The following publications are the result of the successful cooperation of the Solve-RD partners and represent the breadth of the scientific expertise of the consortium.
Results
- Welcome
- The Project
- The Group
- Consortium
- EKUT – 1a
- EKUT – 1b
- RUMC – 2
- ULEIC – 3
- UNEW – 4
- MUH – 5
- CHU Dijon – 6a
- UB – 6b
- CNAG-CRG – 7
- EURORDIS – 8
- INSERM-Orphanet – 9a
- INSERM-ICM – 9b
- INSERM-CRM – 9c
- CUP – 10
- EMBL-EBI – 11
- JAX – 12
- KCL – 13
- UCL-IoN – 14a
- UCL-ICH – 14b
- UA – 15
- Uni Naples – 16
- UNIFE – 17
- UHB – 18
- IPATIMUP – 19
- UMCG – 20
- Charité -21
- SHU – 22
- Project Coordinator
- Project Office
- Steering Committee
- Scientific Advisory Board
- Independent Ethics Advisory Board
- Associated Networks/Partners
- Collaborations
- Consortium
- Platforms & Tools
- Results
- Meetings
- News
2018
Responsible sharing of biomedical data and biospecimens via the “Automatable Discovery and Access Matrix” (ADA-M).
Woolley JP, Kirby E, Leslie J, Jeanson F, Cabili MN, Rushton G, Hazard JG, Ladas V, Veal CD, Gibson SJ, Tassé AM, Dyke SOM, Gaff C, Thorogood A, Knoppers BM, Wilbanks J, Brookes AJ.
npj Genomic Medicine (2018) 3:17. doi:10.1038/s41525-018-0057-4.
Improved ontology-based similarity calculations using a study-wise annotation model.
Köhler S.
Database (Oxford). 2018 Jan 1;2018. doi: 10.1093/database/bay026. PMID: 29688377.
International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.
Boycott KM, Rath A, Chong JX, Hartley T, Alkuraya FS, Baynam G, Brookes AJ, Brudno M, Carracedo A, den Dunnen JT, Dyke SOM, Estivill X, Goldblatt J, Gonthier C, Groft SC, Gut I, Hamosh A, Hieter P, Höhn S, Hurles ME, Kaufmann P, Knoppers BM, Krischer JP, Macek M Jr, Matthijs G, Olry A, Parker S, Paschall J, Philippakis AA, Rehm HL, Robinson PN, Sham PC, Stefanov R, Taruscio D, Unni D, Vanstone MR, Zhang F, Brunner H, Bamshad MJ, Lochmüller H.
Am J Hum Genet. 2017 May 4;100(5):695-705. doi: 10.1016/j.ajhg.2017.04.003. PMID: 28475856.
