Extending reference assembly models.
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ABSTRACT:
SUBMITTER: Church DM
PROVIDER: S-EPMC4305238 | biostudies-literature | 2015 Jan
REPOSITORIES: biostudies-literature
Publications
Extending reference assembly models.
Church Deanna M DM Schneider Valerie A VA Steinberg Karyn Meltz KM Schatz Michael C MC Quinlan Aaron R AR Chin Chen-Shan CS Kitts Paul A PA Aken Bronwen B Marth Gabor T GT Hoffman Michael M MM Herrero Javier J Mendoza M Lisandra Zepeda ML Durbin Richard R Flicek Paul P
Genome biology 20150124
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. ...[more]
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