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Thorough analysis of unorthodox ABO deletions called by the 1000 Genomes project.

Mattias MöllerÅsa HellbergMartin L Olsson
Published in: Vox sanguinis (2017)
A previously uncharacterized ABO deletion among Africans was comprehensively mapped and a genotyping strategy devised. The false prediction of another deletion emphasizes the need for cautious interpretation of NGS data and calls for strict validation routines.
Keyphrases
  • quality improvement
  • electronic health record
  • high throughput
  • genome wide
  • big data
  • dna methylation
  • machine learning