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Title : Rare Disease Day 2018
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Rare Disease Day 2018

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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.

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• 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

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