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Clusters of genetic diseases in Brazil.

Gabriela Costa CardosoMarcelo Zagonel de OliveiraVanessa Rodrigues Paixão-CôrtesEduardo Enrique CastillaLavínia Schuler Faccini
Published in: Journal of community genetics (2018)
The aim of this paper is to present a database of isolated communities (CENISO) with high prevalence of genetic disorders or congenital anomalies in Brazil. We used two strategies to identify such communities: (1) a systematic literature review and (2) a "rumor strategy" based on anecdotal accounts. All rumors and reports were validated in a stepwise process. The bibliographical search identified 34 rumors and 245 rumors through the rumor strategy, and 144 were confirmed. A database like this one presented here represents an important tool for the planning of health priorities for rare diseases in low- and middle-income countries with large populations.
Keyphrases
  • adverse drug
  • genome wide
  • healthcare
  • public health
  • copy number
  • mental health
  • health information
  • emergency department
  • climate change