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; M 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, M Lisandra Zepeda Mendoza, Richard Durbin, Paul Flicek

Microbes, Infections and Microbiomes

Research output: Contribution to journal › Article › peer-review

82 Citations (Scopus)

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
Pages (from-to)	13
Journal	Genome Biology
Volume	16
DOIs	https://doi.org/10.1186/s13059-015-0587-3
Publication status	Published - 24 Jan 2015

Keywords

Computational Biology/methods
Databases, Genetic
Genome, Human
Genomics/methods
Humans
Software

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10.1186/s13059-015-0587-3

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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. ",

keywords = "Computational Biology/methods, Databases, Genetic, Genome, Human, Genomics/methods, Humans, Software",

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 Mendoza, {M Lisandra Zepeda} and Richard Durbin and Paul Flicek",

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T1 - Extending reference assembly models

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 - Mendoza, M Lisandra Zepeda

AU - Durbin, Richard

AU - Flicek, Paul

PY - 2015/1/24

Y1 - 2015/1/24

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.

KW - Computational Biology/methods

KW - Databases, Genetic

KW - Genome, Human

KW - Genomics/methods

KW - Humans

KW - Software

U2 - 10.1186/s13059-015-0587-3

DO - 10.1186/s13059-015-0587-3

M3 - Article

C2 - 25651527

SN - 1474-7596

VL - 16

SP - 13

JO - Genome Biology

JF - Genome Biology

ER -

Extending reference assembly models

Abstract

Keywords

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