Extending reference assembly models View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2015-12

AUTHORS

Deanna M Church, Valerie A Schneider, Karyn Meltz Steinberg, Michael C Schatz, Aaron R Quinlan, Chen-Shan Chin, Paul A Kitts, Bronwen Aken, Gabor T Marth, Michael M Hoffman, Javier Herrero, M Lisandra Zepeda Mendoza, Richard Durbin, Paul Flicek

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.

PAGES

13

Identifiers

URI

http://scigraph.springernature.com/pub.10.1186/s13059-015-0587-3

DOI

http://dx.doi.org/10.1186/s13059-015-0587-3

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1053251839

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/25651527


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