Article

Is it time to change the reference genome?

2019-01-29

Abstract excerpt

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...

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Literature Corpus work: b9730c73-f07b-5e2a-8071-4f5bb50a5a37
DOI: 10.1101/533166

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