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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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 bioinformatics > genomics and proteomics > genetics & nucleic acid processing bioinformatics > genomics and proteomics organism description > animal bioinformatics > genomics and proteomics > genetics & nucleic acid processing > genomes organism description > animal > mammal > primates > hominids organism description > animal > mammal > primates > hominids > human organism description > animal > mammal bioinformatics > genomics and proteomics > personal genomes bioinformatics > genomics and proteomics > genetics & nucleic acid processing > genomes > personal genomes organism description > animal > mammal > primates |
| CSHL Authors: | |
| Communities: | CSHL labs > Gillis Lab CSHL labs > Dobin Lab |
| Depositing User: | Matthew Dunn |
| Date: | 9 August 2019 |
| Date Deposited: | 20 Aug 2019 19:47 |
| Last Modified: | 01 Feb 2024 20:26 |
| PMCID: | PMC6688217 |
| Related URLs: | |
| URI: | https://repository.cshl.edu/id/eprint/38303 |
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