Extending reference assembly models

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; Marie Lisandra Zepeda Mendoza; Richard Durbin; Paul Flicek

doi:10.1186/s13059-015-0587-3

Extending reference assembly models

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, Marie Lisandra Zepeda Mendoza, Richard Durbin, Paul Flicek

^*Corresponding author for this work

82 Citations (Scopus)

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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.

Original language	English
Article number	13
Journal	Genome Biology
Volume	16
Issue number	1
Number of pages	5
ISSN	1474-7596
DOIs	https://doi.org/10.1186/s13059-015-0587-3
Publication status	Published - 2015

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title = "Extending reference assembly models",

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.",

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

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AU - Church, Deanna M.

AU - Schneider, Valerie A.

AU - Steinberg, Karyn Meltz

AU - Schatz, Michael C.

AU - Quinlan, Aaron R.

AU - Chin, Chen-Shan

AU - Kitts, Paul A.

AU - Aken, Bronwen

AU - Marth, Gabor T.

AU - Hoffman, Michael M.

AU - Herrero, Javier

AU - Zepeda Mendoza, Marie Lisandra

AU - Durbin, Richard

AU - Flicek, Paul

PY - 2015

Y1 - 2015

N2 - 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.

AB - 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.

U2 - 10.1186/s13059-015-0587-3

DO - 10.1186/s13059-015-0587-3

M3 - Comment/debate

AN - SCOPUS:84939129835

SN - 1474-7596

VL - 16

JO - Genome Biology (Online Edition)

JF - Genome Biology (Online Edition)

IS - 1

M1 - 13

ER -

Extending reference assembly models

Abstract

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