Published in
BioMed Central, Genome Biology, 1(16), 2015
DOI: 10.1186/s13059-015-0587-3
Links
- ORCID
- ORCID
- BioMed Central | PDF
- [genomebiology.com] | PDF
- [www.researchgate.net] | PDF
- [www.ncbi.nlm.nih.gov] | PDF
- [europepmc.org] | PDF
- [repository.cshl.edu] | PDF
- [digitalcommons.wustl.edu] | PDF
- [discovery.ucl.ac.uk] | PDF
- [curis.ku.dk] | PDF
- [tspace.library.utoronto.ca] | PDF
Tools
Extending reference assembly models
Journal article published in 2015 by
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
,
Paul A. Kitts,
Bronwen Aken,
Gabor T. Marth,
Michael M. Hoffman,
Javier Herrero,
M. Lisandra Zepeda Mendoza,
Richard Durbin ,
Paul Flicek
This paper is made freely available by the publisher.
Full text: Download
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Abstract
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.