Extending reference assembly models

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 an...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4305238/
https://www.ncbi.nlm.nih.gov/pubmed/25651527
http://dx.doi.org/10.1186/s13059-015-0587-3
Descripción
Sumario: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.

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