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Is it time to change the reference genome?

Sara BallouzAlexander DobinJonathan M Werner
Published in: Genome biology (2019)
The use of the human reference genome has shaped methods and data across modern genomics. This has offered many benefits while creating a few constraints. In the following opinion, we outline the history, properties, and pitfalls of the current human reference genome. In a few illustrative analyses, we focus on its use for variant-calling, highlighting its nearness to a 'type specimen'. We suggest that switching to a consensus reference would offer important advantages over the continued use of the current reference with few disadvantages.
Keyphrases
  • endothelial cells
  • genome wide
  • dna methylation
  • pluripotent stem cells
  • gene expression
  • big data
  • clinical practice
  • deep learning