Is it time to change the reference genome?

Ballouz, Sara, Dobin, Alexander, Gillis, Jesse (January 2019) Is it time to change the reference genome? bioRxiv. ISSN 2692-8205 (Unpublished)

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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.

Item Type:	Paper
Subjects:	organism description > animal > mammal > primates > hominids > human Investigative techniques and equipment > assays > whole genome sequencing
CSHL Authors:	Ballouz, Sara Dobin, Alexander Gillis, Jesse
Communities:	CSHL labs > Gillis Lab CSHL labs > Dobin Lab CSHL Post Doctoral Fellows
SWORD Depositor:	CSHL Elements
Depositing User:	CSHL Elements
Date:	29 January 2019
Date Deposited:	20 May 2021 20:05
Last Modified:	29 Oct 2025 19:05
URI:	https://repository.cshl.edu/id/eprint/40105

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