Is it time to change the reference genome?

Ballouz, S., Dobin, A., Gillis, J. A. (August 2019) Is it time to change the reference genome? Genome Biol, 20 (1). ISSN 1474-7596

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URL: https://www.ncbi.nlm.nih.gov/pubmed/31399121
DOI: 10.1186/s13059-019-1774-4

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 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.

Item Type: Paper
Subjects: bioinformatics > genomics and proteomics > genetics & nucleic acid processing > genomes
bioinformatics > genomics and proteomics > personal genomes
bioinformatics > genomics and proteomics > genetics & nucleic acid processing > genomes > personal genomes
CSHL Authors:
Communities: CSHL labs > Gillis Lab
Depositing User: Matthew Dunn
Date: 9 August 2019
Date Deposited: 20 Aug 2019 19:47
Last Modified: 08 Nov 2019 17:01
PMCID: PMC6688217
Related URLs:
URI: https://repository.cshl.edu/id/eprint/38303

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