISS_CNMR Rome (Italy), September 21-22, 2017

Bring Your Own Data

13Organised by Istituto Superiore di Sanità

Rome (Italy), September 21-22, 2017

Thanks to

BYOD: Updated Programe

14Organised by Istituto Superiore di Sanità

Rome (Italy), September 21-22, 2017

Day 1 Thursday, Sept 21, 2017

08:30 Participants registration for BYOD09:00 Welcome address (D. Taruscio)09:15 Round of introduction09:30 Introduction of the BYOD, dataset and group division (C. Carta)09:45 Introduction to conceptual modeling and next steps (M. Roos)10:00 Break-out: Participants analyse the dataset, create a driving user question and draw a concept

model on paper (IT-Trainers)11:00 Coffee Break11:30 Plenary session: Participants present concept models (M. Roos and IT-Trainers)12:20 Document ontologies and clinical ontologies (R. Cornet)12:40 ORDO and HPO ontologies (M. Hanauer)13:00 Lunch14:00 Break-out: Participants do ontological modelling (IT-Trainers)14:45 Plenary session: Participants present ontological models (M. Roos and IT-Trainers)15:05 Introduction to the FAIRifier tool and metadata editor (M. Roos, R. Kaliyaperumal)15:30 Break-out: Participants follow the FAIRifier tutorial (IT-Trainers)17:00 Wrap up First Impressions / progress report17:30 End of the day

BYOD: Updated Programe

15Organised by Istituto Superiore di Sanità

Rome (Italy), September 21-22, 2017

Day 2 Friday Sept 22, 2017

9:00 Break-out: Hands on continued (IT-Trainers)10:00 Plenary session: Demonstration and Recap of the use of FAIRified data and FDP by LD experts

(R. Kaliyaperumal)10:45 Coffee 11:00 Break-out: FAIRification sketch and new questions (possibly apply) on own data (IT-Trainers)11:45 Plenary session: present FAIRification sketch, implications for FAIR project planning (M. Roos)13:00 Lunch 14:00 FAIR project planning continued and future challenges and examples 16:00 Remarks and Conclusion (M. Roos, D. Taruscio)16:30 End of the BYOD

Acknowledgments:

Bring Your Own Data To Link Rare Disease Registries , ISS-CNMR, Rome (Italy), September 21-22, 2017

Bring Your Own Data To Link Rare Disease Registries

Marco Roos, Annika Jacobsen, Rajaram Kaliyaperumal, David van Enckevort, Marc Hanauer, Andra Waagmeester, Mark Wilkinson, Ronald Cornet, Mark Thompson, Nuno Miguel da Silva Nunes, Domenica Taruscio, Mascha Jansen, Peter-Bram ‘t Hoen, Luiz Bonino, Rachel Thompson, Allegra Via, Luana Licata, Erik Schultes ,Barend Mons, rare disease patients and representatives, BYOD’s attendees

Thanks for your attention