PT  - JOURNAL ARTICLE
AU  - Sara Ballouz
AU  - Alexander Dobin
AU  - Jesse Gillis
TI  - Is it time to change the reference genome?
AID  - 10.1101/533166
DP  - 2019 Jan 01
TA  - bioRxiv
PG  - 533166
4099  - http://biorxiv.org/content/early/2019/01/29/533166.short
4100  - http://biorxiv.org/content/early/2019/01/29/533166.full
AB  - 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.List of abbreviationsAFallele frequency