Content area

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.

Details

Title
Extending reference assembly models
Author
Church, Deanna M; Schneider, Valerie A; Karyn Meltz Steinberg; Schatz, Michael C; Quinlan, Aaron R; Chen-Shan, Chin; Kitts, Paul A; Aken, Bronwen; Marth, Gabor T; Hoffman, Michael M; Herrero, Javier; M Lisandra Zepeda Mendoza; Durbin, Richard; Flicek, Paul
Publication year
2015
Publication date
2015
Publisher
Springer Nature B.V.
ISSN
14747596
e-ISSN
1474760X
Source type
Scholarly Journal
Language of publication
English
ProQuest document ID
2207520730
Copyright
Copyright BioMed Central 2015