Is it time to change the reference genome?
2019; BioMed Central; Volume: 20; Issue: 1 Linguagem: Inglês
10.1186/s13059-019-1774-4
ISSN1474-760X
AutoresSara Ballouz, Alexander Dobin, Jesse Gillis,
Tópico(s)Genomics and Rare Diseases
ResumoThe 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.
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