- eHealth Services for the European Reference Network on Rare Anaemias (eENERCA).
Antoniou Zinonas et al. Stud Health Technol Inform 2015 213153-6
- GeneYenta: A Phenotype-Based Rare Disease Case Matching Tool Based on Online Dating Algorithms For the Acceleration of Exome Interpretation.
Gottlieb Michael M, et al. Hum. Mutat. 2015 2 23.
- National Registries of Rare Diseases in Europe: An Overview of the Current Situation and Experiences.
Taruscio D, et al. Public health genomics 2014 9
- Phen-Gen: combining phenotype and genotype to analyze rare disorders.
Javed A, et al. Nature methods 2014 9 (9) 9
- Assessing disease risk in genome-wide association studies using family history.
Ghosh A, et al. Epidemiology (Cambridge, Mass.) 2012 7 (4) 4
sábado, 24 de febrero de 2018
Rare Disease Day 2018
From Genomics & Health Impact Scan Database
This database includes published scientific literature on evidence-based translation of genomic discoveries into improved health care and disease prevention that have a potential impact on population health.