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Extending reference assembly models

Author:
Church, Deanna M, Schneider, Valerie A, Steinberg, Karyn Meltz, Schatz, Michael C, Quinlan, Aaron R, Chin, Chen-Shan, Kitts, Paul A, Aken, Bronwen, Marth, Gabor T, Hoffman, Michael M, Herrero, Javier, Mendoza, M Lisandra Zepeda, Durbin, Richard, Flicek, Paul
Source:
GenomeBiology.com 2015 v.16 no.1 pp. 13
ISSN:
1465-6906
Subject:
genome, humans, models, sequence diversity
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.
Agid:
1201985