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GenomicsGenome biology
Peer-reviewed journal article

Is it time to change the reference genome?

Sara BallouziD, Alexander DobiniD, Jesse A GillisiD

Abstract

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 piece, 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 offers important advantages over the current reference with few disadvantages.

02 /Specification & Classification

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