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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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:
Comment
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
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author 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
author_facet 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
author_sort Church, Deanna M
collection PubMed
description 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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spelling pubmed-43052382015-01-25 Extending reference assembly models 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 Genome Biol Comment 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. BioMed Central 2015-01-24 2015 /pmc/articles/PMC4305238/ /pubmed/25651527 http://dx.doi.org/10.1186/s13059-015-0587-3 Text en © The article is a work of the United States Government; 2015 Title 17 U.S.C 105 provides that copyright protection is not available for any work of the United States government in the United States; licensee BioMed Central Ltd.
spellingShingle Comment
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
Extending reference assembly models
title Extending reference assembly models
title_full Extending reference assembly models
title_fullStr Extending reference assembly models
title_full_unstemmed Extending reference assembly models
title_short Extending reference assembly models
title_sort extending reference assembly models
topic Comment
url 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
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