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Genome Biol. 2015 Jan 24;16:13. doi: 10.1186/s13059-015-0587-3.

Extending reference assembly models.

Abstract

The human genome reference assembly is crucial for aligning and analyzing sequence data, and for genome annotation, among other roles. However, the models and analysis assumptions that underlie the current assembly need revising to fully represent human sequence diversity. Improved analysis tools and updated data reporting formats are also required.

PMID:
25651527
PMCID:
PMC4305238
DOI:
10.1186/s13059-015-0587-3
[Indexed for MEDLINE]
Free PMC Article

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